Feature

Most of us have two voice changes in our lifetime: First during puberty, as the vocal cords thicken and the voice box migrates down the throat. Then a second time as aging causes structural changes that may weaken the voice.

But for some of us, there’s another voice shift, when a disease begins or when our mental health declines.

This is why more doctors are looking into voice as a biomarker – something that tells you that a disease is present.

Vital signs like blood pressure or heart rate “can give a general idea of how sick we are. But they’re not specific to certain diseases,” says Yael Bensoussan, MD, director of the University of South Florida, Tampa’s Health Voice Center and the coprincipal investigator for the National Institutes of Health’s Voice as a Biomarker of Health project.

“We’re learning that there are patterns” in voice changes that can indicate a range of conditions, including diseases of the nervous system and mental illnesses, she says.

Speaking is complicated, involving everything from the lungs and voice box to the mouth and brain. “A breakdown in any of those parts can affect the voice,” says Maria Powell, PhD, an assistant professor of otolaryngology (the study of diseases of the ear and throat) at Vanderbilt University, Nashville, Tenn., who is working on the NIH project.

You or those around you may not notice the changes. But researchers say voice analysis as a standard part of patient care – akin to blood pressure checks or cholesterol tests – could help identify those who need medical attention earlier.

Often, all it takes is a smartphone – “something that’s cheap, off-the-shelf, and that everyone can use,” says Ariana Anderson, PhD, director of the University of California, Los Angeles, Laboratory of Computational Neuropsychology.

“You can provide voice data in your pajamas, on your couch,” says Frank Rudzicz, PhD, a computer scientist for the NIH project. “It doesn’t require very complicated or expensive equipment, and it doesn’t require a lot of expertise to obtain.” Plus, multiple samples can be collected over time, giving a more accurate picture of health than a single snapshot from, say, a cognitive test.

Over the next 4 years, the Voice as a Biomarker team will receive nearly $18 million to gather a massive amount of voice data. The goal is 20,000-30,000 samples, along with health data about each person being studied. The result will be a sprawling database scientists can use to develop algorithms linking health conditions to the way we speak.

For the first 2 years, new data will be collected exclusively via universities and high-volume clinics to control quality and accuracy. Eventually, people will be invited to submit their own voice recordings, creating a crowdsourced dataset. “Google, Alexa, Amazon – they have access to tons of voice data,” says Dr. Bensoussan. “But it’s not usable in a clinical way, because they don’t have the health information.”

Dr. Bensoussan and her colleagues hope to fill that void with advance voice screening apps, which could prove especially valuable in remote communities that lack access to specialists or as a tool for telemedicine. Down the line, wearable devices with voice analysis could alert people with chronic conditions when they need to see a doctor.

“The watch says, ‘I’ve analyzed your breathing and coughing, and today, you’re really not doing well. You should go to the hospital,’ ” says Dr. Bensoussan, envisioning a wearable for patients with COPD. “It could tell people early that things are declining.”

Artificial intelligence may be better than a brain at pinpointing the right disease. For example, slurred speech could indicate Parkinson’s, a stroke, or ALS, among other things.

“We can hold approximately seven pieces of information in our head at one time,” says Dr. Rudzicz. “It’s really hard for us to get a holistic picture using dozens or hundreds of variables at once.” But a computer can consider a whole range of vocal markers at the same time, piecing them together for a more accurate assessment.

“The goal is not to outperform a ... clinician,” says Dr. Bensoussan. Yet the potential is unmistakably there: In a recent study of patients with cancer of the larynx, an automated voice analysis tool more accurately flagged the disease than laryngologists did. 

“Algorithms have a larger training base,” says Dr. Anderson, who developed an app called ChatterBaby that analyzes infant cries. “We have a million samples at our disposal to train our algorithms. I don’t know if I’ve heard a million different babies crying in my life.”

So which health conditions show the most promise for voice analysis? The Voice as a Biomarker project will focus on five categories.
 

Voice disorders (cancers of the larynx, vocal fold paralysis, benign lesions on the larynx)

Obviously, vocal changes are a hallmark of these conditions, which cause things like breathiness or “roughness,” a type of vocal irregularity. Hoarseness that lasts at least 2 weeks is often one of the earliest signs of laryngeal cancer. Yet it can take months – one study found 16 weeks was the average – for patients to see a doctor after noticing the changes. Even then, laryngologists still misdiagnosed some cases of cancer when relying on vocal cues alone.

Now imagine a different scenario: The patient speaks into a smartphone app. An algorithm compares the vocal sample with the voices of laryngeal cancer patients. The app spits out the estimated odds of laryngeal cancer, helping providers decide whether to offer the patient specialist care.

Or consider spasmodic dysphonia, a neurological voice disorder that triggers spasms in the muscles of the voice box, causing a strained or breathy voice. Doctors who lack experience with vocal disorders may miss the condition. This is why diagnosis takes an average of nearly 4.5 years, according to a study in the Journal of Voice, and may include everything from allergy testing to psychiatric evaluation, says Dr. Powell. Artificial intelligence technology trained to recognize the disorder could help eliminate such unnecessary testing.
 

Neurological and neurodegenerative disorders (Alzheimer’s, Parkinson’s, stroke, ALS) 

For Alzheimer’s and Parkinson’s, “one of the first changes that’s notable is voice,” usually appearing before a formal diagnosis, says Anais Rameau, MD, an assistant professor of laryngology at Weill Cornell Medicine, New York, and another member of the NIH project. Parkinson’s may soften the voice or make it sound monotone, while Alzheimer’s disease may change the content of speech, leading to an uptick in “umms” and a preference for pronouns over nouns.

With Parkinson’s, vocal changes can occur decades before movement is affected. If doctors could detect the disease at this stage, before tremor emerged, they might be able to flag patients for early intervention, says Max Little, PhD, project director for the Parkinson’s Voice Initiative. “That is the ‘holy grail’ for finding an eventual cure.”

Again, the smartphone shows potential. In a 2022 Australian study, an AI-powered app was able to identify people with Parkinson’s based on brief voice recordings, although the sample size was small. On a larger scale, the Parkinson’s Voice Initiative collected some 17,000 samples from people across the world. “The aim was to remotely detect those with the condition using a telephone call,” says Dr. Little. It did so with about 65% accuracy. “While this is not accurate enough for clinical use, it shows the potential of the idea,” he says.

Dr. Rudzicz worked on the team behind Winterlight, an iPad app that analyzes 550 features of speech to detect dementia and Alzheimer’s (as well as mental illness). “We deployed it in long-term care facilities,” he says, identifying patients who need further review of their mental skills. Stroke is another area of interest, because slurred speech is a highly subjective measure, says Dr. Anderson. AI technology could provide a more objective evaluation.
 

Mood and psychiatric disorders (depression, schizophrenia, bipolar disorders)

No established biomarkers exist for diagnosing depression. Yet if you’re feeling down, there’s a good chance your friends can tell – even over the phone.

“We carry a lot of our mood in our voice,” says Dr. Powell. Bipolar disorder can also alter voice, making it louder and faster during manic periods, then slower and quieter during depressive bouts. The catatonic stage of schizophrenia often comes with “a very monotone, robotic voice,” says Dr. Anderson. “These are all something an algorithm can measure.”

Apps are already being used – often in research settings – to monitor voices during phone calls, analyzing rate, rhythm, volume, and pitch, to predict mood changes. For example, the PRIORI project at the University of Michigan is working on a smartphone app to identify mood changes in people with bipolar disorder, especially shifts that could increase suicide risk.

The content of speech may also offer clues. In a University of California, Los Angeles, study published in the journal PLoS One, people with mental illnesses answered computer-programmed questions (like “How have you been over the past few days?”) over the phone. An app analyzed their word choices, paying attention to how they changed over time. The researchers found that AI analysis of mood aligned well with doctors’ assessments and that some people in the study actually felt more comfortable talking to a computer.
 

Respiratory disorders (pneumonia, COPD)

Beyond talking, respiratory sounds like gasping or coughing may point to specific conditions. “Emphysema cough is different, COPD cough is different,” says Dr. Bensoussan. Researchers are trying to find out if COVID-19 has a distinct cough.

Breathing sounds can also serve as signposts. “There are different sounds when we can’t breathe,” says Dr. Bensoussan. One is called stridor, a high-pitched wheezing often resulting from a blocked airway. “I see tons of people [with stridor] misdiagnosed for years – they’ve been told they have asthma, but they don’t,” says Dr. Bensoussan. AI analysis of these sounds could help doctors more quickly identify respiratory disorders.
 

Pediatric voice and speech disorders (speech and language delays, autism)

Babies who later have autism cry differently as early as 6 months of age, which means an app like ChatterBaby could help flag children for early intervention, says Dr. Anderson. Autism is linked to several other diagnoses, such as epilepsy and sleep disorders. So analyzing an infant’s cry could prompt pediatricians to screen for a range of conditions.

ChatterBaby has been “incredibly accurate” in identifying when babies are in pain, says Dr. Anderson, because pain increases muscle tension, resulting in a louder, more energetic cry. The next goal: “We’re collecting voices from babies around the world,” she says, and then tracking those children for 7 years, looking to see if early vocal signs could predict developmental disorders. Vocal samples from young children could serve a similar purpose.
 

And that’s only the beginning

Eventually, AI technology may pick up disease-related voice changes that we can’t even hear. In a new Mayo Clinic study, certain vocal features detectable by AI – but not by the human ear – were linked to a three-fold increase in the likelihood of having plaque buildup in the arteries.

“Voice is a huge spectrum of vibrations,” explains study author Amir Lerman, MD. “We hear a very narrow range.” 

The researchers aren’t sure why heart disease alters voice, but the autonomic nervous system may play a role, because it regulates the voice box as well as blood pressure and heart rate. Dr. Lerman says other conditions, like diseases of the nerves and gut, may similarly alter the voice. Beyond patient screening, this discovery could help doctors adjust medication doses remotely, in line with these inaudible vocal signals.

“Hopefully, in the next few years, this is going to come to practice,” says Dr. Lerman.

Still, in the face of that hope, privacy concerns remain. Voice is an identifier that’s protected by the federal Health Insurance Portability and Accountability Act, which requires privacy of personal health information. That is a major reason why no large voice databases exist yet, says Dr. Bensoussan. (This makes collecting samples from children especially challenging.) Perhaps more concerning is the potential for diagnosing disease based on voice alone. “You could use that tool on anyone, including officials like the president,” says Dr. Rameau.

But the primary hurdle is the ethical sourcing of data to ensure a diversity of vocal samples. For the Voice as a Biomarker project, the researchers will establish voice quotas for different races and ethnicities, ensuring algorithms can accurately analyze a range of accents. Data from people with speech impediments will also be gathered.

Despite these challenges, researchers are optimistic. “Vocal analysis is going to be a great equalizer and improve health outcomes,” predicts Dr. Anderson. “I’m really happy that we are beginning to understand the strength of the voice.”

A version of this article first appeared on WebMD.com.

Most of us have two voice changes in our lifetime: First during puberty, as the vocal cords thicken and the voice box migrates down the throat. Then a second time as aging causes structural changes that may weaken the voice.

But for some of us, there’s another voice shift, when a disease begins or when our mental health declines.

This is why more doctors are looking into voice as a biomarker – something that tells you that a disease is present.

Vital signs like blood pressure or heart rate “can give a general idea of how sick we are. But they’re not specific to certain diseases,” says Yael Bensoussan, MD, director of the University of South Florida, Tampa’s Health Voice Center and the coprincipal investigator for the National Institutes of Health’s Voice as a Biomarker of Health project.

“We’re learning that there are patterns” in voice changes that can indicate a range of conditions, including diseases of the nervous system and mental illnesses, she says.

Speaking is complicated, involving everything from the lungs and voice box to the mouth and brain. “A breakdown in any of those parts can affect the voice,” says Maria Powell, PhD, an assistant professor of otolaryngology (the study of diseases of the ear and throat) at Vanderbilt University, Nashville, Tenn., who is working on the NIH project.

You or those around you may not notice the changes. But researchers say voice analysis as a standard part of patient care – akin to blood pressure checks or cholesterol tests – could help identify those who need medical attention earlier.

Often, all it takes is a smartphone – “something that’s cheap, off-the-shelf, and that everyone can use,” says Ariana Anderson, PhD, director of the University of California, Los Angeles, Laboratory of Computational Neuropsychology.

“You can provide voice data in your pajamas, on your couch,” says Frank Rudzicz, PhD, a computer scientist for the NIH project. “It doesn’t require very complicated or expensive equipment, and it doesn’t require a lot of expertise to obtain.” Plus, multiple samples can be collected over time, giving a more accurate picture of health than a single snapshot from, say, a cognitive test.

Over the next 4 years, the Voice as a Biomarker team will receive nearly $18 million to gather a massive amount of voice data. The goal is 20,000-30,000 samples, along with health data about each person being studied. The result will be a sprawling database scientists can use to develop algorithms linking health conditions to the way we speak.

For the first 2 years, new data will be collected exclusively via universities and high-volume clinics to control quality and accuracy. Eventually, people will be invited to submit their own voice recordings, creating a crowdsourced dataset. “Google, Alexa, Amazon – they have access to tons of voice data,” says Dr. Bensoussan. “But it’s not usable in a clinical way, because they don’t have the health information.”

Dr. Bensoussan and her colleagues hope to fill that void with advance voice screening apps, which could prove especially valuable in remote communities that lack access to specialists or as a tool for telemedicine. Down the line, wearable devices with voice analysis could alert people with chronic conditions when they need to see a doctor.

“The watch says, ‘I’ve analyzed your breathing and coughing, and today, you’re really not doing well. You should go to the hospital,’ ” says Dr. Bensoussan, envisioning a wearable for patients with COPD. “It could tell people early that things are declining.”

Artificial intelligence may be better than a brain at pinpointing the right disease. For example, slurred speech could indicate Parkinson’s, a stroke, or ALS, among other things.

“We can hold approximately seven pieces of information in our head at one time,” says Dr. Rudzicz. “It’s really hard for us to get a holistic picture using dozens or hundreds of variables at once.” But a computer can consider a whole range of vocal markers at the same time, piecing them together for a more accurate assessment.

“The goal is not to outperform a ... clinician,” says Dr. Bensoussan. Yet the potential is unmistakably there: In a recent study of patients with cancer of the larynx, an automated voice analysis tool more accurately flagged the disease than laryngologists did. 

“Algorithms have a larger training base,” says Dr. Anderson, who developed an app called ChatterBaby that analyzes infant cries. “We have a million samples at our disposal to train our algorithms. I don’t know if I’ve heard a million different babies crying in my life.”

So which health conditions show the most promise for voice analysis? The Voice as a Biomarker project will focus on five categories.
 

Voice disorders (cancers of the larynx, vocal fold paralysis, benign lesions on the larynx)

Obviously, vocal changes are a hallmark of these conditions, which cause things like breathiness or “roughness,” a type of vocal irregularity. Hoarseness that lasts at least 2 weeks is often one of the earliest signs of laryngeal cancer. Yet it can take months – one study found 16 weeks was the average – for patients to see a doctor after noticing the changes. Even then, laryngologists still misdiagnosed some cases of cancer when relying on vocal cues alone.

Now imagine a different scenario: The patient speaks into a smartphone app. An algorithm compares the vocal sample with the voices of laryngeal cancer patients. The app spits out the estimated odds of laryngeal cancer, helping providers decide whether to offer the patient specialist care.

Or consider spasmodic dysphonia, a neurological voice disorder that triggers spasms in the muscles of the voice box, causing a strained or breathy voice. Doctors who lack experience with vocal disorders may miss the condition. This is why diagnosis takes an average of nearly 4.5 years, according to a study in the Journal of Voice, and may include everything from allergy testing to psychiatric evaluation, says Dr. Powell. Artificial intelligence technology trained to recognize the disorder could help eliminate such unnecessary testing.
 

Neurological and neurodegenerative disorders (Alzheimer’s, Parkinson’s, stroke, ALS) 

For Alzheimer’s and Parkinson’s, “one of the first changes that’s notable is voice,” usually appearing before a formal diagnosis, says Anais Rameau, MD, an assistant professor of laryngology at Weill Cornell Medicine, New York, and another member of the NIH project. Parkinson’s may soften the voice or make it sound monotone, while Alzheimer’s disease may change the content of speech, leading to an uptick in “umms” and a preference for pronouns over nouns.

With Parkinson’s, vocal changes can occur decades before movement is affected. If doctors could detect the disease at this stage, before tremor emerged, they might be able to flag patients for early intervention, says Max Little, PhD, project director for the Parkinson’s Voice Initiative. “That is the ‘holy grail’ for finding an eventual cure.”

Again, the smartphone shows potential. In a 2022 Australian study, an AI-powered app was able to identify people with Parkinson’s based on brief voice recordings, although the sample size was small. On a larger scale, the Parkinson’s Voice Initiative collected some 17,000 samples from people across the world. “The aim was to remotely detect those with the condition using a telephone call,” says Dr. Little. It did so with about 65% accuracy. “While this is not accurate enough for clinical use, it shows the potential of the idea,” he says.

Dr. Rudzicz worked on the team behind Winterlight, an iPad app that analyzes 550 features of speech to detect dementia and Alzheimer’s (as well as mental illness). “We deployed it in long-term care facilities,” he says, identifying patients who need further review of their mental skills. Stroke is another area of interest, because slurred speech is a highly subjective measure, says Dr. Anderson. AI technology could provide a more objective evaluation.
 

Mood and psychiatric disorders (depression, schizophrenia, bipolar disorders)

No established biomarkers exist for diagnosing depression. Yet if you’re feeling down, there’s a good chance your friends can tell – even over the phone.

“We carry a lot of our mood in our voice,” says Dr. Powell. Bipolar disorder can also alter voice, making it louder and faster during manic periods, then slower and quieter during depressive bouts. The catatonic stage of schizophrenia often comes with “a very monotone, robotic voice,” says Dr. Anderson. “These are all something an algorithm can measure.”

Apps are already being used – often in research settings – to monitor voices during phone calls, analyzing rate, rhythm, volume, and pitch, to predict mood changes. For example, the PRIORI project at the University of Michigan is working on a smartphone app to identify mood changes in people with bipolar disorder, especially shifts that could increase suicide risk.

The content of speech may also offer clues. In a University of California, Los Angeles, study published in the journal PLoS One, people with mental illnesses answered computer-programmed questions (like “How have you been over the past few days?”) over the phone. An app analyzed their word choices, paying attention to how they changed over time. The researchers found that AI analysis of mood aligned well with doctors’ assessments and that some people in the study actually felt more comfortable talking to a computer.
 

Respiratory disorders (pneumonia, COPD)

Beyond talking, respiratory sounds like gasping or coughing may point to specific conditions. “Emphysema cough is different, COPD cough is different,” says Dr. Bensoussan. Researchers are trying to find out if COVID-19 has a distinct cough.

Breathing sounds can also serve as signposts. “There are different sounds when we can’t breathe,” says Dr. Bensoussan. One is called stridor, a high-pitched wheezing often resulting from a blocked airway. “I see tons of people [with stridor] misdiagnosed for years – they’ve been told they have asthma, but they don’t,” says Dr. Bensoussan. AI analysis of these sounds could help doctors more quickly identify respiratory disorders.
 

Pediatric voice and speech disorders (speech and language delays, autism)

Babies who later have autism cry differently as early as 6 months of age, which means an app like ChatterBaby could help flag children for early intervention, says Dr. Anderson. Autism is linked to several other diagnoses, such as epilepsy and sleep disorders. So analyzing an infant’s cry could prompt pediatricians to screen for a range of conditions.

ChatterBaby has been “incredibly accurate” in identifying when babies are in pain, says Dr. Anderson, because pain increases muscle tension, resulting in a louder, more energetic cry. The next goal: “We’re collecting voices from babies around the world,” she says, and then tracking those children for 7 years, looking to see if early vocal signs could predict developmental disorders. Vocal samples from young children could serve a similar purpose.
 

And that’s only the beginning

Eventually, AI technology may pick up disease-related voice changes that we can’t even hear. In a new Mayo Clinic study, certain vocal features detectable by AI – but not by the human ear – were linked to a three-fold increase in the likelihood of having plaque buildup in the arteries.

“Voice is a huge spectrum of vibrations,” explains study author Amir Lerman, MD. “We hear a very narrow range.” 

The researchers aren’t sure why heart disease alters voice, but the autonomic nervous system may play a role, because it regulates the voice box as well as blood pressure and heart rate. Dr. Lerman says other conditions, like diseases of the nerves and gut, may similarly alter the voice. Beyond patient screening, this discovery could help doctors adjust medication doses remotely, in line with these inaudible vocal signals.

“Hopefully, in the next few years, this is going to come to practice,” says Dr. Lerman.

Still, in the face of that hope, privacy concerns remain. Voice is an identifier that’s protected by the federal Health Insurance Portability and Accountability Act, which requires privacy of personal health information. That is a major reason why no large voice databases exist yet, says Dr. Bensoussan. (This makes collecting samples from children especially challenging.) Perhaps more concerning is the potential for diagnosing disease based on voice alone. “You could use that tool on anyone, including officials like the president,” says Dr. Rameau.

But the primary hurdle is the ethical sourcing of data to ensure a diversity of vocal samples. For the Voice as a Biomarker project, the researchers will establish voice quotas for different races and ethnicities, ensuring algorithms can accurately analyze a range of accents. Data from people with speech impediments will also be gathered.

Despite these challenges, researchers are optimistic. “Vocal analysis is going to be a great equalizer and improve health outcomes,” predicts Dr. Anderson. “I’m really happy that we are beginning to understand the strength of the voice.”

A version of this article first appeared on WebMD.com.

Most of us have two voice changes in our lifetime: First during puberty, as the vocal cords thicken and the voice box migrates down the throat. Then a second time as aging causes structural changes that may weaken the voice.

But for some of us, there’s another voice shift, when a disease begins or when our mental health declines.

This is why more doctors are looking into voice as a biomarker – something that tells you that a disease is present.

Vital signs like blood pressure or heart rate “can give a general idea of how sick we are. But they’re not specific to certain diseases,” says Yael Bensoussan, MD, director of the University of South Florida, Tampa’s Health Voice Center and the coprincipal investigator for the National Institutes of Health’s Voice as a Biomarker of Health project.

“We’re learning that there are patterns” in voice changes that can indicate a range of conditions, including diseases of the nervous system and mental illnesses, she says.

Speaking is complicated, involving everything from the lungs and voice box to the mouth and brain. “A breakdown in any of those parts can affect the voice,” says Maria Powell, PhD, an assistant professor of otolaryngology (the study of diseases of the ear and throat) at Vanderbilt University, Nashville, Tenn., who is working on the NIH project.

You or those around you may not notice the changes. But researchers say voice analysis as a standard part of patient care – akin to blood pressure checks or cholesterol tests – could help identify those who need medical attention earlier.

Often, all it takes is a smartphone – “something that’s cheap, off-the-shelf, and that everyone can use,” says Ariana Anderson, PhD, director of the University of California, Los Angeles, Laboratory of Computational Neuropsychology.

“You can provide voice data in your pajamas, on your couch,” says Frank Rudzicz, PhD, a computer scientist for the NIH project. “It doesn’t require very complicated or expensive equipment, and it doesn’t require a lot of expertise to obtain.” Plus, multiple samples can be collected over time, giving a more accurate picture of health than a single snapshot from, say, a cognitive test.

Over the next 4 years, the Voice as a Biomarker team will receive nearly $18 million to gather a massive amount of voice data. The goal is 20,000-30,000 samples, along with health data about each person being studied. The result will be a sprawling database scientists can use to develop algorithms linking health conditions to the way we speak.

For the first 2 years, new data will be collected exclusively via universities and high-volume clinics to control quality and accuracy. Eventually, people will be invited to submit their own voice recordings, creating a crowdsourced dataset. “Google, Alexa, Amazon – they have access to tons of voice data,” says Dr. Bensoussan. “But it’s not usable in a clinical way, because they don’t have the health information.”

Dr. Bensoussan and her colleagues hope to fill that void with advance voice screening apps, which could prove especially valuable in remote communities that lack access to specialists or as a tool for telemedicine. Down the line, wearable devices with voice analysis could alert people with chronic conditions when they need to see a doctor.

“The watch says, ‘I’ve analyzed your breathing and coughing, and today, you’re really not doing well. You should go to the hospital,’ ” says Dr. Bensoussan, envisioning a wearable for patients with COPD. “It could tell people early that things are declining.”

Artificial intelligence may be better than a brain at pinpointing the right disease. For example, slurred speech could indicate Parkinson’s, a stroke, or ALS, among other things.

“We can hold approximately seven pieces of information in our head at one time,” says Dr. Rudzicz. “It’s really hard for us to get a holistic picture using dozens or hundreds of variables at once.” But a computer can consider a whole range of vocal markers at the same time, piecing them together for a more accurate assessment.

“The goal is not to outperform a ... clinician,” says Dr. Bensoussan. Yet the potential is unmistakably there: In a recent study of patients with cancer of the larynx, an automated voice analysis tool more accurately flagged the disease than laryngologists did. 

“Algorithms have a larger training base,” says Dr. Anderson, who developed an app called ChatterBaby that analyzes infant cries. “We have a million samples at our disposal to train our algorithms. I don’t know if I’ve heard a million different babies crying in my life.”

So which health conditions show the most promise for voice analysis? The Voice as a Biomarker project will focus on five categories.
 

Voice disorders (cancers of the larynx, vocal fold paralysis, benign lesions on the larynx)

Obviously, vocal changes are a hallmark of these conditions, which cause things like breathiness or “roughness,” a type of vocal irregularity. Hoarseness that lasts at least 2 weeks is often one of the earliest signs of laryngeal cancer. Yet it can take months – one study found 16 weeks was the average – for patients to see a doctor after noticing the changes. Even then, laryngologists still misdiagnosed some cases of cancer when relying on vocal cues alone.

Now imagine a different scenario: The patient speaks into a smartphone app. An algorithm compares the vocal sample with the voices of laryngeal cancer patients. The app spits out the estimated odds of laryngeal cancer, helping providers decide whether to offer the patient specialist care.

Or consider spasmodic dysphonia, a neurological voice disorder that triggers spasms in the muscles of the voice box, causing a strained or breathy voice. Doctors who lack experience with vocal disorders may miss the condition. This is why diagnosis takes an average of nearly 4.5 years, according to a study in the Journal of Voice, and may include everything from allergy testing to psychiatric evaluation, says Dr. Powell. Artificial intelligence technology trained to recognize the disorder could help eliminate such unnecessary testing.
 

Neurological and neurodegenerative disorders (Alzheimer’s, Parkinson’s, stroke, ALS) 

For Alzheimer’s and Parkinson’s, “one of the first changes that’s notable is voice,” usually appearing before a formal diagnosis, says Anais Rameau, MD, an assistant professor of laryngology at Weill Cornell Medicine, New York, and another member of the NIH project. Parkinson’s may soften the voice or make it sound monotone, while Alzheimer’s disease may change the content of speech, leading to an uptick in “umms” and a preference for pronouns over nouns.

With Parkinson’s, vocal changes can occur decades before movement is affected. If doctors could detect the disease at this stage, before tremor emerged, they might be able to flag patients for early intervention, says Max Little, PhD, project director for the Parkinson’s Voice Initiative. “That is the ‘holy grail’ for finding an eventual cure.”

Again, the smartphone shows potential. In a 2022 Australian study, an AI-powered app was able to identify people with Parkinson’s based on brief voice recordings, although the sample size was small. On a larger scale, the Parkinson’s Voice Initiative collected some 17,000 samples from people across the world. “The aim was to remotely detect those with the condition using a telephone call,” says Dr. Little. It did so with about 65% accuracy. “While this is not accurate enough for clinical use, it shows the potential of the idea,” he says.

Dr. Rudzicz worked on the team behind Winterlight, an iPad app that analyzes 550 features of speech to detect dementia and Alzheimer’s (as well as mental illness). “We deployed it in long-term care facilities,” he says, identifying patients who need further review of their mental skills. Stroke is another area of interest, because slurred speech is a highly subjective measure, says Dr. Anderson. AI technology could provide a more objective evaluation.
 

Mood and psychiatric disorders (depression, schizophrenia, bipolar disorders)

No established biomarkers exist for diagnosing depression. Yet if you’re feeling down, there’s a good chance your friends can tell – even over the phone.

“We carry a lot of our mood in our voice,” says Dr. Powell. Bipolar disorder can also alter voice, making it louder and faster during manic periods, then slower and quieter during depressive bouts. The catatonic stage of schizophrenia often comes with “a very monotone, robotic voice,” says Dr. Anderson. “These are all something an algorithm can measure.”

Apps are already being used – often in research settings – to monitor voices during phone calls, analyzing rate, rhythm, volume, and pitch, to predict mood changes. For example, the PRIORI project at the University of Michigan is working on a smartphone app to identify mood changes in people with bipolar disorder, especially shifts that could increase suicide risk.

The content of speech may also offer clues. In a University of California, Los Angeles, study published in the journal PLoS One, people with mental illnesses answered computer-programmed questions (like “How have you been over the past few days?”) over the phone. An app analyzed their word choices, paying attention to how they changed over time. The researchers found that AI analysis of mood aligned well with doctors’ assessments and that some people in the study actually felt more comfortable talking to a computer.
 

Respiratory disorders (pneumonia, COPD)

Beyond talking, respiratory sounds like gasping or coughing may point to specific conditions. “Emphysema cough is different, COPD cough is different,” says Dr. Bensoussan. Researchers are trying to find out if COVID-19 has a distinct cough.

Breathing sounds can also serve as signposts. “There are different sounds when we can’t breathe,” says Dr. Bensoussan. One is called stridor, a high-pitched wheezing often resulting from a blocked airway. “I see tons of people [with stridor] misdiagnosed for years – they’ve been told they have asthma, but they don’t,” says Dr. Bensoussan. AI analysis of these sounds could help doctors more quickly identify respiratory disorders.
 

Pediatric voice and speech disorders (speech and language delays, autism)

Babies who later have autism cry differently as early as 6 months of age, which means an app like ChatterBaby could help flag children for early intervention, says Dr. Anderson. Autism is linked to several other diagnoses, such as epilepsy and sleep disorders. So analyzing an infant’s cry could prompt pediatricians to screen for a range of conditions.

ChatterBaby has been “incredibly accurate” in identifying when babies are in pain, says Dr. Anderson, because pain increases muscle tension, resulting in a louder, more energetic cry. The next goal: “We’re collecting voices from babies around the world,” she says, and then tracking those children for 7 years, looking to see if early vocal signs could predict developmental disorders. Vocal samples from young children could serve a similar purpose.
 

And that’s only the beginning

Eventually, AI technology may pick up disease-related voice changes that we can’t even hear. In a new Mayo Clinic study, certain vocal features detectable by AI – but not by the human ear – were linked to a three-fold increase in the likelihood of having plaque buildup in the arteries.

“Voice is a huge spectrum of vibrations,” explains study author Amir Lerman, MD. “We hear a very narrow range.” 

The researchers aren’t sure why heart disease alters voice, but the autonomic nervous system may play a role, because it regulates the voice box as well as blood pressure and heart rate. Dr. Lerman says other conditions, like diseases of the nerves and gut, may similarly alter the voice. Beyond patient screening, this discovery could help doctors adjust medication doses remotely, in line with these inaudible vocal signals.

“Hopefully, in the next few years, this is going to come to practice,” says Dr. Lerman.

Still, in the face of that hope, privacy concerns remain. Voice is an identifier that’s protected by the federal Health Insurance Portability and Accountability Act, which requires privacy of personal health information. That is a major reason why no large voice databases exist yet, says Dr. Bensoussan. (This makes collecting samples from children especially challenging.) Perhaps more concerning is the potential for diagnosing disease based on voice alone. “You could use that tool on anyone, including officials like the president,” says Dr. Rameau.

But the primary hurdle is the ethical sourcing of data to ensure a diversity of vocal samples. For the Voice as a Biomarker project, the researchers will establish voice quotas for different races and ethnicities, ensuring algorithms can accurately analyze a range of accents. Data from people with speech impediments will also be gathered.

Despite these challenges, researchers are optimistic. “Vocal analysis is going to be a great equalizer and improve health outcomes,” predicts Dr. Anderson. “I’m really happy that we are beginning to understand the strength of the voice.”

A version of this article first appeared on WebMD.com.

Bathing in cold water or ice may cut “bad” body fat and reduce the risk of disorders such as diabetes, but other claims of health benefits are less defined, according to researchers from the Arctic University of Norway and the University Hospital of North Norway.

What to know

• Immersion in cold water has a major impact on the body. It elevates the heart rate and has positive effects on brown adipose tissue, a type of “good” body fat that is activated by cold and may protect against and cardiovascular disease.
• Exposure to cold water or cold air also appears to increase the production of the protein adiponectin by adipose tissue. Adiponectin plays a key role in protecting against , diabetes, and other diseases.
• Repeated cold-water immersions by inexperienced as well as experienced swimmers during the winter months significantly increased sensitivity and decreased insulin concentrations.
• Numerous health and well-being claims from regular exposure to the cold, such as weight loss, better mental health, and increased libido, may be explained by other factors, including an active lifestyle, trained stress handling, and social interactions, as well as a positive mindset.
• Those seeking to voluntarily practice cold-water immersion need to be educated about possible health risks associated with taking a dip in icy water, which include the consequences of hypothermia, and of heart and lung problems, which are often related to the shock from the cold.

This is a summary of the article, “Health effects of voluntary exposure to cold water – a continuing subject of debate,” published by the International Journal of Circumpolar Health.

A version of this article first appeared on Medscape.com.

Bathing in cold water or ice may cut “bad” body fat and reduce the risk of disorders such as diabetes, but other claims of health benefits are less defined, according to researchers from the Arctic University of Norway and the University Hospital of North Norway.

What to know

• Immersion in cold water has a major impact on the body. It elevates the heart rate and has positive effects on brown adipose tissue, a type of “good” body fat that is activated by cold and may protect against and cardiovascular disease.
• Exposure to cold water or cold air also appears to increase the production of the protein adiponectin by adipose tissue. Adiponectin plays a key role in protecting against , diabetes, and other diseases.
• Repeated cold-water immersions by inexperienced as well as experienced swimmers during the winter months significantly increased sensitivity and decreased insulin concentrations.
• Numerous health and well-being claims from regular exposure to the cold, such as weight loss, better mental health, and increased libido, may be explained by other factors, including an active lifestyle, trained stress handling, and social interactions, as well as a positive mindset.
• Those seeking to voluntarily practice cold-water immersion need to be educated about possible health risks associated with taking a dip in icy water, which include the consequences of hypothermia, and of heart and lung problems, which are often related to the shock from the cold.

This is a summary of the article, “Health effects of voluntary exposure to cold water – a continuing subject of debate,” published by the International Journal of Circumpolar Health.

A version of this article first appeared on Medscape.com.

Bathing in cold water or ice may cut “bad” body fat and reduce the risk of disorders such as diabetes, but other claims of health benefits are less defined, according to researchers from the Arctic University of Norway and the University Hospital of North Norway.

What to know

• Immersion in cold water has a major impact on the body. It elevates the heart rate and has positive effects on brown adipose tissue, a type of “good” body fat that is activated by cold and may protect against and cardiovascular disease.
• Exposure to cold water or cold air also appears to increase the production of the protein adiponectin by adipose tissue. Adiponectin plays a key role in protecting against , diabetes, and other diseases.
• Repeated cold-water immersions by inexperienced as well as experienced swimmers during the winter months significantly increased sensitivity and decreased insulin concentrations.
• Numerous health and well-being claims from regular exposure to the cold, such as weight loss, better mental health, and increased libido, may be explained by other factors, including an active lifestyle, trained stress handling, and social interactions, as well as a positive mindset.
• Those seeking to voluntarily practice cold-water immersion need to be educated about possible health risks associated with taking a dip in icy water, which include the consequences of hypothermia, and of heart and lung problems, which are often related to the shock from the cold.

This is a summary of the article, “Health effects of voluntary exposure to cold water – a continuing subject of debate,” published by the International Journal of Circumpolar Health.

A version of this article first appeared on Medscape.com.

Lawmakers in several conservative-led states – including Montana, Wyoming, Missouri, and Mississippi – are expected to consider proposals to provide a year of continuous health coverage to new mothers enrolled in Medicaid.

Medicaid beneficiaries nationwide are guaranteed continuous postpartum coverage during the ongoing covid-19 public health emergency. But momentum has been building for states to extend the default 60-day required coverage period ahead of the emergency’s eventual end. Approximately 42% of births nationwide are covered under Medicaid, the federal-state health insurance program for low-income people, and extending postpartum coverage aims to reduce the risk of pregnancy-related deaths and illnesses by ensuring that new mothers’ medical care isn’t interrupted.

The push comes as a provision in the American Rescue Plan Act makes extending postpartum Medicaid coverage easier because states no longer need to apply for a waiver. A renewed focus on maternal health amid high U.S. maternal mortality rates also is driving the proposals, as is the expectation that more women will need postpartum care as state abortion bans proliferate in the wake of the U.S. Supreme Court’s decision to eliminate federal protections.

Thirty-five states and Washington have already extended, or plan to extend, postpartum eligibility in their Medicaid programs. That number includes Texas and Wisconsin, which did not implement the ARPA provision but have proposed limited extensions of 6 months and 90 days, respectively.

The 15 states that limit postpartum Medicaid eligibility to 60 days are predominantly a swath of Republican-led states that stretch from the Mountain West to the South. But that could change when legislative sessions start in the new year.

In Montana, Republican Gov. Greg Gianforte and Department of Public Health and Human Services Director Charlie Brereton included 12-month postpartum eligibility in the governor’s proposed state budget. It would cost $9.2 million in federal and state funding over the next 2 years, according to the proposal, with the federal government covering nearly 70%.

A 2021 U.S. Department of Health and Human Services report estimated about 2,000 women in Montana would benefit from the change. State health department spokesperson Jon Ebelt said state officials’ estimate is half that number. The reason for the disparity was not immediately clear.

Mr. Brereton considers the “extension of coverage for new mothers to be a pro-life, pro-family reform,” Mr. Ebelt said.

To become law, the proposal must be approved by state lawmakers once the legislative session begins in January. It has already received enthusiastic support from the senior Democrat on the committee that oversees the health department’s budget. “Continuous eligibility for women after they have a baby is really important,” said state Rep. Mary Caferro during the Children’s Legislative Forum in Helena on Nov. 30.

The top Republican on the committee, state Rep.-elect Bob Keenan, said he hasn’t dug in on the governor’s budget proposal but added that he plans to survey his fellow lawmakers and health care providers on the postpartum extension. “I wouldn’t dare venture a guess as to its acceptance,” he said.

Nationwide, more than 1 in 5 mothers whose pregnancies were covered by Medicaid lose their insurance within 6 months of giving birth, and 1 in 3 pregnancy-related deaths happen between a week and a year after a birth occurs, according to federal health officials.

The United States had the highest overall maternal mortality rate, by far, among wealthy nations in 2020, at 23.8 deaths per 100,000 births, according to a report by the Commonwealth Fund, a foundation that supports research focused on health care issues. The rate for Black women in the United States is even higher, 55.3 deaths.

“Many maternal deaths result from missed or delayed opportunities for treatment,” the report said.

The maternal mortality rate in Montana is not publicly available because the Centers for Disease Control and Prevention suppressed the state data in 2020 “due to reliability and confidentiality restrictions.” Mr. Ebelt, the state health department spokesperson, could not provide a rate before this article’s publication.

Annie Glover, a senior research scientist for the University of Montana’s Rural Institute for Inclusive Communities, said the governor’s proposal to extend postpartum Medicaid coverage could make a significant difference in improving overall maternal health in Montana. The university was awarded a federal grant this year for such efforts, particularly to lower the mortality rate among Native Americans, and Ms. Glover said the state measure could further reduce rates.

“The reason really has to do with maintaining access to care during this very critical period,” Ms. Glover said. That goes for helping mothers with postpartum depression, as well as medical conditions like high blood pressure that require follow-ups with a physician well after delivery, she said.

In Wyoming, a legislative committee voted 6-5 in August to introduce a bill in the next session; dissenters cited the cost and their reluctance to further entangle the state in federal government programs.

About a third of Wyoming births are covered by Medicaid, and state officials estimate about 1,250 women would benefit from the change.

Postpartum eligibility bills are also expected to be taken up by legislators in Missouri and Mississippi, two states that have previously grappled with the issue. Both states have outlawed most abortions since the U.S. Supreme Court lifted federal protections in June, and Mississippi leaders have said additional postpartum care is needed because of the thousands of additional births expected as a result of the state’s ban.

A proposed coverage expansion died in the Mississippi House last session, but Lt. Gov. Delbert Hosemann said the Senate will revive the measure, according to Mississippi Today.

Last year, federal officials approved a Medicaid waiver for Missouri that allows the state to extend postpartum eligibility. But state officials delayed implementing the change to determine how enrollment would be affected by Missouri voters’ decision in August 2020 to expand Medicaid eligibility to more people. The delay prompted a bill to be filed last session that would have extended postpartum coverage by a year. That measure died, but a state lawmaker has pre-filed a bill that will bring back the debate in the upcoming session.

In Idaho, a children’s advocacy group said it will press lawmakers to approve a postpartum eligibility extension, among other measures, after the state banned nearly all abortions this year.
 

KHN (Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs at KFF (Kaiser Family Foundation). KFF is an endowed nonprofit organization providing information on health issues to the nation.

Lawmakers in several conservative-led states – including Montana, Wyoming, Missouri, and Mississippi – are expected to consider proposals to provide a year of continuous health coverage to new mothers enrolled in Medicaid.

Medicaid beneficiaries nationwide are guaranteed continuous postpartum coverage during the ongoing covid-19 public health emergency. But momentum has been building for states to extend the default 60-day required coverage period ahead of the emergency’s eventual end. Approximately 42% of births nationwide are covered under Medicaid, the federal-state health insurance program for low-income people, and extending postpartum coverage aims to reduce the risk of pregnancy-related deaths and illnesses by ensuring that new mothers’ medical care isn’t interrupted.

The push comes as a provision in the American Rescue Plan Act makes extending postpartum Medicaid coverage easier because states no longer need to apply for a waiver. A renewed focus on maternal health amid high U.S. maternal mortality rates also is driving the proposals, as is the expectation that more women will need postpartum care as state abortion bans proliferate in the wake of the U.S. Supreme Court’s decision to eliminate federal protections.

Thirty-five states and Washington have already extended, or plan to extend, postpartum eligibility in their Medicaid programs. That number includes Texas and Wisconsin, which did not implement the ARPA provision but have proposed limited extensions of 6 months and 90 days, respectively.

The 15 states that limit postpartum Medicaid eligibility to 60 days are predominantly a swath of Republican-led states that stretch from the Mountain West to the South. But that could change when legislative sessions start in the new year.

In Montana, Republican Gov. Greg Gianforte and Department of Public Health and Human Services Director Charlie Brereton included 12-month postpartum eligibility in the governor’s proposed state budget. It would cost $9.2 million in federal and state funding over the next 2 years, according to the proposal, with the federal government covering nearly 70%.

A 2021 U.S. Department of Health and Human Services report estimated about 2,000 women in Montana would benefit from the change. State health department spokesperson Jon Ebelt said state officials’ estimate is half that number. The reason for the disparity was not immediately clear.

Mr. Brereton considers the “extension of coverage for new mothers to be a pro-life, pro-family reform,” Mr. Ebelt said.

To become law, the proposal must be approved by state lawmakers once the legislative session begins in January. It has already received enthusiastic support from the senior Democrat on the committee that oversees the health department’s budget. “Continuous eligibility for women after they have a baby is really important,” said state Rep. Mary Caferro during the Children’s Legislative Forum in Helena on Nov. 30.

The top Republican on the committee, state Rep.-elect Bob Keenan, said he hasn’t dug in on the governor’s budget proposal but added that he plans to survey his fellow lawmakers and health care providers on the postpartum extension. “I wouldn’t dare venture a guess as to its acceptance,” he said.

Nationwide, more than 1 in 5 mothers whose pregnancies were covered by Medicaid lose their insurance within 6 months of giving birth, and 1 in 3 pregnancy-related deaths happen between a week and a year after a birth occurs, according to federal health officials.

The United States had the highest overall maternal mortality rate, by far, among wealthy nations in 2020, at 23.8 deaths per 100,000 births, according to a report by the Commonwealth Fund, a foundation that supports research focused on health care issues. The rate for Black women in the United States is even higher, 55.3 deaths.

“Many maternal deaths result from missed or delayed opportunities for treatment,” the report said.

The maternal mortality rate in Montana is not publicly available because the Centers for Disease Control and Prevention suppressed the state data in 2020 “due to reliability and confidentiality restrictions.” Mr. Ebelt, the state health department spokesperson, could not provide a rate before this article’s publication.

Annie Glover, a senior research scientist for the University of Montana’s Rural Institute for Inclusive Communities, said the governor’s proposal to extend postpartum Medicaid coverage could make a significant difference in improving overall maternal health in Montana. The university was awarded a federal grant this year for such efforts, particularly to lower the mortality rate among Native Americans, and Ms. Glover said the state measure could further reduce rates.

“The reason really has to do with maintaining access to care during this very critical period,” Ms. Glover said. That goes for helping mothers with postpartum depression, as well as medical conditions like high blood pressure that require follow-ups with a physician well after delivery, she said.

In Wyoming, a legislative committee voted 6-5 in August to introduce a bill in the next session; dissenters cited the cost and their reluctance to further entangle the state in federal government programs.

About a third of Wyoming births are covered by Medicaid, and state officials estimate about 1,250 women would benefit from the change.

Postpartum eligibility bills are also expected to be taken up by legislators in Missouri and Mississippi, two states that have previously grappled with the issue. Both states have outlawed most abortions since the U.S. Supreme Court lifted federal protections in June, and Mississippi leaders have said additional postpartum care is needed because of the thousands of additional births expected as a result of the state’s ban.

A proposed coverage expansion died in the Mississippi House last session, but Lt. Gov. Delbert Hosemann said the Senate will revive the measure, according to Mississippi Today.

Last year, federal officials approved a Medicaid waiver for Missouri that allows the state to extend postpartum eligibility. But state officials delayed implementing the change to determine how enrollment would be affected by Missouri voters’ decision in August 2020 to expand Medicaid eligibility to more people. The delay prompted a bill to be filed last session that would have extended postpartum coverage by a year. That measure died, but a state lawmaker has pre-filed a bill that will bring back the debate in the upcoming session.

In Idaho, a children’s advocacy group said it will press lawmakers to approve a postpartum eligibility extension, among other measures, after the state banned nearly all abortions this year.
 

KHN (Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs at KFF (Kaiser Family Foundation). KFF is an endowed nonprofit organization providing information on health issues to the nation.

Lawmakers in several conservative-led states – including Montana, Wyoming, Missouri, and Mississippi – are expected to consider proposals to provide a year of continuous health coverage to new mothers enrolled in Medicaid.

Medicaid beneficiaries nationwide are guaranteed continuous postpartum coverage during the ongoing covid-19 public health emergency. But momentum has been building for states to extend the default 60-day required coverage period ahead of the emergency’s eventual end. Approximately 42% of births nationwide are covered under Medicaid, the federal-state health insurance program for low-income people, and extending postpartum coverage aims to reduce the risk of pregnancy-related deaths and illnesses by ensuring that new mothers’ medical care isn’t interrupted.

The push comes as a provision in the American Rescue Plan Act makes extending postpartum Medicaid coverage easier because states no longer need to apply for a waiver. A renewed focus on maternal health amid high U.S. maternal mortality rates also is driving the proposals, as is the expectation that more women will need postpartum care as state abortion bans proliferate in the wake of the U.S. Supreme Court’s decision to eliminate federal protections.

Thirty-five states and Washington have already extended, or plan to extend, postpartum eligibility in their Medicaid programs. That number includes Texas and Wisconsin, which did not implement the ARPA provision but have proposed limited extensions of 6 months and 90 days, respectively.

The 15 states that limit postpartum Medicaid eligibility to 60 days are predominantly a swath of Republican-led states that stretch from the Mountain West to the South. But that could change when legislative sessions start in the new year.

In Montana, Republican Gov. Greg Gianforte and Department of Public Health and Human Services Director Charlie Brereton included 12-month postpartum eligibility in the governor’s proposed state budget. It would cost $9.2 million in federal and state funding over the next 2 years, according to the proposal, with the federal government covering nearly 70%.

A 2021 U.S. Department of Health and Human Services report estimated about 2,000 women in Montana would benefit from the change. State health department spokesperson Jon Ebelt said state officials’ estimate is half that number. The reason for the disparity was not immediately clear.

Mr. Brereton considers the “extension of coverage for new mothers to be a pro-life, pro-family reform,” Mr. Ebelt said.

To become law, the proposal must be approved by state lawmakers once the legislative session begins in January. It has already received enthusiastic support from the senior Democrat on the committee that oversees the health department’s budget. “Continuous eligibility for women after they have a baby is really important,” said state Rep. Mary Caferro during the Children’s Legislative Forum in Helena on Nov. 30.

The top Republican on the committee, state Rep.-elect Bob Keenan, said he hasn’t dug in on the governor’s budget proposal but added that he plans to survey his fellow lawmakers and health care providers on the postpartum extension. “I wouldn’t dare venture a guess as to its acceptance,” he said.

Nationwide, more than 1 in 5 mothers whose pregnancies were covered by Medicaid lose their insurance within 6 months of giving birth, and 1 in 3 pregnancy-related deaths happen between a week and a year after a birth occurs, according to federal health officials.

The United States had the highest overall maternal mortality rate, by far, among wealthy nations in 2020, at 23.8 deaths per 100,000 births, according to a report by the Commonwealth Fund, a foundation that supports research focused on health care issues. The rate for Black women in the United States is even higher, 55.3 deaths.

“Many maternal deaths result from missed or delayed opportunities for treatment,” the report said.

The maternal mortality rate in Montana is not publicly available because the Centers for Disease Control and Prevention suppressed the state data in 2020 “due to reliability and confidentiality restrictions.” Mr. Ebelt, the state health department spokesperson, could not provide a rate before this article’s publication.

Annie Glover, a senior research scientist for the University of Montana’s Rural Institute for Inclusive Communities, said the governor’s proposal to extend postpartum Medicaid coverage could make a significant difference in improving overall maternal health in Montana. The university was awarded a federal grant this year for such efforts, particularly to lower the mortality rate among Native Americans, and Ms. Glover said the state measure could further reduce rates.

“The reason really has to do with maintaining access to care during this very critical period,” Ms. Glover said. That goes for helping mothers with postpartum depression, as well as medical conditions like high blood pressure that require follow-ups with a physician well after delivery, she said.

In Wyoming, a legislative committee voted 6-5 in August to introduce a bill in the next session; dissenters cited the cost and their reluctance to further entangle the state in federal government programs.

About a third of Wyoming births are covered by Medicaid, and state officials estimate about 1,250 women would benefit from the change.

Postpartum eligibility bills are also expected to be taken up by legislators in Missouri and Mississippi, two states that have previously grappled with the issue. Both states have outlawed most abortions since the U.S. Supreme Court lifted federal protections in June, and Mississippi leaders have said additional postpartum care is needed because of the thousands of additional births expected as a result of the state’s ban.

A proposed coverage expansion died in the Mississippi House last session, but Lt. Gov. Delbert Hosemann said the Senate will revive the measure, according to Mississippi Today.

Last year, federal officials approved a Medicaid waiver for Missouri that allows the state to extend postpartum eligibility. But state officials delayed implementing the change to determine how enrollment would be affected by Missouri voters’ decision in August 2020 to expand Medicaid eligibility to more people. The delay prompted a bill to be filed last session that would have extended postpartum coverage by a year. That measure died, but a state lawmaker has pre-filed a bill that will bring back the debate in the upcoming session.

In Idaho, a children’s advocacy group said it will press lawmakers to approve a postpartum eligibility extension, among other measures, after the state banned nearly all abortions this year.
 

KHN (Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs at KFF (Kaiser Family Foundation). KFF is an endowed nonprofit organization providing information on health issues to the nation.

A new California law ensures that doctors found to have engaged in sexual misconduct with patients will never again practice medicine in the state.

It’s the latest example of states taking doctor sexual misconduct more seriously after longstanding criticism that medical boards have been too lenient.

The law, which takes effect in January 2023, requires the state’s medical board to permanently revoke these doctors’ licenses instead of allowing them to petition the board for reinstatement after 3 years.

“Physician licenses should not be reinstated after egregious sexual misconduct with patients. The doctor-patient relationship has to remain sacrosanct and trusted,” said Peter Yellowlees, MD, a professor of psychiatry at the University of California, Davis.

Although the vast majority of the nation’s estimated 1 million doctors don’t sexually abuse patients, the problem is a national one.

The Federation of State Medical Boards defines sexual misconduct as the exploitation of the physician-patient relationship in a sexual way. The exploitation may be verbal or physical and can occur in person or virtually.

The FSMB conducted a 2-year review of how medical boards handled cases of sexual misconduct, issuing a report in 2020 that contained 38 recommended actions.

Four states in addition to California have enacted laws that incorporate some FSMB recommendations. These include revoking doctors’ licenses after a single egregious act of sexual misconduct (including sexual assault), regardless of whether the physician was charged or convicted; increased reporting by hospitals and doctors of sexual misconduct; and training of physicians to recognize and report sexual misconduct.

The four state laws are:

• Georgia’s HB 458. It was signed into law in May 2021, and it authorizes the medical board to revoke or suspend a license if a physician is found guilty of sexually assaulting a patient in a criminal case. Doctors are required to report other doctors who have sexually abused patients and to take continuing medical education (CME) units on sexual misconduct.
• Florida’s SB 1934. This legislation was signed into law in June 2021, and it bars physicians charged with serious crimes such as sexual assault, sexual misconduct against patients, or possession of child pornography from seeing patients until those charges are resolved by the legal system.
• West Virginia’s SB 603. Signed into law in March 2022 it prohibits the medical board from issuing a license to a physician who engaged in sexual activity or misconduct with a patient whose license was revoked in another state or was involved in other violations.
• Tennessee HB 1045. It was signed into law in May 2021, and authorizes the medical board, upon learning of an indictment against a physician for a controlled substance violation or sexual offense, to immediately suspend the doctor’s ability to prescribe controlled substances until the doctor’s case is resolved.

A published study identified a total of 1,721 reports of physician sexual misconduct that were submitted to the National Practitioner Data Bank between 2000 and 2019. The annual incidence of sexual misconduct reports averaged 10.8 per 100,000 U.S. physician licensees, said the researchers.

In a groundbreaking 2016 investigation, the Atlanta Journal-Constitution reviewed thousands of documents and found more than 2,400 doctors whose sexual misconduct cases clearly involved patients since 1999.
 

Physician sexual misconduct is likely underreported

The actual incidence of physician-patient sexual misconduct is likely higher as a result of underreporting, according to the researchers.

Because a substantial power differential exists between patients and their physicians, the researchers noted, it follows that patient victims, like other sexual assault victims, may be unwilling or unable to report the incident in question.

Many violations involving physician sexual misconduct of patients never came to the attention of state regulators, according to the Journal-Constitution investigation. Reporting showed that hospitals, clinics, and fellow doctors fail to report sexual misconduct to regulators, despite laws in most states requiring them to do so.
 

Media investigations highlight medical board shortcomings

Public pressure on the California Medical Board increased after the Los Angeles Times investigated what happened to doctors who surrendered or had their licenses revoked after being reported for sexual abuse with patients. The Times revealed in 2021 that the board reinstated 10 of 17 doctors who petitioned for reinstatement.

They include Esmail Nadjmabadi, MD, of Bakersfield, Calif., who had sexually abused six female patients, including one in her mid-teens. The Times reported that, in 2009, he pleaded no contest to a criminal charge that he sexually exploited two or more women and surrendered his medical license the following year.

Five years later, Dr. Nadjmabadi petitioned the medical board to be reinstated and the board approved his request.

The California board has also reinstated several doctors who underwent sex offender rehabilitation. Board members rely heavily on a doctor’s evidence of rehabilitation, usually with the testimony of therapists hired by the doctor, and no input from the patients who were harmed, according to the Times’ investigation.

High-profile sexual misconduct or abuse cases involving Larry Nassar, MD, and Robert Anderson, MD, in Michigan; Richard Strauss, MD, in Ohio; and Ricardo Cruciani, MD, in New York, added to the mounting criticism that medical boards were too lenient in their handling of complaints of sexual misconduct.
 

Another state tackles sexual misconduct

Ohio’s medical board created an administrative rule stating that licensed physicians have a legal and ethical duty to report colleagues for sexual misconduct with patients and to complete a 1-hour CME training. Failure to report sexual misconduct complaints can lead to a doctor being permanently stripped of his license.

This happened to Robert S. Geiger, MD, in 2016 after not reporting his colleague James Bressi, MD, to the medical board after receiving complaints that Dr. Bressi was sexually abusing female patients at their pain clinic.

Dr. Bressi was convicted of sexual misconduct with a patient, stripped of his medical license, and sentenced to 59 days in prison. 

“I think all of these reforms are a step in the right direction and will help to deter doctors from committing sexual misconduct to some extent,” said California activist Marian Hollingsworth, cofounder of the Patient Safety League.

But there’s room for improvement, she said, since “most states fall short in not requiring medical boards to notify law enforcement when they get a complaint of doctor sexual misconduct so the public can be aware of it.”

A version of this article first appeared on Medscape.com.

A new California law ensures that doctors found to have engaged in sexual misconduct with patients will never again practice medicine in the state.

It’s the latest example of states taking doctor sexual misconduct more seriously after longstanding criticism that medical boards have been too lenient.

The law, which takes effect in January 2023, requires the state’s medical board to permanently revoke these doctors’ licenses instead of allowing them to petition the board for reinstatement after 3 years.

“Physician licenses should not be reinstated after egregious sexual misconduct with patients. The doctor-patient relationship has to remain sacrosanct and trusted,” said Peter Yellowlees, MD, a professor of psychiatry at the University of California, Davis.

Although the vast majority of the nation’s estimated 1 million doctors don’t sexually abuse patients, the problem is a national one.

The Federation of State Medical Boards defines sexual misconduct as the exploitation of the physician-patient relationship in a sexual way. The exploitation may be verbal or physical and can occur in person or virtually.

The FSMB conducted a 2-year review of how medical boards handled cases of sexual misconduct, issuing a report in 2020 that contained 38 recommended actions.

Four states in addition to California have enacted laws that incorporate some FSMB recommendations. These include revoking doctors’ licenses after a single egregious act of sexual misconduct (including sexual assault), regardless of whether the physician was charged or convicted; increased reporting by hospitals and doctors of sexual misconduct; and training of physicians to recognize and report sexual misconduct.

The four state laws are:

• Georgia’s HB 458. It was signed into law in May 2021, and it authorizes the medical board to revoke or suspend a license if a physician is found guilty of sexually assaulting a patient in a criminal case. Doctors are required to report other doctors who have sexually abused patients and to take continuing medical education (CME) units on sexual misconduct.
• Florida’s SB 1934. This legislation was signed into law in June 2021, and it bars physicians charged with serious crimes such as sexual assault, sexual misconduct against patients, or possession of child pornography from seeing patients until those charges are resolved by the legal system.
• West Virginia’s SB 603. Signed into law in March 2022 it prohibits the medical board from issuing a license to a physician who engaged in sexual activity or misconduct with a patient whose license was revoked in another state or was involved in other violations.
• Tennessee HB 1045. It was signed into law in May 2021, and authorizes the medical board, upon learning of an indictment against a physician for a controlled substance violation or sexual offense, to immediately suspend the doctor’s ability to prescribe controlled substances until the doctor’s case is resolved.

A published study identified a total of 1,721 reports of physician sexual misconduct that were submitted to the National Practitioner Data Bank between 2000 and 2019. The annual incidence of sexual misconduct reports averaged 10.8 per 100,000 U.S. physician licensees, said the researchers.

In a groundbreaking 2016 investigation, the Atlanta Journal-Constitution reviewed thousands of documents and found more than 2,400 doctors whose sexual misconduct cases clearly involved patients since 1999.
 

Physician sexual misconduct is likely underreported

The actual incidence of physician-patient sexual misconduct is likely higher as a result of underreporting, according to the researchers.

Because a substantial power differential exists between patients and their physicians, the researchers noted, it follows that patient victims, like other sexual assault victims, may be unwilling or unable to report the incident in question.

Many violations involving physician sexual misconduct of patients never came to the attention of state regulators, according to the Journal-Constitution investigation. Reporting showed that hospitals, clinics, and fellow doctors fail to report sexual misconduct to regulators, despite laws in most states requiring them to do so.
 

Media investigations highlight medical board shortcomings

Public pressure on the California Medical Board increased after the Los Angeles Times investigated what happened to doctors who surrendered or had their licenses revoked after being reported for sexual abuse with patients. The Times revealed in 2021 that the board reinstated 10 of 17 doctors who petitioned for reinstatement.

They include Esmail Nadjmabadi, MD, of Bakersfield, Calif., who had sexually abused six female patients, including one in her mid-teens. The Times reported that, in 2009, he pleaded no contest to a criminal charge that he sexually exploited two or more women and surrendered his medical license the following year.

Five years later, Dr. Nadjmabadi petitioned the medical board to be reinstated and the board approved his request.

The California board has also reinstated several doctors who underwent sex offender rehabilitation. Board members rely heavily on a doctor’s evidence of rehabilitation, usually with the testimony of therapists hired by the doctor, and no input from the patients who were harmed, according to the Times’ investigation.

High-profile sexual misconduct or abuse cases involving Larry Nassar, MD, and Robert Anderson, MD, in Michigan; Richard Strauss, MD, in Ohio; and Ricardo Cruciani, MD, in New York, added to the mounting criticism that medical boards were too lenient in their handling of complaints of sexual misconduct.
 

Another state tackles sexual misconduct

Ohio’s medical board created an administrative rule stating that licensed physicians have a legal and ethical duty to report colleagues for sexual misconduct with patients and to complete a 1-hour CME training. Failure to report sexual misconduct complaints can lead to a doctor being permanently stripped of his license.

This happened to Robert S. Geiger, MD, in 2016 after not reporting his colleague James Bressi, MD, to the medical board after receiving complaints that Dr. Bressi was sexually abusing female patients at their pain clinic.

Dr. Bressi was convicted of sexual misconduct with a patient, stripped of his medical license, and sentenced to 59 days in prison. 

“I think all of these reforms are a step in the right direction and will help to deter doctors from committing sexual misconduct to some extent,” said California activist Marian Hollingsworth, cofounder of the Patient Safety League.

But there’s room for improvement, she said, since “most states fall short in not requiring medical boards to notify law enforcement when they get a complaint of doctor sexual misconduct so the public can be aware of it.”

A version of this article first appeared on Medscape.com.

A new California law ensures that doctors found to have engaged in sexual misconduct with patients will never again practice medicine in the state.

It’s the latest example of states taking doctor sexual misconduct more seriously after longstanding criticism that medical boards have been too lenient.

The law, which takes effect in January 2023, requires the state’s medical board to permanently revoke these doctors’ licenses instead of allowing them to petition the board for reinstatement after 3 years.

“Physician licenses should not be reinstated after egregious sexual misconduct with patients. The doctor-patient relationship has to remain sacrosanct and trusted,” said Peter Yellowlees, MD, a professor of psychiatry at the University of California, Davis.

Although the vast majority of the nation’s estimated 1 million doctors don’t sexually abuse patients, the problem is a national one.

The Federation of State Medical Boards defines sexual misconduct as the exploitation of the physician-patient relationship in a sexual way. The exploitation may be verbal or physical and can occur in person or virtually.

The FSMB conducted a 2-year review of how medical boards handled cases of sexual misconduct, issuing a report in 2020 that contained 38 recommended actions.

Four states in addition to California have enacted laws that incorporate some FSMB recommendations. These include revoking doctors’ licenses after a single egregious act of sexual misconduct (including sexual assault), regardless of whether the physician was charged or convicted; increased reporting by hospitals and doctors of sexual misconduct; and training of physicians to recognize and report sexual misconduct.

The four state laws are:

• Georgia’s HB 458. It was signed into law in May 2021, and it authorizes the medical board to revoke or suspend a license if a physician is found guilty of sexually assaulting a patient in a criminal case. Doctors are required to report other doctors who have sexually abused patients and to take continuing medical education (CME) units on sexual misconduct.
• Florida’s SB 1934. This legislation was signed into law in June 2021, and it bars physicians charged with serious crimes such as sexual assault, sexual misconduct against patients, or possession of child pornography from seeing patients until those charges are resolved by the legal system.
• West Virginia’s SB 603. Signed into law in March 2022 it prohibits the medical board from issuing a license to a physician who engaged in sexual activity or misconduct with a patient whose license was revoked in another state or was involved in other violations.
• Tennessee HB 1045. It was signed into law in May 2021, and authorizes the medical board, upon learning of an indictment against a physician for a controlled substance violation or sexual offense, to immediately suspend the doctor’s ability to prescribe controlled substances until the doctor’s case is resolved.

A published study identified a total of 1,721 reports of physician sexual misconduct that were submitted to the National Practitioner Data Bank between 2000 and 2019. The annual incidence of sexual misconduct reports averaged 10.8 per 100,000 U.S. physician licensees, said the researchers.

In a groundbreaking 2016 investigation, the Atlanta Journal-Constitution reviewed thousands of documents and found more than 2,400 doctors whose sexual misconduct cases clearly involved patients since 1999.
 

Physician sexual misconduct is likely underreported

The actual incidence of physician-patient sexual misconduct is likely higher as a result of underreporting, according to the researchers.

Because a substantial power differential exists between patients and their physicians, the researchers noted, it follows that patient victims, like other sexual assault victims, may be unwilling or unable to report the incident in question.

Many violations involving physician sexual misconduct of patients never came to the attention of state regulators, according to the Journal-Constitution investigation. Reporting showed that hospitals, clinics, and fellow doctors fail to report sexual misconduct to regulators, despite laws in most states requiring them to do so.
 

Media investigations highlight medical board shortcomings

Public pressure on the California Medical Board increased after the Los Angeles Times investigated what happened to doctors who surrendered or had their licenses revoked after being reported for sexual abuse with patients. The Times revealed in 2021 that the board reinstated 10 of 17 doctors who petitioned for reinstatement.

They include Esmail Nadjmabadi, MD, of Bakersfield, Calif., who had sexually abused six female patients, including one in her mid-teens. The Times reported that, in 2009, he pleaded no contest to a criminal charge that he sexually exploited two or more women and surrendered his medical license the following year.

Five years later, Dr. Nadjmabadi petitioned the medical board to be reinstated and the board approved his request.

The California board has also reinstated several doctors who underwent sex offender rehabilitation. Board members rely heavily on a doctor’s evidence of rehabilitation, usually with the testimony of therapists hired by the doctor, and no input from the patients who were harmed, according to the Times’ investigation.

High-profile sexual misconduct or abuse cases involving Larry Nassar, MD, and Robert Anderson, MD, in Michigan; Richard Strauss, MD, in Ohio; and Ricardo Cruciani, MD, in New York, added to the mounting criticism that medical boards were too lenient in their handling of complaints of sexual misconduct.
 

Another state tackles sexual misconduct

Ohio’s medical board created an administrative rule stating that licensed physicians have a legal and ethical duty to report colleagues for sexual misconduct with patients and to complete a 1-hour CME training. Failure to report sexual misconduct complaints can lead to a doctor being permanently stripped of his license.

This happened to Robert S. Geiger, MD, in 2016 after not reporting his colleague James Bressi, MD, to the medical board after receiving complaints that Dr. Bressi was sexually abusing female patients at their pain clinic.

Dr. Bressi was convicted of sexual misconduct with a patient, stripped of his medical license, and sentenced to 59 days in prison. 

“I think all of these reforms are a step in the right direction and will help to deter doctors from committing sexual misconduct to some extent,” said California activist Marian Hollingsworth, cofounder of the Patient Safety League.

But there’s room for improvement, she said, since “most states fall short in not requiring medical boards to notify law enforcement when they get a complaint of doctor sexual misconduct so the public can be aware of it.”

A version of this article first appeared on Medscape.com.

A new study reports that slowly lowering weights builds and strengthens muscles almost as well as lifting and lowering them, as you would do with a typical rep.

That means, for example, that you could use two hands to lift a dumbbell, then one hand to slowly lower it, while sacrificing little in the way of results. Focusing on the lowering – or the “eccentric” contraction – can lead to a more efficient gym session, Japanese researchers say.

In the study, published in the European Journal of Applied Physiology, researchers divided people into three groups of 14 for a 5-week, twice-weekly comparison.

One group performed dumbbell curls from full extension to about one-quarter of the way up, for 2 seconds up and 2 seconds down, in three sets of 10 reps. Another 14 people performed only the lift portion of the movement (a researcher helped them reset the weight after each rep), and another 14 did only the lowering part of the move.

The group that both lifted and lowered the weights increased the maximum force they could produce on a lift by 18% and increased the thickness of the biceps muscle by 11%.

The people who only lowered the weights nearly matched that, increasing their maximum force by 14% and muscle size by 10%. The lifting-only group increased their max force by 11%, while muscle size increase was insignificant. 

Your muscle fibers work two ways. When you lift a dumbbell from a straight arm up to your shoulder, your biceps muscle is using a “concentric” contraction. As you lower that dumbbell back down, the biceps muscle is working to put the brakes on the descent – that’s called an “eccentric” contraction. 

The lifting-plus-lowering group saw the biggest gains because they were pretty much doing twice the number of reps. The lowering-only group made similar improvements in strength and muscle with only half the work. 

Study author Masatoshi Nakamura, PhD, a professor at Nishikyushu University, Japan, believes that eccentric muscle contractions produce greater neurological adaptations in the spine and brain than concentric contractions. In other words, your nerves learn to send more of the “pull harder” signal to your muscles. 

At the same time, the spring action of a large protein called “titin” in the muscle fibers produces greater force during eccentric contractions while using less energy, and more titin could account for the increase in muscle size, which is called hypertrophy. 

“Titin in the muscle fibers could be the best explanation for muscle hypertrophy,” Dr. Nakamura says. “However, we believe that other factors, such as neurological adaptations, also play a large role in increasing muscle strength.”

The short range of motion used in the dumbbell curls was an important factor. A study, published in the Journal of Strength and Conditioning Research, found that a partial range-of-motion triceps exercise produced greater muscle growth than full range-of-motion movements. 

Although the people in this newest study only performed dumbbell curls, “we think the effect is similar in other muscles,” Dr. Nakamura says.

Your muscles are much stronger when lowering than they are lifting, so Dr. Nakamura suggests choosing a heavy weight to perform single-arm dumbbell curls. Use both arms to raise the dumbbell into the 50-degree position, then lower it over a 2-second count. For two-handed bent- or straight-bar curls, you can ask a spotter to help you lift the weights into position between slow lowering moves. 

You can also try the same trick with leg curl or leg extension exercise machines, using two legs to lift the weight and allowing one leg to lower it.

In the near future, your gym might contain more equipment that was designed specifically around lowering movements.

“Other machines that can emphasize eccentric contraction are gradually being developed,” Dr. Nakamura says.

A version of this article first appeared on WebMD.com.

A new study reports that slowly lowering weights builds and strengthens muscles almost as well as lifting and lowering them, as you would do with a typical rep.

That means, for example, that you could use two hands to lift a dumbbell, then one hand to slowly lower it, while sacrificing little in the way of results. Focusing on the lowering – or the “eccentric” contraction – can lead to a more efficient gym session, Japanese researchers say.

In the study, published in the European Journal of Applied Physiology, researchers divided people into three groups of 14 for a 5-week, twice-weekly comparison.

One group performed dumbbell curls from full extension to about one-quarter of the way up, for 2 seconds up and 2 seconds down, in three sets of 10 reps. Another 14 people performed only the lift portion of the movement (a researcher helped them reset the weight after each rep), and another 14 did only the lowering part of the move.

The group that both lifted and lowered the weights increased the maximum force they could produce on a lift by 18% and increased the thickness of the biceps muscle by 11%.

The people who only lowered the weights nearly matched that, increasing their maximum force by 14% and muscle size by 10%. The lifting-only group increased their max force by 11%, while muscle size increase was insignificant. 

Your muscle fibers work two ways. When you lift a dumbbell from a straight arm up to your shoulder, your biceps muscle is using a “concentric” contraction. As you lower that dumbbell back down, the biceps muscle is working to put the brakes on the descent – that’s called an “eccentric” contraction. 

The lifting-plus-lowering group saw the biggest gains because they were pretty much doing twice the number of reps. The lowering-only group made similar improvements in strength and muscle with only half the work. 

Study author Masatoshi Nakamura, PhD, a professor at Nishikyushu University, Japan, believes that eccentric muscle contractions produce greater neurological adaptations in the spine and brain than concentric contractions. In other words, your nerves learn to send more of the “pull harder” signal to your muscles. 

At the same time, the spring action of a large protein called “titin” in the muscle fibers produces greater force during eccentric contractions while using less energy, and more titin could account for the increase in muscle size, which is called hypertrophy. 

“Titin in the muscle fibers could be the best explanation for muscle hypertrophy,” Dr. Nakamura says. “However, we believe that other factors, such as neurological adaptations, also play a large role in increasing muscle strength.”

The short range of motion used in the dumbbell curls was an important factor. A study, published in the Journal of Strength and Conditioning Research, found that a partial range-of-motion triceps exercise produced greater muscle growth than full range-of-motion movements. 

Although the people in this newest study only performed dumbbell curls, “we think the effect is similar in other muscles,” Dr. Nakamura says.

Your muscles are much stronger when lowering than they are lifting, so Dr. Nakamura suggests choosing a heavy weight to perform single-arm dumbbell curls. Use both arms to raise the dumbbell into the 50-degree position, then lower it over a 2-second count. For two-handed bent- or straight-bar curls, you can ask a spotter to help you lift the weights into position between slow lowering moves. 

You can also try the same trick with leg curl or leg extension exercise machines, using two legs to lift the weight and allowing one leg to lower it.

In the near future, your gym might contain more equipment that was designed specifically around lowering movements.

“Other machines that can emphasize eccentric contraction are gradually being developed,” Dr. Nakamura says.

A version of this article first appeared on WebMD.com.

A new study reports that slowly lowering weights builds and strengthens muscles almost as well as lifting and lowering them, as you would do with a typical rep.

That means, for example, that you could use two hands to lift a dumbbell, then one hand to slowly lower it, while sacrificing little in the way of results. Focusing on the lowering – or the “eccentric” contraction – can lead to a more efficient gym session, Japanese researchers say.

In the study, published in the European Journal of Applied Physiology, researchers divided people into three groups of 14 for a 5-week, twice-weekly comparison.

One group performed dumbbell curls from full extension to about one-quarter of the way up, for 2 seconds up and 2 seconds down, in three sets of 10 reps. Another 14 people performed only the lift portion of the movement (a researcher helped them reset the weight after each rep), and another 14 did only the lowering part of the move.

The group that both lifted and lowered the weights increased the maximum force they could produce on a lift by 18% and increased the thickness of the biceps muscle by 11%.

The people who only lowered the weights nearly matched that, increasing their maximum force by 14% and muscle size by 10%. The lifting-only group increased their max force by 11%, while muscle size increase was insignificant. 

Your muscle fibers work two ways. When you lift a dumbbell from a straight arm up to your shoulder, your biceps muscle is using a “concentric” contraction. As you lower that dumbbell back down, the biceps muscle is working to put the brakes on the descent – that’s called an “eccentric” contraction. 

The lifting-plus-lowering group saw the biggest gains because they were pretty much doing twice the number of reps. The lowering-only group made similar improvements in strength and muscle with only half the work. 

Study author Masatoshi Nakamura, PhD, a professor at Nishikyushu University, Japan, believes that eccentric muscle contractions produce greater neurological adaptations in the spine and brain than concentric contractions. In other words, your nerves learn to send more of the “pull harder” signal to your muscles. 

At the same time, the spring action of a large protein called “titin” in the muscle fibers produces greater force during eccentric contractions while using less energy, and more titin could account for the increase in muscle size, which is called hypertrophy. 

“Titin in the muscle fibers could be the best explanation for muscle hypertrophy,” Dr. Nakamura says. “However, we believe that other factors, such as neurological adaptations, also play a large role in increasing muscle strength.”

The short range of motion used in the dumbbell curls was an important factor. A study, published in the Journal of Strength and Conditioning Research, found that a partial range-of-motion triceps exercise produced greater muscle growth than full range-of-motion movements. 

Although the people in this newest study only performed dumbbell curls, “we think the effect is similar in other muscles,” Dr. Nakamura says.

Your muscles are much stronger when lowering than they are lifting, so Dr. Nakamura suggests choosing a heavy weight to perform single-arm dumbbell curls. Use both arms to raise the dumbbell into the 50-degree position, then lower it over a 2-second count. For two-handed bent- or straight-bar curls, you can ask a spotter to help you lift the weights into position between slow lowering moves. 

You can also try the same trick with leg curl or leg extension exercise machines, using two legs to lift the weight and allowing one leg to lower it.

In the near future, your gym might contain more equipment that was designed specifically around lowering movements.

“Other machines that can emphasize eccentric contraction are gradually being developed,” Dr. Nakamura says.

A version of this article first appeared on WebMD.com.

COVID-19 has lifted the lid on the risks of secondary pulmonary fungal infections in patients with severe respiratory viral illness – even previously immunocompetent individuals – and highlighted the importance of vigilant investigation to achieve early diagnoses, leading experts say.

Kathryn Kon/Science Photo Library/Getty Images

Most fungi are not under surveillance in the United States, leaving experts without a national picture of the true burden of infection through the pandemic. However, a collection of published case series, cohort studies, and reviews from Europe, the United States, and throughout the world – mainly pre-Omicron – show that fungal disease has affected a significant portion of critically ill patients with COVID-19, with concerning excess mortality, these experts say.

COVID-associated pulmonary aspergillosis (CAPA) has been the predominant fungal coinfection in the United States and internationally. But COVID-associated mucormycosis (CAM) – the infection that surged in India in early 2021 – has also affected some patients in the United States, published data show. So have Pneumocystitis pneumonia, cryptococcosis, histoplasmosis, and Candida infections (which mainly affect the bloodstream and abdomen), say the experts who were interviewed.

“We had predicted [a rise in] aspergillosis, but we saw more than we thought we’d see. Most fungal infections became more common with COVID-19,” said George Thompson, MD, professor of clinical medicine at the University of California, Davis, and cochair of the University of Alabama–based Mycoses Study Group Education Committee, a group of experts in medical mycology. Pneumocystitis, for instance, “has historically been associated with AIDS or different types of leukemia or lymphoma, and is not an infection we’ve typically seen in our otherwise healthy ICU patients,” he noted. “But we did see more of it [with COVID-19].”

More recently, with fewer patients during the Omicron phase in intensive care units with acute respiratory failure, the profile of fungal disease secondary to COVID-19 has changed. Increasing proportions of patients have traditional risk factors for aspergillosis, such as hematologic malignancies and longer-term, pre-COVID use of systemic corticosteroids – a change that makes the contribution of the viral illness harder to distinguish.

Moving forward, the lessons of the COVID era – the fungal risks to patients with serious viral infections and the persistence needed to diagnose aspergillosis and other pulmonary fungal infections using bronchoscopy and imperfect noninvasive tests – should be taken to heart, experts say.

“Fungal diseases are not rare. They’re just not diagnosed because no one thinks to look for them,” said Dr. Thompson, a contributor to a recently released World Health Organization report naming a “fungal priority pathogens” list.

“We’re going to continue to see [secondary fungal infections] with other respiratory viruses,” he said. And overall, given environmental and other changes, “we’re going to see more and more fungal disease in the patients we take care of.”


 

CAPA not a surprise

CAPA is “not an unfamiliar story” in the world of fungal disease, given a history of influenza-associated pulmonary aspergillosis (IAPA), said Kieren A. Marr, MD, MBA, adjunct professor of medicine and past director of the transplant and oncology infectious diseases program at Johns Hopkins University, Baltimore, who has long researched invasive fungal disease.

European researchers, she said, have led the way in describing a high incidence of IAPA in patients admitted to ICUs with influenza. In a retrospective multicenter cohort study reported in 2018 by the Dutch-Belgian Mycosis Study group, for instance, almost 20% of 432 influenza patients admitted to the ICU, including patients who were otherwise healthy and not immunocompromised, had the diagnosis a median of 3 days after ICU admission. (Across other cohort studies, rates of IAPA have ranged from 7% to 30%.)

Mortality was significant: 51% of patients with influenza and invasive pulmonary aspergillosis died within 90 days, compared with 28% of patients with influenza and no invasive pulmonary aspergillosis.

Reports from Europe early in the pandemic indicated that CAPA was a similarly serious problem, prompting establishment at Johns Hopkins University of an aggressive screening program utilizing biomarker-based testing of blood and bronchoalveolar lavage (BAL) fluid. Of 396 mechanically ventilated COVID-19 patients admitted to Johns Hopkins University hospitals between March and August 2020, 39 met the institution’s criteria for CAPA, Dr. Marr and her colleagues reported this year in what might be the largest U.S. cohort study of CAPA published to date.

“We now know definitively that people with severe influenza and with severe COVID also have high risks for both invasive and airway disease caused by airborne fungi, most commonly aspergilliosis,” Dr. Marr said.

More recent unpublished analyses of patients from the start of the pandemic to June 2021 show persistent risk, said Nitipong Permpalung, MD, MPH, assistant professor in transplant and oncology infectious diseases at Johns Hopkins University and lead author of the cohort study. Among 832 patients with COVID-19 who were mechanically ventilated in Johns Hopkins University hospitals, 11.8% had CAPA, he said. (Also, 3.2% had invasive candidiasis, and 1.1% had other invasive fungal infections.)

Other sources said in interviews that these CAPA prevalence rates generally mirror reports from Europe, though some investigators in Europe have reported CAPA rates more toward 15%.

(The Mycoses Study Group recently collected data from its consortium of U.S. medical centers on the prevalence of CAPA, with funding support from the CDC, but at press time the data had not yet been released. Dr. Thompson said he suspected the prevalence will be lower than earlier papers have suggested, “but still will reflect a significant burden of disease.”)

Patients in the published Johns Hopkins University study who had CAPA were more likely than those with COVID-19 but no CAPA to have underlying pulmonary disease, liver disease, coagulopathy, solid tumors, multiple myeloma, and COVID-19–directed corticosteroids. And they had uniformly worse outcomes with regards to severity of illness and length of intubation.

How much of CAPA is driven by the SARS-CoV-2 virus itself and how much is a consequence of COVID-19 treatments is a topic of active discussion and research. Martin Hoenigl, MD, of the University of Graz, Austria, a leading researcher in medical mycology, said research shows corticosteroids and anti–IL-6 treatments, such as tocilizumab, used to treat COVID-19–driven acute respiratory failure clearly have contributed to CAPA. But he contends that “a number of other mechanisms” are involved as well.

“The immunologic mechanisms are definitely different in these patients with viral illness than in other ICU patients [who develop aspergilliosis]. It’s not just the corticosteroids. The more we learn, we see the virus plays a role as well, suppressing the interferon pathway,” for example, said Dr. Hoenigl, associate professor in the division of infectious diseases and the European Confederation of Medical Mycology (ECMM) Center of Excellence at the university. The earliest reports of CAPA came “when ICUs weren’t using dexamethasone or tocilizumab,” he noted.

In a paper published recently in Lancet Respiratory Medicine that Dr. Hoenigl and others point to, Belgian researchers reported a “three-level breach” in innate antifungal immunity in both IAPA and CAPA, affecting the integrity of the epithelial barrier, the capacity to phagocytose and kill Aspergillus spores, and the ability to destroy Aspergillus hyphae, which is mainly mediated by neutrophils.

The researchers ran a host of genetic and protein analyses on lung samples (most collected via BAL) of 169 patients with influenza or COVID-19, with and without aspergillosis. They found that patients with CAPA had significantly lower neutrophil cell fractions than patients with COVID-19 only, and patients with IAPA or CAPA had reduced type II IFN signaling and increased concentrations of fibrosis-associated growth factors in the lower respiratory tracts (Lancet Respir Med. 2022 Aug 24).

Tom Chiller, MD, MPH, chief of the Center for Disease Control and Prevention’s Mycotic Disease Branch, said he’s watching such research with interest. For now, he said, it’s important to also consider that “data on COVID show that almost all patients going into the ICUs with pneumonia and COVID are getting broad-spectrum antibiotics” in addition to corticosteroids.

By wiping out good bacteria, the antibiotics could be “creating a perfect niche for fungi to grow,” he said.


 

Diagnostic challenges

Aspergillus that has invaded the lung tissue in patients with COVID-19 appears to grow there for some time – around 8-10 days, much longer than in IAPA – before becoming angioinvasive, said Dr. Hoenigl. Such a pathophysiology “implicates that we should try to diagnose it while it’s in the lung tissue, using the BAL fluid, and not yet in the blood,” he said.

Some multicenter studies, including one from Europe on Aspergillus test profiles in critically ill COVID-19 patients, have shown mortality rates of close to 90% in patients with CAPA who have positive serum biomarkers, despite appropriate antifungal therapy. “If diagnosed while confined to the lung, however, mortality rates are more like 40%-50% with antifungal therapy,” Dr. Hoenigl said. (Cohort studies published thus far have fairly consistently reported mortality rates in patients with CAPA greater than 40%, he said.)

Bronchoscopy isn’t always pragmatic or possible, however, and is variably used. Some patients with severe COVID-19 may be too unstable for any invasive procedure, said Dr. Permpalung.

Dr. Permpalung looks for CAPA using serum (1-3) beta-D-glucan (BDG, a generic fungal test not specific to Aspergillus), serum galactomannan (GM, specific for Aspergillus), and respiratory cultures (sputum or endotracheal aspirate if intubated) as initial screening tests in the ICU. If there are concerns for CAPA – based on these tests and/or the clinical picture – “a thoughtful risk-benefit discussion is required to determine if patients would benefit from a bronchoscopy or if we should just start them on empiric antifungal therapy.”

Unfortunately, the sensitivity of serum GM is relatively low in CAPA – lower than with classic invasive aspergillosis in the nonviral setting, sources said. BDG, on the other hand, can be falsely positive in the setting of antimicrobials and within the ICU. And the utility of imaging for CAPA is limited. Both the clinical picture and radiological findings of CAPA have resembled those of severe COVID – with the caveat of cavitary lung lesions visible on imaging.

“Cavities or nodules are a highly suspicious finding that could indicate possible fungal infection,” said pulmonologist Amir A. Zeki, MD, MAS, professor of medicine at the University of California, Davis, and codirector of the UC Davis Asthma Network Clinic, who has cared for patients with CAPA.

Cavitation has been described in only a proportion of patients with CAPA, however. So in patients not doing well, “your suspicion has to be raised if you’re not seeing cavities,” he said.

Early in the pandemic, when patients worsened or failed to progress on mechanical ventilation, clinicians at the University of California, Davis, quickly learned not to pin blame too quickly on COVID-19 alone. This remains good advice today, Dr. Zeki said.

“If you have a patient who’s not doing well on a ventilator, not getting better [over weeks], has to be reintubated, has infiltrates or lung nodules that are evolving, or certainly, if they have a cavity, you have to suspect fungal infection,” said Dr. Zeki, who also practices at the Veterans Affairs Medical Center in San Diego. “Think about it for those patients who just aren’t moving forward and are continuing to struggle. Have a high index of suspicion, and consult with your infectious disease colleagues.”

Empiric treatment is warranted in some cases if a patient is doing poorly and suspicion for fungal infection is high based on clinical, radiographic, and/or laboratory evidence, he said.

The CDC’s Dr. Chiller said that screening and diagnostic algorithms currently vary from institution to institution, and that diagnostic challenges likely dissuade clinicians from thinking about fungi. “Clinicians often don’t want to deal with fungi – they’re difficult to diagnose, the treatments are limited and can be toxic. But fungi get pushed back until it’s too late,” he said.

“Fungal diagnostics is an area we all need a lot more help with,” and new diagnostics are in the pipeline, he said. In the meantime, he said, “there are tools out there, and we just need to use them more, and improve how they’re used.”

While reported CAPA thus far has typically occurred in the setting of ICU care and mechanical ventilation, it’s not always the case, Dr. Permpalung said. Lung and other solid organ transplant (SOT) recipients with COVID-19 are developing CAPA and other invasive secondary invasive fungal infections despite not being intubated, he said.

Of 276 SOT recipients with COVID-19 who required inpatient treatment at Johns Hopkins University hospitals from the beginning of the pandemic to March 2022, 23 patients developed invasive fungal infections (13 CAPA). Only a fraction – 38 of the 276 – had been intubated, he said.
 

Mucormycosis resistance

After CAPA, candidiasis and COVID-19-associated mucormycosis (CAM) – most frequently, rhino-orbital-cerebral disease or pulmonary disease – have been the leading reported fungal coinfections in COVID-19, said Dr. Hoenigl, who described the incidence, timeline, risk factors, and pathogenesis of these infections in a review published this year in Nature Microbiology. .

In India, where there has long been high exposure to Mucorales spores and a greater burden of invasive fungal disease, the rate of mucormycosis doubled in 2021, with rhino-orbital-cerebral disease reported almost exclusively, he said. Pulmonary disease has occurred almost exclusively in the ICU setting and has been present in about 50% of cases outside of India, including Europe and the United States.

A preprint meta-analysis of CAM cases posted by the Lancet in July 2022, in which investigators analyzed individual data of 556 reported cases of COVID-19–associated CAM, shows diabetes and history of corticosteroid use present in most patients, and an overall mortality rate of 44.4%, most of which stems from cases of pulmonary or disseminated disease. Thirteen of the 556 reported cases were from the United States.

An important take-away from the analysis, Dr. Hoenigl said, is that Aspergillus coinfection was seen in 7% of patients and was associated with higher mortality. “It’s important to consider that coinfections [of Aspergillus and Mucorales] can exist,” Dr. Hoenigl said, noting that like CAPA, pulmonary CAM is likely underdiagnosed and underreported.

As with CAPA, the clinical and radiological features of pulmonary CAM largely overlap with those associated with COVID-19, and bronchoscopy plays a central role in definitive diagnosis. In the United States, a Mucorales PCR test for blood and BAL fluid is commercially available and used at some centers, Dr. Hoenigl said.

“Mucormycosis is always difficult to treat ... a lot of the treatments don’t work particularly well,” said Dr. Thompson. “With aspergillosis, we have better treatment options.”

Dr. Thompson worries, however, about treatment resistance becoming widespread. Resistance to azole antifungal agents “is already pretty widespread in northern Europe, particularly in the Netherlands and part of the U.K.” because of injudicious use of antifungals in agriculture, he said. “We’ve started to see a few cases [of azole-resistant aspergillosis in the United States] and know it will be more widespread soon.”

Treatment resistance is a focus of the new WHO fungal priority pathogens list – the first such report from the organization. Of the 19 fungi on the list, 4 were ranked as critical: Cryptococcus neoformans, Candida auris, Aspergillus fumigatus, and Candida albicans. Like Dr. Thompson, Dr. Hoenigl contributed to the WHO report.

Dr. Hoenigl reported grant/research support from Astellas, Merck, F2G, Gilread, Pfizer, and Scynexis. Dr. Marr disclosed employment and equity in Pearl Diagnostics and Sfunga Therapeutics. Dr. Thompson, Dr. Permpalung, and Dr. Zeki reported that they have no relevant financial disclosures.
 

COVID-19 has lifted the lid on the risks of secondary pulmonary fungal infections in patients with severe respiratory viral illness – even previously immunocompetent individuals – and highlighted the importance of vigilant investigation to achieve early diagnoses, leading experts say.

Kathryn Kon/Science Photo Library/Getty Images

Most fungi are not under surveillance in the United States, leaving experts without a national picture of the true burden of infection through the pandemic. However, a collection of published case series, cohort studies, and reviews from Europe, the United States, and throughout the world – mainly pre-Omicron – show that fungal disease has affected a significant portion of critically ill patients with COVID-19, with concerning excess mortality, these experts say.

COVID-associated pulmonary aspergillosis (CAPA) has been the predominant fungal coinfection in the United States and internationally. But COVID-associated mucormycosis (CAM) – the infection that surged in India in early 2021 – has also affected some patients in the United States, published data show. So have Pneumocystitis pneumonia, cryptococcosis, histoplasmosis, and Candida infections (which mainly affect the bloodstream and abdomen), say the experts who were interviewed.

“We had predicted [a rise in] aspergillosis, but we saw more than we thought we’d see. Most fungal infections became more common with COVID-19,” said George Thompson, MD, professor of clinical medicine at the University of California, Davis, and cochair of the University of Alabama–based Mycoses Study Group Education Committee, a group of experts in medical mycology. Pneumocystitis, for instance, “has historically been associated with AIDS or different types of leukemia or lymphoma, and is not an infection we’ve typically seen in our otherwise healthy ICU patients,” he noted. “But we did see more of it [with COVID-19].”

More recently, with fewer patients during the Omicron phase in intensive care units with acute respiratory failure, the profile of fungal disease secondary to COVID-19 has changed. Increasing proportions of patients have traditional risk factors for aspergillosis, such as hematologic malignancies and longer-term, pre-COVID use of systemic corticosteroids – a change that makes the contribution of the viral illness harder to distinguish.

Moving forward, the lessons of the COVID era – the fungal risks to patients with serious viral infections and the persistence needed to diagnose aspergillosis and other pulmonary fungal infections using bronchoscopy and imperfect noninvasive tests – should be taken to heart, experts say.

“Fungal diseases are not rare. They’re just not diagnosed because no one thinks to look for them,” said Dr. Thompson, a contributor to a recently released World Health Organization report naming a “fungal priority pathogens” list.

“We’re going to continue to see [secondary fungal infections] with other respiratory viruses,” he said. And overall, given environmental and other changes, “we’re going to see more and more fungal disease in the patients we take care of.”


 

CAPA not a surprise

CAPA is “not an unfamiliar story” in the world of fungal disease, given a history of influenza-associated pulmonary aspergillosis (IAPA), said Kieren A. Marr, MD, MBA, adjunct professor of medicine and past director of the transplant and oncology infectious diseases program at Johns Hopkins University, Baltimore, who has long researched invasive fungal disease.

European researchers, she said, have led the way in describing a high incidence of IAPA in patients admitted to ICUs with influenza. In a retrospective multicenter cohort study reported in 2018 by the Dutch-Belgian Mycosis Study group, for instance, almost 20% of 432 influenza patients admitted to the ICU, including patients who were otherwise healthy and not immunocompromised, had the diagnosis a median of 3 days after ICU admission. (Across other cohort studies, rates of IAPA have ranged from 7% to 30%.)

Mortality was significant: 51% of patients with influenza and invasive pulmonary aspergillosis died within 90 days, compared with 28% of patients with influenza and no invasive pulmonary aspergillosis.

Reports from Europe early in the pandemic indicated that CAPA was a similarly serious problem, prompting establishment at Johns Hopkins University of an aggressive screening program utilizing biomarker-based testing of blood and bronchoalveolar lavage (BAL) fluid. Of 396 mechanically ventilated COVID-19 patients admitted to Johns Hopkins University hospitals between March and August 2020, 39 met the institution’s criteria for CAPA, Dr. Marr and her colleagues reported this year in what might be the largest U.S. cohort study of CAPA published to date.

“We now know definitively that people with severe influenza and with severe COVID also have high risks for both invasive and airway disease caused by airborne fungi, most commonly aspergilliosis,” Dr. Marr said.

More recent unpublished analyses of patients from the start of the pandemic to June 2021 show persistent risk, said Nitipong Permpalung, MD, MPH, assistant professor in transplant and oncology infectious diseases at Johns Hopkins University and lead author of the cohort study. Among 832 patients with COVID-19 who were mechanically ventilated in Johns Hopkins University hospitals, 11.8% had CAPA, he said. (Also, 3.2% had invasive candidiasis, and 1.1% had other invasive fungal infections.)

Other sources said in interviews that these CAPA prevalence rates generally mirror reports from Europe, though some investigators in Europe have reported CAPA rates more toward 15%.

(The Mycoses Study Group recently collected data from its consortium of U.S. medical centers on the prevalence of CAPA, with funding support from the CDC, but at press time the data had not yet been released. Dr. Thompson said he suspected the prevalence will be lower than earlier papers have suggested, “but still will reflect a significant burden of disease.”)

Patients in the published Johns Hopkins University study who had CAPA were more likely than those with COVID-19 but no CAPA to have underlying pulmonary disease, liver disease, coagulopathy, solid tumors, multiple myeloma, and COVID-19–directed corticosteroids. And they had uniformly worse outcomes with regards to severity of illness and length of intubation.

How much of CAPA is driven by the SARS-CoV-2 virus itself and how much is a consequence of COVID-19 treatments is a topic of active discussion and research. Martin Hoenigl, MD, of the University of Graz, Austria, a leading researcher in medical mycology, said research shows corticosteroids and anti–IL-6 treatments, such as tocilizumab, used to treat COVID-19–driven acute respiratory failure clearly have contributed to CAPA. But he contends that “a number of other mechanisms” are involved as well.

“The immunologic mechanisms are definitely different in these patients with viral illness than in other ICU patients [who develop aspergilliosis]. It’s not just the corticosteroids. The more we learn, we see the virus plays a role as well, suppressing the interferon pathway,” for example, said Dr. Hoenigl, associate professor in the division of infectious diseases and the European Confederation of Medical Mycology (ECMM) Center of Excellence at the university. The earliest reports of CAPA came “when ICUs weren’t using dexamethasone or tocilizumab,” he noted.

In a paper published recently in Lancet Respiratory Medicine that Dr. Hoenigl and others point to, Belgian researchers reported a “three-level breach” in innate antifungal immunity in both IAPA and CAPA, affecting the integrity of the epithelial barrier, the capacity to phagocytose and kill Aspergillus spores, and the ability to destroy Aspergillus hyphae, which is mainly mediated by neutrophils.

The researchers ran a host of genetic and protein analyses on lung samples (most collected via BAL) of 169 patients with influenza or COVID-19, with and without aspergillosis. They found that patients with CAPA had significantly lower neutrophil cell fractions than patients with COVID-19 only, and patients with IAPA or CAPA had reduced type II IFN signaling and increased concentrations of fibrosis-associated growth factors in the lower respiratory tracts (Lancet Respir Med. 2022 Aug 24).

Tom Chiller, MD, MPH, chief of the Center for Disease Control and Prevention’s Mycotic Disease Branch, said he’s watching such research with interest. For now, he said, it’s important to also consider that “data on COVID show that almost all patients going into the ICUs with pneumonia and COVID are getting broad-spectrum antibiotics” in addition to corticosteroids.

By wiping out good bacteria, the antibiotics could be “creating a perfect niche for fungi to grow,” he said.


 

Diagnostic challenges

Aspergillus that has invaded the lung tissue in patients with COVID-19 appears to grow there for some time – around 8-10 days, much longer than in IAPA – before becoming angioinvasive, said Dr. Hoenigl. Such a pathophysiology “implicates that we should try to diagnose it while it’s in the lung tissue, using the BAL fluid, and not yet in the blood,” he said.

Some multicenter studies, including one from Europe on Aspergillus test profiles in critically ill COVID-19 patients, have shown mortality rates of close to 90% in patients with CAPA who have positive serum biomarkers, despite appropriate antifungal therapy. “If diagnosed while confined to the lung, however, mortality rates are more like 40%-50% with antifungal therapy,” Dr. Hoenigl said. (Cohort studies published thus far have fairly consistently reported mortality rates in patients with CAPA greater than 40%, he said.)

Bronchoscopy isn’t always pragmatic or possible, however, and is variably used. Some patients with severe COVID-19 may be too unstable for any invasive procedure, said Dr. Permpalung.

Dr. Permpalung looks for CAPA using serum (1-3) beta-D-glucan (BDG, a generic fungal test not specific to Aspergillus), serum galactomannan (GM, specific for Aspergillus), and respiratory cultures (sputum or endotracheal aspirate if intubated) as initial screening tests in the ICU. If there are concerns for CAPA – based on these tests and/or the clinical picture – “a thoughtful risk-benefit discussion is required to determine if patients would benefit from a bronchoscopy or if we should just start them on empiric antifungal therapy.”

Unfortunately, the sensitivity of serum GM is relatively low in CAPA – lower than with classic invasive aspergillosis in the nonviral setting, sources said. BDG, on the other hand, can be falsely positive in the setting of antimicrobials and within the ICU. And the utility of imaging for CAPA is limited. Both the clinical picture and radiological findings of CAPA have resembled those of severe COVID – with the caveat of cavitary lung lesions visible on imaging.

“Cavities or nodules are a highly suspicious finding that could indicate possible fungal infection,” said pulmonologist Amir A. Zeki, MD, MAS, professor of medicine at the University of California, Davis, and codirector of the UC Davis Asthma Network Clinic, who has cared for patients with CAPA.

Cavitation has been described in only a proportion of patients with CAPA, however. So in patients not doing well, “your suspicion has to be raised if you’re not seeing cavities,” he said.

Early in the pandemic, when patients worsened or failed to progress on mechanical ventilation, clinicians at the University of California, Davis, quickly learned not to pin blame too quickly on COVID-19 alone. This remains good advice today, Dr. Zeki said.

“If you have a patient who’s not doing well on a ventilator, not getting better [over weeks], has to be reintubated, has infiltrates or lung nodules that are evolving, or certainly, if they have a cavity, you have to suspect fungal infection,” said Dr. Zeki, who also practices at the Veterans Affairs Medical Center in San Diego. “Think about it for those patients who just aren’t moving forward and are continuing to struggle. Have a high index of suspicion, and consult with your infectious disease colleagues.”

Empiric treatment is warranted in some cases if a patient is doing poorly and suspicion for fungal infection is high based on clinical, radiographic, and/or laboratory evidence, he said.

The CDC’s Dr. Chiller said that screening and diagnostic algorithms currently vary from institution to institution, and that diagnostic challenges likely dissuade clinicians from thinking about fungi. “Clinicians often don’t want to deal with fungi – they’re difficult to diagnose, the treatments are limited and can be toxic. But fungi get pushed back until it’s too late,” he said.

“Fungal diagnostics is an area we all need a lot more help with,” and new diagnostics are in the pipeline, he said. In the meantime, he said, “there are tools out there, and we just need to use them more, and improve how they’re used.”

While reported CAPA thus far has typically occurred in the setting of ICU care and mechanical ventilation, it’s not always the case, Dr. Permpalung said. Lung and other solid organ transplant (SOT) recipients with COVID-19 are developing CAPA and other invasive secondary invasive fungal infections despite not being intubated, he said.

Of 276 SOT recipients with COVID-19 who required inpatient treatment at Johns Hopkins University hospitals from the beginning of the pandemic to March 2022, 23 patients developed invasive fungal infections (13 CAPA). Only a fraction – 38 of the 276 – had been intubated, he said.
 

Mucormycosis resistance

After CAPA, candidiasis and COVID-19-associated mucormycosis (CAM) – most frequently, rhino-orbital-cerebral disease or pulmonary disease – have been the leading reported fungal coinfections in COVID-19, said Dr. Hoenigl, who described the incidence, timeline, risk factors, and pathogenesis of these infections in a review published this year in Nature Microbiology. .

In India, where there has long been high exposure to Mucorales spores and a greater burden of invasive fungal disease, the rate of mucormycosis doubled in 2021, with rhino-orbital-cerebral disease reported almost exclusively, he said. Pulmonary disease has occurred almost exclusively in the ICU setting and has been present in about 50% of cases outside of India, including Europe and the United States.

A preprint meta-analysis of CAM cases posted by the Lancet in July 2022, in which investigators analyzed individual data of 556 reported cases of COVID-19–associated CAM, shows diabetes and history of corticosteroid use present in most patients, and an overall mortality rate of 44.4%, most of which stems from cases of pulmonary or disseminated disease. Thirteen of the 556 reported cases were from the United States.

An important take-away from the analysis, Dr. Hoenigl said, is that Aspergillus coinfection was seen in 7% of patients and was associated with higher mortality. “It’s important to consider that coinfections [of Aspergillus and Mucorales] can exist,” Dr. Hoenigl said, noting that like CAPA, pulmonary CAM is likely underdiagnosed and underreported.

As with CAPA, the clinical and radiological features of pulmonary CAM largely overlap with those associated with COVID-19, and bronchoscopy plays a central role in definitive diagnosis. In the United States, a Mucorales PCR test for blood and BAL fluid is commercially available and used at some centers, Dr. Hoenigl said.

“Mucormycosis is always difficult to treat ... a lot of the treatments don’t work particularly well,” said Dr. Thompson. “With aspergillosis, we have better treatment options.”

Dr. Thompson worries, however, about treatment resistance becoming widespread. Resistance to azole antifungal agents “is already pretty widespread in northern Europe, particularly in the Netherlands and part of the U.K.” because of injudicious use of antifungals in agriculture, he said. “We’ve started to see a few cases [of azole-resistant aspergillosis in the United States] and know it will be more widespread soon.”

Treatment resistance is a focus of the new WHO fungal priority pathogens list – the first such report from the organization. Of the 19 fungi on the list, 4 were ranked as critical: Cryptococcus neoformans, Candida auris, Aspergillus fumigatus, and Candida albicans. Like Dr. Thompson, Dr. Hoenigl contributed to the WHO report.

Dr. Hoenigl reported grant/research support from Astellas, Merck, F2G, Gilread, Pfizer, and Scynexis. Dr. Marr disclosed employment and equity in Pearl Diagnostics and Sfunga Therapeutics. Dr. Thompson, Dr. Permpalung, and Dr. Zeki reported that they have no relevant financial disclosures.
 

COVID-19 has lifted the lid on the risks of secondary pulmonary fungal infections in patients with severe respiratory viral illness – even previously immunocompetent individuals – and highlighted the importance of vigilant investigation to achieve early diagnoses, leading experts say.

Kathryn Kon/Science Photo Library/Getty Images

Most fungi are not under surveillance in the United States, leaving experts without a national picture of the true burden of infection through the pandemic. However, a collection of published case series, cohort studies, and reviews from Europe, the United States, and throughout the world – mainly pre-Omicron – show that fungal disease has affected a significant portion of critically ill patients with COVID-19, with concerning excess mortality, these experts say.

COVID-associated pulmonary aspergillosis (CAPA) has been the predominant fungal coinfection in the United States and internationally. But COVID-associated mucormycosis (CAM) – the infection that surged in India in early 2021 – has also affected some patients in the United States, published data show. So have Pneumocystitis pneumonia, cryptococcosis, histoplasmosis, and Candida infections (which mainly affect the bloodstream and abdomen), say the experts who were interviewed.

“We had predicted [a rise in] aspergillosis, but we saw more than we thought we’d see. Most fungal infections became more common with COVID-19,” said George Thompson, MD, professor of clinical medicine at the University of California, Davis, and cochair of the University of Alabama–based Mycoses Study Group Education Committee, a group of experts in medical mycology. Pneumocystitis, for instance, “has historically been associated with AIDS or different types of leukemia or lymphoma, and is not an infection we’ve typically seen in our otherwise healthy ICU patients,” he noted. “But we did see more of it [with COVID-19].”

More recently, with fewer patients during the Omicron phase in intensive care units with acute respiratory failure, the profile of fungal disease secondary to COVID-19 has changed. Increasing proportions of patients have traditional risk factors for aspergillosis, such as hematologic malignancies and longer-term, pre-COVID use of systemic corticosteroids – a change that makes the contribution of the viral illness harder to distinguish.

Moving forward, the lessons of the COVID era – the fungal risks to patients with serious viral infections and the persistence needed to diagnose aspergillosis and other pulmonary fungal infections using bronchoscopy and imperfect noninvasive tests – should be taken to heart, experts say.

“Fungal diseases are not rare. They’re just not diagnosed because no one thinks to look for them,” said Dr. Thompson, a contributor to a recently released World Health Organization report naming a “fungal priority pathogens” list.

“We’re going to continue to see [secondary fungal infections] with other respiratory viruses,” he said. And overall, given environmental and other changes, “we’re going to see more and more fungal disease in the patients we take care of.”


 

CAPA not a surprise

CAPA is “not an unfamiliar story” in the world of fungal disease, given a history of influenza-associated pulmonary aspergillosis (IAPA), said Kieren A. Marr, MD, MBA, adjunct professor of medicine and past director of the transplant and oncology infectious diseases program at Johns Hopkins University, Baltimore, who has long researched invasive fungal disease.

European researchers, she said, have led the way in describing a high incidence of IAPA in patients admitted to ICUs with influenza. In a retrospective multicenter cohort study reported in 2018 by the Dutch-Belgian Mycosis Study group, for instance, almost 20% of 432 influenza patients admitted to the ICU, including patients who were otherwise healthy and not immunocompromised, had the diagnosis a median of 3 days after ICU admission. (Across other cohort studies, rates of IAPA have ranged from 7% to 30%.)

Mortality was significant: 51% of patients with influenza and invasive pulmonary aspergillosis died within 90 days, compared with 28% of patients with influenza and no invasive pulmonary aspergillosis.

Reports from Europe early in the pandemic indicated that CAPA was a similarly serious problem, prompting establishment at Johns Hopkins University of an aggressive screening program utilizing biomarker-based testing of blood and bronchoalveolar lavage (BAL) fluid. Of 396 mechanically ventilated COVID-19 patients admitted to Johns Hopkins University hospitals between March and August 2020, 39 met the institution’s criteria for CAPA, Dr. Marr and her colleagues reported this year in what might be the largest U.S. cohort study of CAPA published to date.

“We now know definitively that people with severe influenza and with severe COVID also have high risks for both invasive and airway disease caused by airborne fungi, most commonly aspergilliosis,” Dr. Marr said.

More recent unpublished analyses of patients from the start of the pandemic to June 2021 show persistent risk, said Nitipong Permpalung, MD, MPH, assistant professor in transplant and oncology infectious diseases at Johns Hopkins University and lead author of the cohort study. Among 832 patients with COVID-19 who were mechanically ventilated in Johns Hopkins University hospitals, 11.8% had CAPA, he said. (Also, 3.2% had invasive candidiasis, and 1.1% had other invasive fungal infections.)

Other sources said in interviews that these CAPA prevalence rates generally mirror reports from Europe, though some investigators in Europe have reported CAPA rates more toward 15%.

(The Mycoses Study Group recently collected data from its consortium of U.S. medical centers on the prevalence of CAPA, with funding support from the CDC, but at press time the data had not yet been released. Dr. Thompson said he suspected the prevalence will be lower than earlier papers have suggested, “but still will reflect a significant burden of disease.”)

Patients in the published Johns Hopkins University study who had CAPA were more likely than those with COVID-19 but no CAPA to have underlying pulmonary disease, liver disease, coagulopathy, solid tumors, multiple myeloma, and COVID-19–directed corticosteroids. And they had uniformly worse outcomes with regards to severity of illness and length of intubation.

How much of CAPA is driven by the SARS-CoV-2 virus itself and how much is a consequence of COVID-19 treatments is a topic of active discussion and research. Martin Hoenigl, MD, of the University of Graz, Austria, a leading researcher in medical mycology, said research shows corticosteroids and anti–IL-6 treatments, such as tocilizumab, used to treat COVID-19–driven acute respiratory failure clearly have contributed to CAPA. But he contends that “a number of other mechanisms” are involved as well.

“The immunologic mechanisms are definitely different in these patients with viral illness than in other ICU patients [who develop aspergilliosis]. It’s not just the corticosteroids. The more we learn, we see the virus plays a role as well, suppressing the interferon pathway,” for example, said Dr. Hoenigl, associate professor in the division of infectious diseases and the European Confederation of Medical Mycology (ECMM) Center of Excellence at the university. The earliest reports of CAPA came “when ICUs weren’t using dexamethasone or tocilizumab,” he noted.

In a paper published recently in Lancet Respiratory Medicine that Dr. Hoenigl and others point to, Belgian researchers reported a “three-level breach” in innate antifungal immunity in both IAPA and CAPA, affecting the integrity of the epithelial barrier, the capacity to phagocytose and kill Aspergillus spores, and the ability to destroy Aspergillus hyphae, which is mainly mediated by neutrophils.

The researchers ran a host of genetic and protein analyses on lung samples (most collected via BAL) of 169 patients with influenza or COVID-19, with and without aspergillosis. They found that patients with CAPA had significantly lower neutrophil cell fractions than patients with COVID-19 only, and patients with IAPA or CAPA had reduced type II IFN signaling and increased concentrations of fibrosis-associated growth factors in the lower respiratory tracts (Lancet Respir Med. 2022 Aug 24).

Tom Chiller, MD, MPH, chief of the Center for Disease Control and Prevention’s Mycotic Disease Branch, said he’s watching such research with interest. For now, he said, it’s important to also consider that “data on COVID show that almost all patients going into the ICUs with pneumonia and COVID are getting broad-spectrum antibiotics” in addition to corticosteroids.

By wiping out good bacteria, the antibiotics could be “creating a perfect niche for fungi to grow,” he said.


 

Diagnostic challenges

Aspergillus that has invaded the lung tissue in patients with COVID-19 appears to grow there for some time – around 8-10 days, much longer than in IAPA – before becoming angioinvasive, said Dr. Hoenigl. Such a pathophysiology “implicates that we should try to diagnose it while it’s in the lung tissue, using the BAL fluid, and not yet in the blood,” he said.

Some multicenter studies, including one from Europe on Aspergillus test profiles in critically ill COVID-19 patients, have shown mortality rates of close to 90% in patients with CAPA who have positive serum biomarkers, despite appropriate antifungal therapy. “If diagnosed while confined to the lung, however, mortality rates are more like 40%-50% with antifungal therapy,” Dr. Hoenigl said. (Cohort studies published thus far have fairly consistently reported mortality rates in patients with CAPA greater than 40%, he said.)

Bronchoscopy isn’t always pragmatic or possible, however, and is variably used. Some patients with severe COVID-19 may be too unstable for any invasive procedure, said Dr. Permpalung.

Dr. Permpalung looks for CAPA using serum (1-3) beta-D-glucan (BDG, a generic fungal test not specific to Aspergillus), serum galactomannan (GM, specific for Aspergillus), and respiratory cultures (sputum or endotracheal aspirate if intubated) as initial screening tests in the ICU. If there are concerns for CAPA – based on these tests and/or the clinical picture – “a thoughtful risk-benefit discussion is required to determine if patients would benefit from a bronchoscopy or if we should just start them on empiric antifungal therapy.”

Unfortunately, the sensitivity of serum GM is relatively low in CAPA – lower than with classic invasive aspergillosis in the nonviral setting, sources said. BDG, on the other hand, can be falsely positive in the setting of antimicrobials and within the ICU. And the utility of imaging for CAPA is limited. Both the clinical picture and radiological findings of CAPA have resembled those of severe COVID – with the caveat of cavitary lung lesions visible on imaging.

“Cavities or nodules are a highly suspicious finding that could indicate possible fungal infection,” said pulmonologist Amir A. Zeki, MD, MAS, professor of medicine at the University of California, Davis, and codirector of the UC Davis Asthma Network Clinic, who has cared for patients with CAPA.

Cavitation has been described in only a proportion of patients with CAPA, however. So in patients not doing well, “your suspicion has to be raised if you’re not seeing cavities,” he said.

Early in the pandemic, when patients worsened or failed to progress on mechanical ventilation, clinicians at the University of California, Davis, quickly learned not to pin blame too quickly on COVID-19 alone. This remains good advice today, Dr. Zeki said.

“If you have a patient who’s not doing well on a ventilator, not getting better [over weeks], has to be reintubated, has infiltrates or lung nodules that are evolving, or certainly, if they have a cavity, you have to suspect fungal infection,” said Dr. Zeki, who also practices at the Veterans Affairs Medical Center in San Diego. “Think about it for those patients who just aren’t moving forward and are continuing to struggle. Have a high index of suspicion, and consult with your infectious disease colleagues.”

Empiric treatment is warranted in some cases if a patient is doing poorly and suspicion for fungal infection is high based on clinical, radiographic, and/or laboratory evidence, he said.

The CDC’s Dr. Chiller said that screening and diagnostic algorithms currently vary from institution to institution, and that diagnostic challenges likely dissuade clinicians from thinking about fungi. “Clinicians often don’t want to deal with fungi – they’re difficult to diagnose, the treatments are limited and can be toxic. But fungi get pushed back until it’s too late,” he said.

“Fungal diagnostics is an area we all need a lot more help with,” and new diagnostics are in the pipeline, he said. In the meantime, he said, “there are tools out there, and we just need to use them more, and improve how they’re used.”

While reported CAPA thus far has typically occurred in the setting of ICU care and mechanical ventilation, it’s not always the case, Dr. Permpalung said. Lung and other solid organ transplant (SOT) recipients with COVID-19 are developing CAPA and other invasive secondary invasive fungal infections despite not being intubated, he said.

Of 276 SOT recipients with COVID-19 who required inpatient treatment at Johns Hopkins University hospitals from the beginning of the pandemic to March 2022, 23 patients developed invasive fungal infections (13 CAPA). Only a fraction – 38 of the 276 – had been intubated, he said.
 

Mucormycosis resistance

After CAPA, candidiasis and COVID-19-associated mucormycosis (CAM) – most frequently, rhino-orbital-cerebral disease or pulmonary disease – have been the leading reported fungal coinfections in COVID-19, said Dr. Hoenigl, who described the incidence, timeline, risk factors, and pathogenesis of these infections in a review published this year in Nature Microbiology. .

In India, where there has long been high exposure to Mucorales spores and a greater burden of invasive fungal disease, the rate of mucormycosis doubled in 2021, with rhino-orbital-cerebral disease reported almost exclusively, he said. Pulmonary disease has occurred almost exclusively in the ICU setting and has been present in about 50% of cases outside of India, including Europe and the United States.

A preprint meta-analysis of CAM cases posted by the Lancet in July 2022, in which investigators analyzed individual data of 556 reported cases of COVID-19–associated CAM, shows diabetes and history of corticosteroid use present in most patients, and an overall mortality rate of 44.4%, most of which stems from cases of pulmonary or disseminated disease. Thirteen of the 556 reported cases were from the United States.

An important take-away from the analysis, Dr. Hoenigl said, is that Aspergillus coinfection was seen in 7% of patients and was associated with higher mortality. “It’s important to consider that coinfections [of Aspergillus and Mucorales] can exist,” Dr. Hoenigl said, noting that like CAPA, pulmonary CAM is likely underdiagnosed and underreported.

As with CAPA, the clinical and radiological features of pulmonary CAM largely overlap with those associated with COVID-19, and bronchoscopy plays a central role in definitive diagnosis. In the United States, a Mucorales PCR test for blood and BAL fluid is commercially available and used at some centers, Dr. Hoenigl said.

“Mucormycosis is always difficult to treat ... a lot of the treatments don’t work particularly well,” said Dr. Thompson. “With aspergillosis, we have better treatment options.”

Dr. Thompson worries, however, about treatment resistance becoming widespread. Resistance to azole antifungal agents “is already pretty widespread in northern Europe, particularly in the Netherlands and part of the U.K.” because of injudicious use of antifungals in agriculture, he said. “We’ve started to see a few cases [of azole-resistant aspergillosis in the United States] and know it will be more widespread soon.”

Treatment resistance is a focus of the new WHO fungal priority pathogens list – the first such report from the organization. Of the 19 fungi on the list, 4 were ranked as critical: Cryptococcus neoformans, Candida auris, Aspergillus fumigatus, and Candida albicans. Like Dr. Thompson, Dr. Hoenigl contributed to the WHO report.

Dr. Hoenigl reported grant/research support from Astellas, Merck, F2G, Gilread, Pfizer, and Scynexis. Dr. Marr disclosed employment and equity in Pearl Diagnostics and Sfunga Therapeutics. Dr. Thompson, Dr. Permpalung, and Dr. Zeki reported that they have no relevant financial disclosures.
 

Amanda wanted to warn someone. In June 2021, her daughter – the one she and her husband had tried for 3 years to conceive – had died after only 28 hours. With an underdeveloped nose, she had battled for every breath.

Nobody knew why. Later, an autopsy report revealed their daughter had an extra 13th chromosome. The condition is nearly always fatal.

“But didn’t we test for that?” Amanda recalled asking herself. “That was kind of where the light bulb clicked.”

Through her doctor, Amanda had gotten a popular prenatal screening from a lab company. It had come back “negative.”

For three major conditions, including the one her baby had, the report gave the impression of near certainty. The likelihood that she would be born without them was “greater than 99%.”

As she recovered from a cesarean section, Amanda found herself facing a long maternity leave without a child. She shut the door to the empty nursery and began spending what seemed like endless hours of that hazy summer learning about the test.

It’s a simple blood draw designed to check for an array of genetic anomalies. But Amanda, a science researcher, read academic articles showing there was a higher risk of inaccurate results than she had realized. (She asked to be identified by only her first name to protect her privacy.)

On Reddit, she found other women reporting problems with the tests, too. She thought Labcorp, the company that made her test, would want to know about the screening that failed her. Maybe by alerting them, she could help other families. Maybe it would help her understand what happened.

“I was trying to gain answers,” said Amanda, now 32. She tried calling Labcorp’s customer service line, but she said she was passed along from one person to another. “It was just a circle,” she remembered.

She phoned Labcorp a second time. The call ended when an employee hung up on her.

Amanda was baffled. Why didn’t the company seem interested in her experience? Why, she wondered, wouldn’t it want to collect this data? Why wasn’t there someone who could answer her questions about how often this happens, and why?

If she had taken any number of other common commercial tests – including certain tests for COVID-19 or, say, pregnancy – the company would have been required to inform the U.S. Food and Drug Administration about reports of so-called adverse events.

But the test Amanda had falls into a regulatory void. No federal agency checks to make sure these prenatal screenings work the way they claim before they’re sold to health care providers. The FDA doesn’t ensure that marketing claims are backed up by evidence before screenings reach patients. And companies aren’t required to publicly report instances of when the tests get it wrong – sometimes catastrophically.

The broader lab testing industry and its lobbyists have successfully fought for years to keep it this way, cowing regulators into staying on the sidelines.

Worried about a growing variety of tests escaping scrutiny, the FDA was on the cusp of stepping in 6 years ago. But then it backed down.

Peter Lurie, then a top agency official, was at the meetings where the FDA tabled its plans. Not pushing harder, he told ProPublica, “remains one of my greatest regrets.”

The risk of false positives from prenatal screenings, in particular, has been known for years.

In 2014, the New England Center for Investigative Reporting detailed how some companies gave a misleading impression of the precision of the prenatal screenings. Women often didn’t understand they needed diagnostic testing to confirm the results. Some had gotten abortions based on false positive results, the story said. Earlier this year, the New York Times reported how companies sell optional extra screenings that are “usually wrong” when they predict a disorder.

Despite these stories and calls for reform by patient advocates, the government has done little to improve oversight of prenatal screenings. ProPublica set out to examine the forces that led to this inertia and left patients like Amanda feeling misled. Interviews with more than three dozen women revealed ongoing confusion about the screenings – and anger when their reliability proved to be overblown.

“This is a Wild West scenario where everybody is on their own,” said Lawrence Gostin, a Georgetown University, Washington, law professor specializing in bioethics.

The stakes for families are increasing. Upward of half of all pregnant people now receive one of these prenatal screenings. And with many states banning abortions or limiting them to early in pregnancies, the need for fast, accurate information has become more urgent.

The FDA itself acknowledges the problem. In correspondence with ProPublica, a spokesperson cited an “outdated policy” regarding the lack of vetting of many lab tests that the agency has “spent the better part of the last 2 decades trying to address.”

The screening industry, meanwhile, continues to expand, proving lucrative for those who lead it. The chief executive of Natera, which claims about 40% of the market share of prenatal screenings, received a $23 million compensation package last year, the highest of any executive at a publicly traded lab company.

Testing companies told ProPublica that, even without the FDA, there is significant oversight. Labs must abide by state regulations, and another federal agency, the Centers for Medicare and Medicaid Services, is charged with monitoring quality standards. It does not, however, check whether the tests the labs perform are clinically valid.

Companies also said the screenings offer important guidance to expectant families. Echoing others in the field, Labcorp said in a statement that the screenings, when used properly, “provide vital information about the presence of increased risk, but do not provide a definitive diagnosis.” (It declined to discuss the specifics of Amanda’s experience.)

Natera pointed out that its materials tell patients that “this test does not make a final diagnosis.” It reports results as “high-risk” or “low-risk,” not positive or negative.

Companies have stressed that, ultimately, it’s the responsibility of health care providers, who order the tests, to inform patients about the limits of screenings.

For all that, the statistical nuances of the test aren’t easy to parse for patients and even some doctors and nurses. For example, the test for trisomy 13, which doomed Amanda’s baby, is actually less likely to correctly predict the condition than other tests in the standard bundle of screenings offered to every patient.

When ProPublica asked readers to share their experiences with noninvasive prenatal screening tests, often referred to as NIPTs or NIPS, more than a thousand responded. Many said the tests had given them peace of mind. Some said they had provided an early warning about problems.

But others had more questions than answers. None more so than Amanda.

“What are these tests?” she wondered. “And how did mine end up in the margin of error?”
 

‘They started using it on humans, and then they went back and said: “Was our test accurate?” ’

Scientists have long tried to find ways to help parents and doctors understand what’s happening inside the womb. Amniocentesis was first used to reveal genetic anomalies in the late 1960s. But it didn’t become more popular until it began to be paired with ultrasound to precisely guide the procedure.

In the 1980s, doctors started using chorionic villus sampling, or CVS, an analysis of placental tissue that offers a diagnosis earlier in pregnancy. But, like amniocentesis, it is an invasive test that involves some risk to the fetus, though experts say it’s exceptionally low.

A breakthrough came in the late 1990s, when a scientist recognized that free-floating placental DNA could be detected in the mother’s blood. This meant that the fetus’s chromosomes could be examined by collecting a blood sample as soon as 9 weeks into pregnancy. This also provides an early opportunity to learn the likely fetal sex – a particularly popular feature.

Champions of the new science celebrated the arrival of a simple technique for patients that was particularly precise, at least for some conditions. Many favored it over other noninvasive options. But the industry that developed around NIPT has been marred by controversy from the beginning.

Dr. Ronald Wapner, director of reproductive genetics at Columbia University, described that time as “very chaotic.”

The tests had not been appropriately evaluated in clinical practice, said Dr. Wapner, whose research has sometimes been funded by testing companies. Because of this, he said, the industry “had very incomplete data on how well it worked.”

That didn’t stop the excitement. The chief executive of Sequenom, a biotechnology company that planned to release the first NIPT for Down syndrome, championed the company as the “Google of Molecular Diagnostics.” Its stock price soared.

Then, about 2 months before an expected launch in 2009, Sequenom killed the plan. The company’s research director, it turned out, had manipulated testing data and made misleading claims about how well the screening worked.

The U.S. Securities and Exchange Commission and Federal Bureau of Investigation opened investigations. Top executives were fired, and the research director pleaded guilty to conspiracy to commit securities fraud. Sequenom still managed to commercialize the test in 2011. (Labcorp, which later acquired Sequenom, said it uses a different kind of test.)

Other companies soon debuted their own tests. Still, there was little data on their clinical performance, researchers said.

As Megan Allyse, a bioethicist at the Mayo Clinic, put it, the companies “launched the test, they started using it on humans, and then they went back and said, ‘Was our test accurate?’ ” She also questioned the lack of attention to the ethics of how tests are presented to patients.

Despite missteps by the industry, the FDA didn’t scrutinize the screenings because they were considered lab-developed tests, which means they are created by the same laboratory that conducts them.

In 1976, Congress revamped oversight over medical devices. Since then, the FDA has effectively exempted such “home-brew” tests from key regulatory requirements. The idea was that when, say, a hospital lab wanted to create a simple test for its own patients, it was spared the time, money, and hassle of getting approval from Washington bureaucrats.

Today, lab-developed tests are vastly more numerous and complex. Because they aren’t registered with the federal government, nobody knows how many exist.

The distinction between tests the FDA actively regulates and those they don’t can seem nonsensical. It isn’t based on the complexity of the tests, or how people use them. It’s simply a matter of where the test is made.

The prenatal genetic screening industry took off almost immediately, powered by an army of aggressive sales representatives.

“At the very beginning, obstetricians in practice were being just completely inundated with visits from the sales reps,” said Dr. John Williams, director of reproductive health at Cedars-Sinai Medical Center in Los Angeles. The push left many ob.gyns. and patients thinking the screenings were accurate enough to substitute for diagnostic tests, such as amniocentesis or CVS.

In some cases, sales tactics escalated into lawbreaking.

Former Sequenom executives who exited during the fraud scandal created a new company that became Progenity, which also offered prenatal screening. Shortly after the company went public in 2020, it finalized a $49 million settlement with federal and state governments, where it admitted to falsifying insurance claims and giving kickbacks to physicians and their staff. According to a legal filing, one sales rep spent $65,658 on meals and alcohol for physicians in 1 year.

Now called Biora Therapeutics, the company said in a statement it no longer does any laboratory testing, including prenatal screenings.

Industry revenue continues to grow, but some testing companies are still fighting to make a profit, and competition to survive is fierce. “There’s a multibillion-dollar market, and they all want a piece of it,” said a former Progenity sales rep who quit in disgust after 5 months in 2016.

The rep, who requested anonymity because she continues to work in the field, said she still sees competitors from NIPT companies visiting medical practices “every week, buying breakfast or dinner, or taking them out for happy hour.”

Over time, companies pointed to new peer-reviewed studies, research the industry itself funded, to earn the confidence of doctors and other stakeholders. They showed that two tests – for Down syndrome and trisomy 18 – often performed better than other screening methods.

This research was valid, said Dr. Mary Norton, a perinatologist and clinical geneticist at the University of California, San Francisco, Medical Center’s prenatal diagnostic center. Considered a leading researcher in the field, she was an author of many of these key industry-funded studies.

But, she said, when research findings were presented publicly, the companies sometimes downplayed “inconvenient truths,” such as the exclusion of inconclusive results from accuracy estimates. Crucial caveats were also glossed over by some companies when they translated research into promotional copy aimed at health care providers and patients. Those materials didn’t always mention the many factors that can limit the performance of the screenings, including high body weight, the rarity of the condition tested, and younger maternal age.

Testing companies said they try to help patients understand the screenings through online resources and other materials. Some offer genetic counseling services.

The younger a person is, the lower the test’s positive predictive value – that is, the probability that a positive screening result will turn out to be correct – will be for some conditions. For instance, because Down syndrome is less prevalent in younger people’s pregnancies, a positive screening test is more likely to be a false positive for them.

Kristina was 30 years old in 2016, when her Progenity test came back positive for Down syndrome. She and her husband, who asked not to be fully named to protect their privacy, said they didn’t plan to carry a pregnancy with this condition to term.

But waiting to get an amniocentesis, and then waiting for the results, took 5 agonizing weeks, she said. It showed her son did not have Down syndrome.

Kristina, who lives in Texas, is still troubled by what she describes as a traumatic experience.

“I researched both late-term abortion providers and cemeteries,” she said. They even picked out a burial place, near their house.

She bought a blue baby blanket she intended to bury the baby’s tiny body in. She still has it. Her son, now 5, sleeps with it every night.
 

‘I can’t believe I didn’t say more’

As lab-developed tests became a bigger business, moving well past their home-brew origins, regulators looked for a way to assert oversight. In 2014, after years of study and debate, the time seemed right.

The FDA released plans proposing to regulate the tests, prioritizing those used to make major medical decisions. The agency has pointed to NIPTs as 1 of 20 concerning tests.

But, over the next 2 years, a coalition of power players urged the FDA to back off. Professional associations issued statements and hosted webinars devoted to the issue. Some created polished websites featuring sample letters to send to Washington.

Academic medical centers and pathology departments joined the fight, too. Scientists from 23 of them put it bluntly in a letter to the Office of Management and Budget: “FDA regulation of LDTs would be contrary to the public health,” it said, using a common acronym for the tests.

“Critical testing would be unavailable in the ‘lag time’ between development of new tests and FDA authorizing them,” the authors of the letter wrote, “and subsequent improvements on existing tests would slow significantly under the rigid, inflexible, and duplicative FDA regulatory scheme.”

This could delay essential care for patients. What’s more, opponents argued, existing lab reviews by the Centers for Medicare and Medicaid Services are sufficiently rigorous. Some have suggested modernizing the CMS review process to improve oversight.

An FDA spokesperson told ProPublica that the agency encountered “continued, negative feedback,” including a 25-page paper written by two legal heavyweights hired by the American Clinical Laboratory Association: Paul Clement, President George W. Bush’s former solicitor general, and Laurence Tribe, law professor at Harvard University.

Mr. Clement has reportedly commanded rates of $1,350 per hour. He and Mr. Tribe did not respond to ProPublica’s queries about their work.

Their brief argued that the FDA “lacked legal authority” to regulate lab-developed tests because they are properly seen as the practice of medicine: a service, rather than a product.

However, as lawyers representing the American Association of Bioanalysts countered, the FDA would vet tests before they reach the market, not control how doctors use them. The government proposal, they wrote, is “similar to imposing requirements to screen blood or label drugs.”

After the election of President Donald Trump, but before he took office, a handful of FDA officials discussed their battered proposal. It had represented a breakthrough in the decades of excruciating back-and-forth with industry. But now, with an incoming administration bent on deregulation, their efforts seemed futile.

The regulators feared anything they enacted would be undone by Congress – and, under the Congressional Review Act, they might not be able to reissue anything “substantially similar” in the future. So the FDA published a white paper instead, summarizing the issue “for further public discussion.”

After the meeting where officials made this call, Mr. Lurie, then the FDA’s associate commissioner, recalled a colleague approaching him: “I can’t believe you didn’t say more.”

“And I was like, ‘Yeah, actually, I can’t believe I didn’t say more either,’ ” Mr. Lurie later told ProPublica. (After leaving the agency, Mr. Lurie went on to lead the Center for Science in the Public Interest, a consumer advocacy nonprofit, which has pushed the FDA to finally assert oversight over lab-developed tests.)

Nancy Stade, an attorney and senior policy official who left the FDA in 2015, said the agency often moves slowly as it seeks to get buy-in from industry and professional groups. In her work on regulatory policy, she saw it happen with lab-developed tests.

The agency is “always testing the waters,” she said, “and always coming out with something a little bit softer.”

In 2020, the influential American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine, representing doctors who handle pregnancies, gave the screening industry another huge boost.

In a bulletin updating their advice on the tests, the two groups described growing research on the performance of some of the standard tests and said people have the right to information about their pregnancies, so the tests should be offered to all patients. Previously, they recommended this only for those facing higher risk of genetic anomalies.

The bulletin said the coauthors had disclosed no conflicts of interest. But two of the four coauthors, including Mary Norton, had disclosed in prior publications that test-makers had provided funding for their research. A company had provided a third coauthor with laboratory services needed to run tests, according to that researcher, a connection she also disclosed in past papers.

ACOG, in a statement to ProPublica, said the organization “identified no conflicts because research funding is provided to academic institutions with institutional review boards, not to individual investigators.” Two of the three researchers responded to questions from ProPublica and said they maintained independence over their work.

One test-maker, Illumina, celebrated the ACOG guidance in a tweet, saying it “recognizes the superior performance of #NIPT and the benefit it provides expectant families.” Natera’s share prices doubled in 5 months. UnitedHealthcare, the nation’s largest private insurer and long a target of industry lobbying, told ProPublica it changed its stance to cover screenings for all patients, regardless of risk, because of the recommendation.

In a recent shareholder report, Natera stated that prenatal genetic and carrier screenings “represent the significant majority of our revenues,” which totaled $625.5 million in 2021. The company expects more growth to come.

“The NIPT market is still very underpenetrated, compared to the 4 to 5 million pregnancies in the U.S.,” Natera’s chief executive said on a 2021 earnings call, “so there’s a long way to go.”

But even Dr. Norton, who coauthored the ACOG recommendation and favors NIPTs for patients 40 and over, has concerns about screenings becoming widespread among those who are younger. In most cases, she prefers other screening methods that catch the nongenetic problems younger moms are more likely to face. Negative results from an NIPT, she said, can be “falsely reassuring.”

In the years after the FDA set aside its regulatory proposal, the agency has assisted members of Congress on a proposed legislative solution. That effort, dubbed the VALID Act, aims to end any debate over the agency’s authority over lab-developed tests. An FDA press officer said the legislation would ensure the prenatal screening tests and others are “accurate and reliable.”

But, as in the past, intense lobbying followed the proposal. The VALID Act was a rider to a funding reauthorization bill, but in September the House and Senate agreed to remove it. Advocates now hope to attach it to proposed end-of-year legislation.

Meanwhile, earlier this year, 4 months after the New York Times story on the usefulness of some screenings, the FDA took a step toward more public awareness about prenatal genetic screening. It issued its first safety communication on them, noting the potential for false results.

It cautioned patients about making “critical health care decisions based on results from these screening tests alone.”

Cara Tenenbaum, a former FDA policy advisor, was pleased to see the statement. Still, she said, it was long overdue.

“This has been known – known, or should have been known – for 10 years,” she said.
 

‘It had me so messed up’

With the demise of Roe v. Wade, restrictive and ever-changing abortion laws can pressure people to act quickly with limited information, heightening the stakes of prenatal screening.

Julia, a mom from Mississippi’s Gulf Coast, knows what it’s like to face harrowing consequences while navigating state-imposed time limits – and doing so with little guidance. Last fall, she was pregnant with her fourth child when, she said, a nurse practitioner suggested prenatal genetic screening.

At 33, Julia had no risk factors. Her previous pregnancies hadn’t been screened with an NIPT. But with three sons and 18 nephews, she and her husband were curious about the baby’s sex. And the screening seemed like it had no downside.

Julia figured it would only be offered if it was reliable, so her nurse practitioner ordered her both the basic bundle of screenings and the extra tests. (The medical practice didn’t respond to interview requests. Julia is a family nickname that’s used here to protect her privacy.)

The screenings showed the baby was a girl – but the extra tests also detected trisomy 16, a condition caused by an extra chromosome that is so rare, the nurse didn’t know what it was, Julia recalled.

The nurse borrowed Julia’s phone, using it to search online and read aloud what she found. Julia was stunned to hear trisomy 16 was incompatible with life.

“I was utterly devastated,” she said. “I made it out of my doctor’s office but completely broke down in the car.”

But ACOG does not recommend the trisomy 16 screening, saying “its accuracy with regard to detection and the false-positive rate is not established.” Julia wasn’t informed of this, she said, and she’s not sure if her health care providers knew it either.

The lab report recommended diagnostic testing to confirm the results, but time was short. She had her amniocentesis at 17 weeks. It could take up to 4 more weeks to receive results.

That would be too late for a legal abortion in Mississippi. So she made an appointment for one in Florida, where the cutoff was 24 weeks. (It’s now 15 weeks in Florida, while Mississippi went from 15 weeks for legal procedures to a ban on nearly all abortions.)

The wait was excruciating. Julia was driving twice a week to New Orleans for specialized care. With work and child care, it was too hard. She quit the teaching job she loved.

One winter night, she felt the fetus move for the first time – ordinarily a milestone, but now, facing a fatal prognosis, she didn’t want to get attached. “It had me so messed up,” she said.

On the way to the amniocentesis, Julia and her husband chose a name. Drawing from a language conjured by J.R.R. Tolkien in the fantasy novels they love, it means “hope.”

More than halfway through her pregnancy, the amnio results arrived. The prenatal screening had given a false positive. The baby would be fine. In May, Julia gave birth to a healthy daughter.

Julia and her husband are upset about the needless anguish brought on by the screening. “They like to have it both ways,” said Julia’s husband. “They say they are 99% accurate, but when there’s a false positive, they say, ‘Well, we’re not diagnostic.’ ”

Believing the prenatal screening was likely accurate, they had seriously considered canceling the amniocentesis, saving their limited funds for an abortion in Florida, hundreds of miles away.

Their dilemma points to a longtime concern: ending pregnancies based on false positives. The FDA cited it as a risk as far back as 2015. Now, those with positive results are facing an even tighter time crunch. They must consider whether waiting for a definitive test, and possibly traveling to another state for an abortion later in pregnancy, is worth it.

In their promotional material, some companies not only sidestep the variability of the standard tests, they fail to distinguish them from the least reliable ones – those for exceptionally rare conditions. They tout the extra screenings as “premium,” “plus,” or “advanced” options.

“Going to greater lengths for the answers that matter most,” says a brochure aimed at health care providers from test-maker Illumina. Elsewhere it states that the “expanded” panel of tests provides “confident results” and “the additional insights you need.”

But the companies themselves know the accuracy of some of their tests has yet to be established in the research. Natera acknowledged in a recent shareholder report that many insurers won’t pay for screenings for missing chromosomal fragments, known as microdeletions, in part because there isn’t enough published data behind them.

The company, responding to ProPublica, stressed the quality of the data over the quantity, saying the research so far has been favorable. “Natera’s microdeletion testing was thoroughly validated with results published in peer-reviewed publications,” it said in a statement.

Natera pointed to a recent study that looked at DiGeorge syndrome, one of several chromosomal anomalies it checks for with its microdeletion screenings. Researchers found the positive predictive value (PPV) of the test to be 52.6%, meaning that nearly half of positive results are false positives. (For many patients, PPVs for more common conditions can exceed 90%.)

Natera said the performance of the diGeorge syndrome test “is excellent and not considered a low PPV,” because of the condition being extremely rare.

Companies also play up the danger of diagnostic tests like amnio. They “can cause miscarriages,” warns the marketing from Labcorp, which made Amanda’s screening, while its test “does not cause miscarriages.” But medical experts emphasize that diagnostic tests, such as amniocentesis, are more accurate and, in fact, carry little risk to the pregnancy.

Labcorp, in a statement, said the company “acknowledges the well-documented risk associated with amniocentesis and CVS in our literature. It is the patient’s prerogative to decide which risks they are willing or unwilling to take.”

Marketing claims also sometimes skate over the nuances in the guidance from the leading professional societies. On a webpage targeting health care providers, for example, a Labcorp chart said groups such as ACOG “endorse and/or recognize” prenatal screenings as an option for all pregnancies. But the chart listed screenings ACOG does not recommend, including trisomy 16.

When asked about it, Labcorp said in a statement that ACOG “endorses NIPS for all pregnancies.” In fact, the guidance is not so sweeping. It says only that the basic bundle of tests should be offered to all, alongside other screening options. It explicitly advises providers to not offer patients the extra tests.

Soon after ProPublica’s query, the Labcorp webpage was updated to remove any mention of the professional societies.

Patients say they often don’t know where to turn for informed and unbiased information. That’s why the r/NIPT Reddit page became such a robust community. Facing difficult news, Julia turned to it for counsel from other prospective parents. Kristina in Texas found the same community. Amanda, too.
 

‘The margin of error is a human life’

On a warm and cloudy day this past June, on what would have been their daughter’s first birthday, Amanda and her husband visited her grave. They brought a unicorn balloon and vanilla cake, which they ate nearby on the grass. Her husband read a poem.

To them, their baby had been perfect. She had fingers and toes. A thatch of dark hair. While in intensive care, peering up at her parents, she grabbed for her mother’s hand.

Had her condition been known, they would’ve spared her futile medical interventions, as doctors tried to save her life. Their family priest would have been able to baptize her. As it was, they never got to hold their child while she was alive.

These days, when Amanda and her husband say grace before dinner, they give thanks for the 28 hours of their daughter’s life.

They’re also thinking about making comfort boxes the hospital could give to other parents who lose a child. It might include books on grief. Softer tissues. Something that says, as Amanda puts it, “This is to help you get through.”

Amid their grief, they had a prayer answered: Amanda is pregnant again.

It’s frightening to go through this again. She barely sleeps the night before visiting the doctor. It feels like she never stopped being pregnant. It will feel that way, she said, until she brings a baby home – one who lives past the first 2 nights.

Amanda planned to get another genetic screening test. At first she couldn’t bear it, wasn’t sure she could trust it. “The margin of error is a human life,” Amanda said.

The 10-week appointment passed. Then the 12-week appointment. After her 13th week, she took the plunge. The test she was given was from Labcorp.

Around this time, more than a year after Amanda had desperately tried to alert the company about what had happened to her and her first baby, she finally heard back. Labcorp’s vice president of genetic counseling and services reached out – after ProPublica contacted the company and shared Amanda’s story.

The executive would only speak to Amanda without a reporter present.

Amanda said that during the call, the executive told her that prenatal genetic tests are evolving, and doctors should be clear about what the screenings can and cannot do. By the end of the conversation, the executive offered Amanda her cell number.

Amanda said she appreciated the call. “I feel better. I feel like I got something.”

The same day, her screening results came back. They were negative.
 

This story was originally published on ProPublica. ProPublica is a nonprofit newsroom that investigates abuses of power. Sign up to receive their biggest stories as soon as they’re published.

Amanda wanted to warn someone. In June 2021, her daughter – the one she and her husband had tried for 3 years to conceive – had died after only 28 hours. With an underdeveloped nose, she had battled for every breath.

Nobody knew why. Later, an autopsy report revealed their daughter had an extra 13th chromosome. The condition is nearly always fatal.

“But didn’t we test for that?” Amanda recalled asking herself. “That was kind of where the light bulb clicked.”

Through her doctor, Amanda had gotten a popular prenatal screening from a lab company. It had come back “negative.”

For three major conditions, including the one her baby had, the report gave the impression of near certainty. The likelihood that she would be born without them was “greater than 99%.”

As she recovered from a cesarean section, Amanda found herself facing a long maternity leave without a child. She shut the door to the empty nursery and began spending what seemed like endless hours of that hazy summer learning about the test.

It’s a simple blood draw designed to check for an array of genetic anomalies. But Amanda, a science researcher, read academic articles showing there was a higher risk of inaccurate results than she had realized. (She asked to be identified by only her first name to protect her privacy.)

On Reddit, she found other women reporting problems with the tests, too. She thought Labcorp, the company that made her test, would want to know about the screening that failed her. Maybe by alerting them, she could help other families. Maybe it would help her understand what happened.

“I was trying to gain answers,” said Amanda, now 32. She tried calling Labcorp’s customer service line, but she said she was passed along from one person to another. “It was just a circle,” she remembered.

She phoned Labcorp a second time. The call ended when an employee hung up on her.

Amanda was baffled. Why didn’t the company seem interested in her experience? Why, she wondered, wouldn’t it want to collect this data? Why wasn’t there someone who could answer her questions about how often this happens, and why?

If she had taken any number of other common commercial tests – including certain tests for COVID-19 or, say, pregnancy – the company would have been required to inform the U.S. Food and Drug Administration about reports of so-called adverse events.

But the test Amanda had falls into a regulatory void. No federal agency checks to make sure these prenatal screenings work the way they claim before they’re sold to health care providers. The FDA doesn’t ensure that marketing claims are backed up by evidence before screenings reach patients. And companies aren’t required to publicly report instances of when the tests get it wrong – sometimes catastrophically.

The broader lab testing industry and its lobbyists have successfully fought for years to keep it this way, cowing regulators into staying on the sidelines.

Worried about a growing variety of tests escaping scrutiny, the FDA was on the cusp of stepping in 6 years ago. But then it backed down.

Peter Lurie, then a top agency official, was at the meetings where the FDA tabled its plans. Not pushing harder, he told ProPublica, “remains one of my greatest regrets.”

The risk of false positives from prenatal screenings, in particular, has been known for years.

In 2014, the New England Center for Investigative Reporting detailed how some companies gave a misleading impression of the precision of the prenatal screenings. Women often didn’t understand they needed diagnostic testing to confirm the results. Some had gotten abortions based on false positive results, the story said. Earlier this year, the New York Times reported how companies sell optional extra screenings that are “usually wrong” when they predict a disorder.

Despite these stories and calls for reform by patient advocates, the government has done little to improve oversight of prenatal screenings. ProPublica set out to examine the forces that led to this inertia and left patients like Amanda feeling misled. Interviews with more than three dozen women revealed ongoing confusion about the screenings – and anger when their reliability proved to be overblown.

“This is a Wild West scenario where everybody is on their own,” said Lawrence Gostin, a Georgetown University, Washington, law professor specializing in bioethics.

The stakes for families are increasing. Upward of half of all pregnant people now receive one of these prenatal screenings. And with many states banning abortions or limiting them to early in pregnancies, the need for fast, accurate information has become more urgent.

The FDA itself acknowledges the problem. In correspondence with ProPublica, a spokesperson cited an “outdated policy” regarding the lack of vetting of many lab tests that the agency has “spent the better part of the last 2 decades trying to address.”

The screening industry, meanwhile, continues to expand, proving lucrative for those who lead it. The chief executive of Natera, which claims about 40% of the market share of prenatal screenings, received a $23 million compensation package last year, the highest of any executive at a publicly traded lab company.

Testing companies told ProPublica that, even without the FDA, there is significant oversight. Labs must abide by state regulations, and another federal agency, the Centers for Medicare and Medicaid Services, is charged with monitoring quality standards. It does not, however, check whether the tests the labs perform are clinically valid.

Companies also said the screenings offer important guidance to expectant families. Echoing others in the field, Labcorp said in a statement that the screenings, when used properly, “provide vital information about the presence of increased risk, but do not provide a definitive diagnosis.” (It declined to discuss the specifics of Amanda’s experience.)

Natera pointed out that its materials tell patients that “this test does not make a final diagnosis.” It reports results as “high-risk” or “low-risk,” not positive or negative.

Companies have stressed that, ultimately, it’s the responsibility of health care providers, who order the tests, to inform patients about the limits of screenings.

For all that, the statistical nuances of the test aren’t easy to parse for patients and even some doctors and nurses. For example, the test for trisomy 13, which doomed Amanda’s baby, is actually less likely to correctly predict the condition than other tests in the standard bundle of screenings offered to every patient.

When ProPublica asked readers to share their experiences with noninvasive prenatal screening tests, often referred to as NIPTs or NIPS, more than a thousand responded. Many said the tests had given them peace of mind. Some said they had provided an early warning about problems.

But others had more questions than answers. None more so than Amanda.

“What are these tests?” she wondered. “And how did mine end up in the margin of error?”
 

‘They started using it on humans, and then they went back and said: “Was our test accurate?” ’

Scientists have long tried to find ways to help parents and doctors understand what’s happening inside the womb. Amniocentesis was first used to reveal genetic anomalies in the late 1960s. But it didn’t become more popular until it began to be paired with ultrasound to precisely guide the procedure.

In the 1980s, doctors started using chorionic villus sampling, or CVS, an analysis of placental tissue that offers a diagnosis earlier in pregnancy. But, like amniocentesis, it is an invasive test that involves some risk to the fetus, though experts say it’s exceptionally low.

A breakthrough came in the late 1990s, when a scientist recognized that free-floating placental DNA could be detected in the mother’s blood. This meant that the fetus’s chromosomes could be examined by collecting a blood sample as soon as 9 weeks into pregnancy. This also provides an early opportunity to learn the likely fetal sex – a particularly popular feature.

Champions of the new science celebrated the arrival of a simple technique for patients that was particularly precise, at least for some conditions. Many favored it over other noninvasive options. But the industry that developed around NIPT has been marred by controversy from the beginning.

Dr. Ronald Wapner, director of reproductive genetics at Columbia University, described that time as “very chaotic.”

The tests had not been appropriately evaluated in clinical practice, said Dr. Wapner, whose research has sometimes been funded by testing companies. Because of this, he said, the industry “had very incomplete data on how well it worked.”

That didn’t stop the excitement. The chief executive of Sequenom, a biotechnology company that planned to release the first NIPT for Down syndrome, championed the company as the “Google of Molecular Diagnostics.” Its stock price soared.

Then, about 2 months before an expected launch in 2009, Sequenom killed the plan. The company’s research director, it turned out, had manipulated testing data and made misleading claims about how well the screening worked.

The U.S. Securities and Exchange Commission and Federal Bureau of Investigation opened investigations. Top executives were fired, and the research director pleaded guilty to conspiracy to commit securities fraud. Sequenom still managed to commercialize the test in 2011. (Labcorp, which later acquired Sequenom, said it uses a different kind of test.)

Other companies soon debuted their own tests. Still, there was little data on their clinical performance, researchers said.

As Megan Allyse, a bioethicist at the Mayo Clinic, put it, the companies “launched the test, they started using it on humans, and then they went back and said, ‘Was our test accurate?’ ” She also questioned the lack of attention to the ethics of how tests are presented to patients.

Despite missteps by the industry, the FDA didn’t scrutinize the screenings because they were considered lab-developed tests, which means they are created by the same laboratory that conducts them.

In 1976, Congress revamped oversight over medical devices. Since then, the FDA has effectively exempted such “home-brew” tests from key regulatory requirements. The idea was that when, say, a hospital lab wanted to create a simple test for its own patients, it was spared the time, money, and hassle of getting approval from Washington bureaucrats.

Today, lab-developed tests are vastly more numerous and complex. Because they aren’t registered with the federal government, nobody knows how many exist.

The distinction between tests the FDA actively regulates and those they don’t can seem nonsensical. It isn’t based on the complexity of the tests, or how people use them. It’s simply a matter of where the test is made.

The prenatal genetic screening industry took off almost immediately, powered by an army of aggressive sales representatives.

“At the very beginning, obstetricians in practice were being just completely inundated with visits from the sales reps,” said Dr. John Williams, director of reproductive health at Cedars-Sinai Medical Center in Los Angeles. The push left many ob.gyns. and patients thinking the screenings were accurate enough to substitute for diagnostic tests, such as amniocentesis or CVS.

In some cases, sales tactics escalated into lawbreaking.

Former Sequenom executives who exited during the fraud scandal created a new company that became Progenity, which also offered prenatal screening. Shortly after the company went public in 2020, it finalized a $49 million settlement with federal and state governments, where it admitted to falsifying insurance claims and giving kickbacks to physicians and their staff. According to a legal filing, one sales rep spent $65,658 on meals and alcohol for physicians in 1 year.

Now called Biora Therapeutics, the company said in a statement it no longer does any laboratory testing, including prenatal screenings.

Industry revenue continues to grow, but some testing companies are still fighting to make a profit, and competition to survive is fierce. “There’s a multibillion-dollar market, and they all want a piece of it,” said a former Progenity sales rep who quit in disgust after 5 months in 2016.

The rep, who requested anonymity because she continues to work in the field, said she still sees competitors from NIPT companies visiting medical practices “every week, buying breakfast or dinner, or taking them out for happy hour.”

Over time, companies pointed to new peer-reviewed studies, research the industry itself funded, to earn the confidence of doctors and other stakeholders. They showed that two tests – for Down syndrome and trisomy 18 – often performed better than other screening methods.

This research was valid, said Dr. Mary Norton, a perinatologist and clinical geneticist at the University of California, San Francisco, Medical Center’s prenatal diagnostic center. Considered a leading researcher in the field, she was an author of many of these key industry-funded studies.

But, she said, when research findings were presented publicly, the companies sometimes downplayed “inconvenient truths,” such as the exclusion of inconclusive results from accuracy estimates. Crucial caveats were also glossed over by some companies when they translated research into promotional copy aimed at health care providers and patients. Those materials didn’t always mention the many factors that can limit the performance of the screenings, including high body weight, the rarity of the condition tested, and younger maternal age.

Testing companies said they try to help patients understand the screenings through online resources and other materials. Some offer genetic counseling services.

The younger a person is, the lower the test’s positive predictive value – that is, the probability that a positive screening result will turn out to be correct – will be for some conditions. For instance, because Down syndrome is less prevalent in younger people’s pregnancies, a positive screening test is more likely to be a false positive for them.

Kristina was 30 years old in 2016, when her Progenity test came back positive for Down syndrome. She and her husband, who asked not to be fully named to protect their privacy, said they didn’t plan to carry a pregnancy with this condition to term.

But waiting to get an amniocentesis, and then waiting for the results, took 5 agonizing weeks, she said. It showed her son did not have Down syndrome.

Kristina, who lives in Texas, is still troubled by what she describes as a traumatic experience.

“I researched both late-term abortion providers and cemeteries,” she said. They even picked out a burial place, near their house.

She bought a blue baby blanket she intended to bury the baby’s tiny body in. She still has it. Her son, now 5, sleeps with it every night.
 

‘I can’t believe I didn’t say more’

As lab-developed tests became a bigger business, moving well past their home-brew origins, regulators looked for a way to assert oversight. In 2014, after years of study and debate, the time seemed right.

The FDA released plans proposing to regulate the tests, prioritizing those used to make major medical decisions. The agency has pointed to NIPTs as 1 of 20 concerning tests.

But, over the next 2 years, a coalition of power players urged the FDA to back off. Professional associations issued statements and hosted webinars devoted to the issue. Some created polished websites featuring sample letters to send to Washington.

Academic medical centers and pathology departments joined the fight, too. Scientists from 23 of them put it bluntly in a letter to the Office of Management and Budget: “FDA regulation of LDTs would be contrary to the public health,” it said, using a common acronym for the tests.

“Critical testing would be unavailable in the ‘lag time’ between development of new tests and FDA authorizing them,” the authors of the letter wrote, “and subsequent improvements on existing tests would slow significantly under the rigid, inflexible, and duplicative FDA regulatory scheme.”

This could delay essential care for patients. What’s more, opponents argued, existing lab reviews by the Centers for Medicare and Medicaid Services are sufficiently rigorous. Some have suggested modernizing the CMS review process to improve oversight.

An FDA spokesperson told ProPublica that the agency encountered “continued, negative feedback,” including a 25-page paper written by two legal heavyweights hired by the American Clinical Laboratory Association: Paul Clement, President George W. Bush’s former solicitor general, and Laurence Tribe, law professor at Harvard University.

Mr. Clement has reportedly commanded rates of $1,350 per hour. He and Mr. Tribe did not respond to ProPublica’s queries about their work.

Their brief argued that the FDA “lacked legal authority” to regulate lab-developed tests because they are properly seen as the practice of medicine: a service, rather than a product.

However, as lawyers representing the American Association of Bioanalysts countered, the FDA would vet tests before they reach the market, not control how doctors use them. The government proposal, they wrote, is “similar to imposing requirements to screen blood or label drugs.”

After the election of President Donald Trump, but before he took office, a handful of FDA officials discussed their battered proposal. It had represented a breakthrough in the decades of excruciating back-and-forth with industry. But now, with an incoming administration bent on deregulation, their efforts seemed futile.

The regulators feared anything they enacted would be undone by Congress – and, under the Congressional Review Act, they might not be able to reissue anything “substantially similar” in the future. So the FDA published a white paper instead, summarizing the issue “for further public discussion.”

After the meeting where officials made this call, Mr. Lurie, then the FDA’s associate commissioner, recalled a colleague approaching him: “I can’t believe you didn’t say more.”

“And I was like, ‘Yeah, actually, I can’t believe I didn’t say more either,’ ” Mr. Lurie later told ProPublica. (After leaving the agency, Mr. Lurie went on to lead the Center for Science in the Public Interest, a consumer advocacy nonprofit, which has pushed the FDA to finally assert oversight over lab-developed tests.)

Nancy Stade, an attorney and senior policy official who left the FDA in 2015, said the agency often moves slowly as it seeks to get buy-in from industry and professional groups. In her work on regulatory policy, she saw it happen with lab-developed tests.

The agency is “always testing the waters,” she said, “and always coming out with something a little bit softer.”

In 2020, the influential American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine, representing doctors who handle pregnancies, gave the screening industry another huge boost.

In a bulletin updating their advice on the tests, the two groups described growing research on the performance of some of the standard tests and said people have the right to information about their pregnancies, so the tests should be offered to all patients. Previously, they recommended this only for those facing higher risk of genetic anomalies.

The bulletin said the coauthors had disclosed no conflicts of interest. But two of the four coauthors, including Mary Norton, had disclosed in prior publications that test-makers had provided funding for their research. A company had provided a third coauthor with laboratory services needed to run tests, according to that researcher, a connection she also disclosed in past papers.

ACOG, in a statement to ProPublica, said the organization “identified no conflicts because research funding is provided to academic institutions with institutional review boards, not to individual investigators.” Two of the three researchers responded to questions from ProPublica and said they maintained independence over their work.

One test-maker, Illumina, celebrated the ACOG guidance in a tweet, saying it “recognizes the superior performance of #NIPT and the benefit it provides expectant families.” Natera’s share prices doubled in 5 months. UnitedHealthcare, the nation’s largest private insurer and long a target of industry lobbying, told ProPublica it changed its stance to cover screenings for all patients, regardless of risk, because of the recommendation.

In a recent shareholder report, Natera stated that prenatal genetic and carrier screenings “represent the significant majority of our revenues,” which totaled $625.5 million in 2021. The company expects more growth to come.

“The NIPT market is still very underpenetrated, compared to the 4 to 5 million pregnancies in the U.S.,” Natera’s chief executive said on a 2021 earnings call, “so there’s a long way to go.”

But even Dr. Norton, who coauthored the ACOG recommendation and favors NIPTs for patients 40 and over, has concerns about screenings becoming widespread among those who are younger. In most cases, she prefers other screening methods that catch the nongenetic problems younger moms are more likely to face. Negative results from an NIPT, she said, can be “falsely reassuring.”

In the years after the FDA set aside its regulatory proposal, the agency has assisted members of Congress on a proposed legislative solution. That effort, dubbed the VALID Act, aims to end any debate over the agency’s authority over lab-developed tests. An FDA press officer said the legislation would ensure the prenatal screening tests and others are “accurate and reliable.”

But, as in the past, intense lobbying followed the proposal. The VALID Act was a rider to a funding reauthorization bill, but in September the House and Senate agreed to remove it. Advocates now hope to attach it to proposed end-of-year legislation.

Meanwhile, earlier this year, 4 months after the New York Times story on the usefulness of some screenings, the FDA took a step toward more public awareness about prenatal genetic screening. It issued its first safety communication on them, noting the potential for false results.

It cautioned patients about making “critical health care decisions based on results from these screening tests alone.”

Cara Tenenbaum, a former FDA policy advisor, was pleased to see the statement. Still, she said, it was long overdue.

“This has been known – known, or should have been known – for 10 years,” she said.
 

‘It had me so messed up’

With the demise of Roe v. Wade, restrictive and ever-changing abortion laws can pressure people to act quickly with limited information, heightening the stakes of prenatal screening.

Julia, a mom from Mississippi’s Gulf Coast, knows what it’s like to face harrowing consequences while navigating state-imposed time limits – and doing so with little guidance. Last fall, she was pregnant with her fourth child when, she said, a nurse practitioner suggested prenatal genetic screening.

At 33, Julia had no risk factors. Her previous pregnancies hadn’t been screened with an NIPT. But with three sons and 18 nephews, she and her husband were curious about the baby’s sex. And the screening seemed like it had no downside.

Julia figured it would only be offered if it was reliable, so her nurse practitioner ordered her both the basic bundle of screenings and the extra tests. (The medical practice didn’t respond to interview requests. Julia is a family nickname that’s used here to protect her privacy.)

The screenings showed the baby was a girl – but the extra tests also detected trisomy 16, a condition caused by an extra chromosome that is so rare, the nurse didn’t know what it was, Julia recalled.

The nurse borrowed Julia’s phone, using it to search online and read aloud what she found. Julia was stunned to hear trisomy 16 was incompatible with life.

“I was utterly devastated,” she said. “I made it out of my doctor’s office but completely broke down in the car.”

But ACOG does not recommend the trisomy 16 screening, saying “its accuracy with regard to detection and the false-positive rate is not established.” Julia wasn’t informed of this, she said, and she’s not sure if her health care providers knew it either.

The lab report recommended diagnostic testing to confirm the results, but time was short. She had her amniocentesis at 17 weeks. It could take up to 4 more weeks to receive results.

That would be too late for a legal abortion in Mississippi. So she made an appointment for one in Florida, where the cutoff was 24 weeks. (It’s now 15 weeks in Florida, while Mississippi went from 15 weeks for legal procedures to a ban on nearly all abortions.)

The wait was excruciating. Julia was driving twice a week to New Orleans for specialized care. With work and child care, it was too hard. She quit the teaching job she loved.

One winter night, she felt the fetus move for the first time – ordinarily a milestone, but now, facing a fatal prognosis, she didn’t want to get attached. “It had me so messed up,” she said.

On the way to the amniocentesis, Julia and her husband chose a name. Drawing from a language conjured by J.R.R. Tolkien in the fantasy novels they love, it means “hope.”

More than halfway through her pregnancy, the amnio results arrived. The prenatal screening had given a false positive. The baby would be fine. In May, Julia gave birth to a healthy daughter.

Julia and her husband are upset about the needless anguish brought on by the screening. “They like to have it both ways,” said Julia’s husband. “They say they are 99% accurate, but when there’s a false positive, they say, ‘Well, we’re not diagnostic.’ ”

Believing the prenatal screening was likely accurate, they had seriously considered canceling the amniocentesis, saving their limited funds for an abortion in Florida, hundreds of miles away.

Their dilemma points to a longtime concern: ending pregnancies based on false positives. The FDA cited it as a risk as far back as 2015. Now, those with positive results are facing an even tighter time crunch. They must consider whether waiting for a definitive test, and possibly traveling to another state for an abortion later in pregnancy, is worth it.

In their promotional material, some companies not only sidestep the variability of the standard tests, they fail to distinguish them from the least reliable ones – those for exceptionally rare conditions. They tout the extra screenings as “premium,” “plus,” or “advanced” options.

“Going to greater lengths for the answers that matter most,” says a brochure aimed at health care providers from test-maker Illumina. Elsewhere it states that the “expanded” panel of tests provides “confident results” and “the additional insights you need.”

But the companies themselves know the accuracy of some of their tests has yet to be established in the research. Natera acknowledged in a recent shareholder report that many insurers won’t pay for screenings for missing chromosomal fragments, known as microdeletions, in part because there isn’t enough published data behind them.

The company, responding to ProPublica, stressed the quality of the data over the quantity, saying the research so far has been favorable. “Natera’s microdeletion testing was thoroughly validated with results published in peer-reviewed publications,” it said in a statement.

Natera pointed to a recent study that looked at DiGeorge syndrome, one of several chromosomal anomalies it checks for with its microdeletion screenings. Researchers found the positive predictive value (PPV) of the test to be 52.6%, meaning that nearly half of positive results are false positives. (For many patients, PPVs for more common conditions can exceed 90%.)

Natera said the performance of the diGeorge syndrome test “is excellent and not considered a low PPV,” because of the condition being extremely rare.

Companies also play up the danger of diagnostic tests like amnio. They “can cause miscarriages,” warns the marketing from Labcorp, which made Amanda’s screening, while its test “does not cause miscarriages.” But medical experts emphasize that diagnostic tests, such as amniocentesis, are more accurate and, in fact, carry little risk to the pregnancy.

Labcorp, in a statement, said the company “acknowledges the well-documented risk associated with amniocentesis and CVS in our literature. It is the patient’s prerogative to decide which risks they are willing or unwilling to take.”

Marketing claims also sometimes skate over the nuances in the guidance from the leading professional societies. On a webpage targeting health care providers, for example, a Labcorp chart said groups such as ACOG “endorse and/or recognize” prenatal screenings as an option for all pregnancies. But the chart listed screenings ACOG does not recommend, including trisomy 16.

When asked about it, Labcorp said in a statement that ACOG “endorses NIPS for all pregnancies.” In fact, the guidance is not so sweeping. It says only that the basic bundle of tests should be offered to all, alongside other screening options. It explicitly advises providers to not offer patients the extra tests.

Soon after ProPublica’s query, the Labcorp webpage was updated to remove any mention of the professional societies.

Patients say they often don’t know where to turn for informed and unbiased information. That’s why the r/NIPT Reddit page became such a robust community. Facing difficult news, Julia turned to it for counsel from other prospective parents. Kristina in Texas found the same community. Amanda, too.
 

‘The margin of error is a human life’

On a warm and cloudy day this past June, on what would have been their daughter’s first birthday, Amanda and her husband visited her grave. They brought a unicorn balloon and vanilla cake, which they ate nearby on the grass. Her husband read a poem.

To them, their baby had been perfect. She had fingers and toes. A thatch of dark hair. While in intensive care, peering up at her parents, she grabbed for her mother’s hand.

Had her condition been known, they would’ve spared her futile medical interventions, as doctors tried to save her life. Their family priest would have been able to baptize her. As it was, they never got to hold their child while she was alive.

These days, when Amanda and her husband say grace before dinner, they give thanks for the 28 hours of their daughter’s life.

They’re also thinking about making comfort boxes the hospital could give to other parents who lose a child. It might include books on grief. Softer tissues. Something that says, as Amanda puts it, “This is to help you get through.”

Amid their grief, they had a prayer answered: Amanda is pregnant again.

It’s frightening to go through this again. She barely sleeps the night before visiting the doctor. It feels like she never stopped being pregnant. It will feel that way, she said, until she brings a baby home – one who lives past the first 2 nights.

Amanda planned to get another genetic screening test. At first she couldn’t bear it, wasn’t sure she could trust it. “The margin of error is a human life,” Amanda said.

The 10-week appointment passed. Then the 12-week appointment. After her 13th week, she took the plunge. The test she was given was from Labcorp.

Around this time, more than a year after Amanda had desperately tried to alert the company about what had happened to her and her first baby, she finally heard back. Labcorp’s vice president of genetic counseling and services reached out – after ProPublica contacted the company and shared Amanda’s story.

The executive would only speak to Amanda without a reporter present.

Amanda said that during the call, the executive told her that prenatal genetic tests are evolving, and doctors should be clear about what the screenings can and cannot do. By the end of the conversation, the executive offered Amanda her cell number.

Amanda said she appreciated the call. “I feel better. I feel like I got something.”

The same day, her screening results came back. They were negative.
 

This story was originally published on ProPublica. ProPublica is a nonprofit newsroom that investigates abuses of power. Sign up to receive their biggest stories as soon as they’re published.

Amanda wanted to warn someone. In June 2021, her daughter – the one she and her husband had tried for 3 years to conceive – had died after only 28 hours. With an underdeveloped nose, she had battled for every breath.

Nobody knew why. Later, an autopsy report revealed their daughter had an extra 13th chromosome. The condition is nearly always fatal.

“But didn’t we test for that?” Amanda recalled asking herself. “That was kind of where the light bulb clicked.”

Through her doctor, Amanda had gotten a popular prenatal screening from a lab company. It had come back “negative.”

For three major conditions, including the one her baby had, the report gave the impression of near certainty. The likelihood that she would be born without them was “greater than 99%.”

As she recovered from a cesarean section, Amanda found herself facing a long maternity leave without a child. She shut the door to the empty nursery and began spending what seemed like endless hours of that hazy summer learning about the test.

It’s a simple blood draw designed to check for an array of genetic anomalies. But Amanda, a science researcher, read academic articles showing there was a higher risk of inaccurate results than she had realized. (She asked to be identified by only her first name to protect her privacy.)

On Reddit, she found other women reporting problems with the tests, too. She thought Labcorp, the company that made her test, would want to know about the screening that failed her. Maybe by alerting them, she could help other families. Maybe it would help her understand what happened.

“I was trying to gain answers,” said Amanda, now 32. She tried calling Labcorp’s customer service line, but she said she was passed along from one person to another. “It was just a circle,” she remembered.

She phoned Labcorp a second time. The call ended when an employee hung up on her.

Amanda was baffled. Why didn’t the company seem interested in her experience? Why, she wondered, wouldn’t it want to collect this data? Why wasn’t there someone who could answer her questions about how often this happens, and why?

If she had taken any number of other common commercial tests – including certain tests for COVID-19 or, say, pregnancy – the company would have been required to inform the U.S. Food and Drug Administration about reports of so-called adverse events.

But the test Amanda had falls into a regulatory void. No federal agency checks to make sure these prenatal screenings work the way they claim before they’re sold to health care providers. The FDA doesn’t ensure that marketing claims are backed up by evidence before screenings reach patients. And companies aren’t required to publicly report instances of when the tests get it wrong – sometimes catastrophically.

The broader lab testing industry and its lobbyists have successfully fought for years to keep it this way, cowing regulators into staying on the sidelines.

Worried about a growing variety of tests escaping scrutiny, the FDA was on the cusp of stepping in 6 years ago. But then it backed down.

Peter Lurie, then a top agency official, was at the meetings where the FDA tabled its plans. Not pushing harder, he told ProPublica, “remains one of my greatest regrets.”

The risk of false positives from prenatal screenings, in particular, has been known for years.

In 2014, the New England Center for Investigative Reporting detailed how some companies gave a misleading impression of the precision of the prenatal screenings. Women often didn’t understand they needed diagnostic testing to confirm the results. Some had gotten abortions based on false positive results, the story said. Earlier this year, the New York Times reported how companies sell optional extra screenings that are “usually wrong” when they predict a disorder.

Despite these stories and calls for reform by patient advocates, the government has done little to improve oversight of prenatal screenings. ProPublica set out to examine the forces that led to this inertia and left patients like Amanda feeling misled. Interviews with more than three dozen women revealed ongoing confusion about the screenings – and anger when their reliability proved to be overblown.

“This is a Wild West scenario where everybody is on their own,” said Lawrence Gostin, a Georgetown University, Washington, law professor specializing in bioethics.

The stakes for families are increasing. Upward of half of all pregnant people now receive one of these prenatal screenings. And with many states banning abortions or limiting them to early in pregnancies, the need for fast, accurate information has become more urgent.

The FDA itself acknowledges the problem. In correspondence with ProPublica, a spokesperson cited an “outdated policy” regarding the lack of vetting of many lab tests that the agency has “spent the better part of the last 2 decades trying to address.”

The screening industry, meanwhile, continues to expand, proving lucrative for those who lead it. The chief executive of Natera, which claims about 40% of the market share of prenatal screenings, received a $23 million compensation package last year, the highest of any executive at a publicly traded lab company.

Testing companies told ProPublica that, even without the FDA, there is significant oversight. Labs must abide by state regulations, and another federal agency, the Centers for Medicare and Medicaid Services, is charged with monitoring quality standards. It does not, however, check whether the tests the labs perform are clinically valid.

Companies also said the screenings offer important guidance to expectant families. Echoing others in the field, Labcorp said in a statement that the screenings, when used properly, “provide vital information about the presence of increased risk, but do not provide a definitive diagnosis.” (It declined to discuss the specifics of Amanda’s experience.)

Natera pointed out that its materials tell patients that “this test does not make a final diagnosis.” It reports results as “high-risk” or “low-risk,” not positive or negative.

Companies have stressed that, ultimately, it’s the responsibility of health care providers, who order the tests, to inform patients about the limits of screenings.

For all that, the statistical nuances of the test aren’t easy to parse for patients and even some doctors and nurses. For example, the test for trisomy 13, which doomed Amanda’s baby, is actually less likely to correctly predict the condition than other tests in the standard bundle of screenings offered to every patient.

When ProPublica asked readers to share their experiences with noninvasive prenatal screening tests, often referred to as NIPTs or NIPS, more than a thousand responded. Many said the tests had given them peace of mind. Some said they had provided an early warning about problems.

But others had more questions than answers. None more so than Amanda.

“What are these tests?” she wondered. “And how did mine end up in the margin of error?”
 

‘They started using it on humans, and then they went back and said: “Was our test accurate?” ’

Scientists have long tried to find ways to help parents and doctors understand what’s happening inside the womb. Amniocentesis was first used to reveal genetic anomalies in the late 1960s. But it didn’t become more popular until it began to be paired with ultrasound to precisely guide the procedure.

In the 1980s, doctors started using chorionic villus sampling, or CVS, an analysis of placental tissue that offers a diagnosis earlier in pregnancy. But, like amniocentesis, it is an invasive test that involves some risk to the fetus, though experts say it’s exceptionally low.

A breakthrough came in the late 1990s, when a scientist recognized that free-floating placental DNA could be detected in the mother’s blood. This meant that the fetus’s chromosomes could be examined by collecting a blood sample as soon as 9 weeks into pregnancy. This also provides an early opportunity to learn the likely fetal sex – a particularly popular feature.

Champions of the new science celebrated the arrival of a simple technique for patients that was particularly precise, at least for some conditions. Many favored it over other noninvasive options. But the industry that developed around NIPT has been marred by controversy from the beginning.

Dr. Ronald Wapner, director of reproductive genetics at Columbia University, described that time as “very chaotic.”

The tests had not been appropriately evaluated in clinical practice, said Dr. Wapner, whose research has sometimes been funded by testing companies. Because of this, he said, the industry “had very incomplete data on how well it worked.”

That didn’t stop the excitement. The chief executive of Sequenom, a biotechnology company that planned to release the first NIPT for Down syndrome, championed the company as the “Google of Molecular Diagnostics.” Its stock price soared.

Then, about 2 months before an expected launch in 2009, Sequenom killed the plan. The company’s research director, it turned out, had manipulated testing data and made misleading claims about how well the screening worked.

The U.S. Securities and Exchange Commission and Federal Bureau of Investigation opened investigations. Top executives were fired, and the research director pleaded guilty to conspiracy to commit securities fraud. Sequenom still managed to commercialize the test in 2011. (Labcorp, which later acquired Sequenom, said it uses a different kind of test.)

Other companies soon debuted their own tests. Still, there was little data on their clinical performance, researchers said.

As Megan Allyse, a bioethicist at the Mayo Clinic, put it, the companies “launched the test, they started using it on humans, and then they went back and said, ‘Was our test accurate?’ ” She also questioned the lack of attention to the ethics of how tests are presented to patients.

Despite missteps by the industry, the FDA didn’t scrutinize the screenings because they were considered lab-developed tests, which means they are created by the same laboratory that conducts them.

In 1976, Congress revamped oversight over medical devices. Since then, the FDA has effectively exempted such “home-brew” tests from key regulatory requirements. The idea was that when, say, a hospital lab wanted to create a simple test for its own patients, it was spared the time, money, and hassle of getting approval from Washington bureaucrats.

Today, lab-developed tests are vastly more numerous and complex. Because they aren’t registered with the federal government, nobody knows how many exist.

The distinction between tests the FDA actively regulates and those they don’t can seem nonsensical. It isn’t based on the complexity of the tests, or how people use them. It’s simply a matter of where the test is made.

The prenatal genetic screening industry took off almost immediately, powered by an army of aggressive sales representatives.

“At the very beginning, obstetricians in practice were being just completely inundated with visits from the sales reps,” said Dr. John Williams, director of reproductive health at Cedars-Sinai Medical Center in Los Angeles. The push left many ob.gyns. and patients thinking the screenings were accurate enough to substitute for diagnostic tests, such as amniocentesis or CVS.

In some cases, sales tactics escalated into lawbreaking.

Former Sequenom executives who exited during the fraud scandal created a new company that became Progenity, which also offered prenatal screening. Shortly after the company went public in 2020, it finalized a $49 million settlement with federal and state governments, where it admitted to falsifying insurance claims and giving kickbacks to physicians and their staff. According to a legal filing, one sales rep spent $65,658 on meals and alcohol for physicians in 1 year.

Now called Biora Therapeutics, the company said in a statement it no longer does any laboratory testing, including prenatal screenings.

Industry revenue continues to grow, but some testing companies are still fighting to make a profit, and competition to survive is fierce. “There’s a multibillion-dollar market, and they all want a piece of it,” said a former Progenity sales rep who quit in disgust after 5 months in 2016.

The rep, who requested anonymity because she continues to work in the field, said she still sees competitors from NIPT companies visiting medical practices “every week, buying breakfast or dinner, or taking them out for happy hour.”

Over time, companies pointed to new peer-reviewed studies, research the industry itself funded, to earn the confidence of doctors and other stakeholders. They showed that two tests – for Down syndrome and trisomy 18 – often performed better than other screening methods.

This research was valid, said Dr. Mary Norton, a perinatologist and clinical geneticist at the University of California, San Francisco, Medical Center’s prenatal diagnostic center. Considered a leading researcher in the field, she was an author of many of these key industry-funded studies.

But, she said, when research findings were presented publicly, the companies sometimes downplayed “inconvenient truths,” such as the exclusion of inconclusive results from accuracy estimates. Crucial caveats were also glossed over by some companies when they translated research into promotional copy aimed at health care providers and patients. Those materials didn’t always mention the many factors that can limit the performance of the screenings, including high body weight, the rarity of the condition tested, and younger maternal age.

Testing companies said they try to help patients understand the screenings through online resources and other materials. Some offer genetic counseling services.

The younger a person is, the lower the test’s positive predictive value – that is, the probability that a positive screening result will turn out to be correct – will be for some conditions. For instance, because Down syndrome is less prevalent in younger people’s pregnancies, a positive screening test is more likely to be a false positive for them.

Kristina was 30 years old in 2016, when her Progenity test came back positive for Down syndrome. She and her husband, who asked not to be fully named to protect their privacy, said they didn’t plan to carry a pregnancy with this condition to term.

But waiting to get an amniocentesis, and then waiting for the results, took 5 agonizing weeks, she said. It showed her son did not have Down syndrome.

Kristina, who lives in Texas, is still troubled by what she describes as a traumatic experience.

“I researched both late-term abortion providers and cemeteries,” she said. They even picked out a burial place, near their house.

She bought a blue baby blanket she intended to bury the baby’s tiny body in. She still has it. Her son, now 5, sleeps with it every night.
 

‘I can’t believe I didn’t say more’

As lab-developed tests became a bigger business, moving well past their home-brew origins, regulators looked for a way to assert oversight. In 2014, after years of study and debate, the time seemed right.

The FDA released plans proposing to regulate the tests, prioritizing those used to make major medical decisions. The agency has pointed to NIPTs as 1 of 20 concerning tests.

But, over the next 2 years, a coalition of power players urged the FDA to back off. Professional associations issued statements and hosted webinars devoted to the issue. Some created polished websites featuring sample letters to send to Washington.

Academic medical centers and pathology departments joined the fight, too. Scientists from 23 of them put it bluntly in a letter to the Office of Management and Budget: “FDA regulation of LDTs would be contrary to the public health,” it said, using a common acronym for the tests.

“Critical testing would be unavailable in the ‘lag time’ between development of new tests and FDA authorizing them,” the authors of the letter wrote, “and subsequent improvements on existing tests would slow significantly under the rigid, inflexible, and duplicative FDA regulatory scheme.”

This could delay essential care for patients. What’s more, opponents argued, existing lab reviews by the Centers for Medicare and Medicaid Services are sufficiently rigorous. Some have suggested modernizing the CMS review process to improve oversight.

An FDA spokesperson told ProPublica that the agency encountered “continued, negative feedback,” including a 25-page paper written by two legal heavyweights hired by the American Clinical Laboratory Association: Paul Clement, President George W. Bush’s former solicitor general, and Laurence Tribe, law professor at Harvard University.

Mr. Clement has reportedly commanded rates of $1,350 per hour. He and Mr. Tribe did not respond to ProPublica’s queries about their work.

Their brief argued that the FDA “lacked legal authority” to regulate lab-developed tests because they are properly seen as the practice of medicine: a service, rather than a product.

However, as lawyers representing the American Association of Bioanalysts countered, the FDA would vet tests before they reach the market, not control how doctors use them. The government proposal, they wrote, is “similar to imposing requirements to screen blood or label drugs.”

After the election of President Donald Trump, but before he took office, a handful of FDA officials discussed their battered proposal. It had represented a breakthrough in the decades of excruciating back-and-forth with industry. But now, with an incoming administration bent on deregulation, their efforts seemed futile.

The regulators feared anything they enacted would be undone by Congress – and, under the Congressional Review Act, they might not be able to reissue anything “substantially similar” in the future. So the FDA published a white paper instead, summarizing the issue “for further public discussion.”

After the meeting where officials made this call, Mr. Lurie, then the FDA’s associate commissioner, recalled a colleague approaching him: “I can’t believe you didn’t say more.”

“And I was like, ‘Yeah, actually, I can’t believe I didn’t say more either,’ ” Mr. Lurie later told ProPublica. (After leaving the agency, Mr. Lurie went on to lead the Center for Science in the Public Interest, a consumer advocacy nonprofit, which has pushed the FDA to finally assert oversight over lab-developed tests.)

Nancy Stade, an attorney and senior policy official who left the FDA in 2015, said the agency often moves slowly as it seeks to get buy-in from industry and professional groups. In her work on regulatory policy, she saw it happen with lab-developed tests.

The agency is “always testing the waters,” she said, “and always coming out with something a little bit softer.”

In 2020, the influential American College of Obstetricians and Gynecologists and Society for Maternal-Fetal Medicine, representing doctors who handle pregnancies, gave the screening industry another huge boost.

In a bulletin updating their advice on the tests, the two groups described growing research on the performance of some of the standard tests and said people have the right to information about their pregnancies, so the tests should be offered to all patients. Previously, they recommended this only for those facing higher risk of genetic anomalies.

The bulletin said the coauthors had disclosed no conflicts of interest. But two of the four coauthors, including Mary Norton, had disclosed in prior publications that test-makers had provided funding for their research. A company had provided a third coauthor with laboratory services needed to run tests, according to that researcher, a connection she also disclosed in past papers.

ACOG, in a statement to ProPublica, said the organization “identified no conflicts because research funding is provided to academic institutions with institutional review boards, not to individual investigators.” Two of the three researchers responded to questions from ProPublica and said they maintained independence over their work.

One test-maker, Illumina, celebrated the ACOG guidance in a tweet, saying it “recognizes the superior performance of #NIPT and the benefit it provides expectant families.” Natera’s share prices doubled in 5 months. UnitedHealthcare, the nation’s largest private insurer and long a target of industry lobbying, told ProPublica it changed its stance to cover screenings for all patients, regardless of risk, because of the recommendation.

In a recent shareholder report, Natera stated that prenatal genetic and carrier screenings “represent the significant majority of our revenues,” which totaled $625.5 million in 2021. The company expects more growth to come.

“The NIPT market is still very underpenetrated, compared to the 4 to 5 million pregnancies in the U.S.,” Natera’s chief executive said on a 2021 earnings call, “so there’s a long way to go.”

But even Dr. Norton, who coauthored the ACOG recommendation and favors NIPTs for patients 40 and over, has concerns about screenings becoming widespread among those who are younger. In most cases, she prefers other screening methods that catch the nongenetic problems younger moms are more likely to face. Negative results from an NIPT, she said, can be “falsely reassuring.”

In the years after the FDA set aside its regulatory proposal, the agency has assisted members of Congress on a proposed legislative solution. That effort, dubbed the VALID Act, aims to end any debate over the agency’s authority over lab-developed tests. An FDA press officer said the legislation would ensure the prenatal screening tests and others are “accurate and reliable.”

But, as in the past, intense lobbying followed the proposal. The VALID Act was a rider to a funding reauthorization bill, but in September the House and Senate agreed to remove it. Advocates now hope to attach it to proposed end-of-year legislation.

Meanwhile, earlier this year, 4 months after the New York Times story on the usefulness of some screenings, the FDA took a step toward more public awareness about prenatal genetic screening. It issued its first safety communication on them, noting the potential for false results.

It cautioned patients about making “critical health care decisions based on results from these screening tests alone.”

Cara Tenenbaum, a former FDA policy advisor, was pleased to see the statement. Still, she said, it was long overdue.

“This has been known – known, or should have been known – for 10 years,” she said.
 

‘It had me so messed up’

With the demise of Roe v. Wade, restrictive and ever-changing abortion laws can pressure people to act quickly with limited information, heightening the stakes of prenatal screening.

Julia, a mom from Mississippi’s Gulf Coast, knows what it’s like to face harrowing consequences while navigating state-imposed time limits – and doing so with little guidance. Last fall, she was pregnant with her fourth child when, she said, a nurse practitioner suggested prenatal genetic screening.

At 33, Julia had no risk factors. Her previous pregnancies hadn’t been screened with an NIPT. But with three sons and 18 nephews, she and her husband were curious about the baby’s sex. And the screening seemed like it had no downside.

Julia figured it would only be offered if it was reliable, so her nurse practitioner ordered her both the basic bundle of screenings and the extra tests. (The medical practice didn’t respond to interview requests. Julia is a family nickname that’s used here to protect her privacy.)

The screenings showed the baby was a girl – but the extra tests also detected trisomy 16, a condition caused by an extra chromosome that is so rare, the nurse didn’t know what it was, Julia recalled.

The nurse borrowed Julia’s phone, using it to search online and read aloud what she found. Julia was stunned to hear trisomy 16 was incompatible with life.

“I was utterly devastated,” she said. “I made it out of my doctor’s office but completely broke down in the car.”

But ACOG does not recommend the trisomy 16 screening, saying “its accuracy with regard to detection and the false-positive rate is not established.” Julia wasn’t informed of this, she said, and she’s not sure if her health care providers knew it either.

The lab report recommended diagnostic testing to confirm the results, but time was short. She had her amniocentesis at 17 weeks. It could take up to 4 more weeks to receive results.

That would be too late for a legal abortion in Mississippi. So she made an appointment for one in Florida, where the cutoff was 24 weeks. (It’s now 15 weeks in Florida, while Mississippi went from 15 weeks for legal procedures to a ban on nearly all abortions.)

The wait was excruciating. Julia was driving twice a week to New Orleans for specialized care. With work and child care, it was too hard. She quit the teaching job she loved.

One winter night, she felt the fetus move for the first time – ordinarily a milestone, but now, facing a fatal prognosis, she didn’t want to get attached. “It had me so messed up,” she said.

On the way to the amniocentesis, Julia and her husband chose a name. Drawing from a language conjured by J.R.R. Tolkien in the fantasy novels they love, it means “hope.”

More than halfway through her pregnancy, the amnio results arrived. The prenatal screening had given a false positive. The baby would be fine. In May, Julia gave birth to a healthy daughter.

Julia and her husband are upset about the needless anguish brought on by the screening. “They like to have it both ways,” said Julia’s husband. “They say they are 99% accurate, but when there’s a false positive, they say, ‘Well, we’re not diagnostic.’ ”

Believing the prenatal screening was likely accurate, they had seriously considered canceling the amniocentesis, saving their limited funds for an abortion in Florida, hundreds of miles away.

Their dilemma points to a longtime concern: ending pregnancies based on false positives. The FDA cited it as a risk as far back as 2015. Now, those with positive results are facing an even tighter time crunch. They must consider whether waiting for a definitive test, and possibly traveling to another state for an abortion later in pregnancy, is worth it.

In their promotional material, some companies not only sidestep the variability of the standard tests, they fail to distinguish them from the least reliable ones – those for exceptionally rare conditions. They tout the extra screenings as “premium,” “plus,” or “advanced” options.

“Going to greater lengths for the answers that matter most,” says a brochure aimed at health care providers from test-maker Illumina. Elsewhere it states that the “expanded” panel of tests provides “confident results” and “the additional insights you need.”

But the companies themselves know the accuracy of some of their tests has yet to be established in the research. Natera acknowledged in a recent shareholder report that many insurers won’t pay for screenings for missing chromosomal fragments, known as microdeletions, in part because there isn’t enough published data behind them.

The company, responding to ProPublica, stressed the quality of the data over the quantity, saying the research so far has been favorable. “Natera’s microdeletion testing was thoroughly validated with results published in peer-reviewed publications,” it said in a statement.

Natera pointed to a recent study that looked at DiGeorge syndrome, one of several chromosomal anomalies it checks for with its microdeletion screenings. Researchers found the positive predictive value (PPV) of the test to be 52.6%, meaning that nearly half of positive results are false positives. (For many patients, PPVs for more common conditions can exceed 90%.)

Natera said the performance of the diGeorge syndrome test “is excellent and not considered a low PPV,” because of the condition being extremely rare.

Companies also play up the danger of diagnostic tests like amnio. They “can cause miscarriages,” warns the marketing from Labcorp, which made Amanda’s screening, while its test “does not cause miscarriages.” But medical experts emphasize that diagnostic tests, such as amniocentesis, are more accurate and, in fact, carry little risk to the pregnancy.

Labcorp, in a statement, said the company “acknowledges the well-documented risk associated with amniocentesis and CVS in our literature. It is the patient’s prerogative to decide which risks they are willing or unwilling to take.”

Marketing claims also sometimes skate over the nuances in the guidance from the leading professional societies. On a webpage targeting health care providers, for example, a Labcorp chart said groups such as ACOG “endorse and/or recognize” prenatal screenings as an option for all pregnancies. But the chart listed screenings ACOG does not recommend, including trisomy 16.

When asked about it, Labcorp said in a statement that ACOG “endorses NIPS for all pregnancies.” In fact, the guidance is not so sweeping. It says only that the basic bundle of tests should be offered to all, alongside other screening options. It explicitly advises providers to not offer patients the extra tests.

Soon after ProPublica’s query, the Labcorp webpage was updated to remove any mention of the professional societies.

Patients say they often don’t know where to turn for informed and unbiased information. That’s why the r/NIPT Reddit page became such a robust community. Facing difficult news, Julia turned to it for counsel from other prospective parents. Kristina in Texas found the same community. Amanda, too.
 

‘The margin of error is a human life’

On a warm and cloudy day this past June, on what would have been their daughter’s first birthday, Amanda and her husband visited her grave. They brought a unicorn balloon and vanilla cake, which they ate nearby on the grass. Her husband read a poem.

To them, their baby had been perfect. She had fingers and toes. A thatch of dark hair. While in intensive care, peering up at her parents, she grabbed for her mother’s hand.

Had her condition been known, they would’ve spared her futile medical interventions, as doctors tried to save her life. Their family priest would have been able to baptize her. As it was, they never got to hold their child while she was alive.

These days, when Amanda and her husband say grace before dinner, they give thanks for the 28 hours of their daughter’s life.

They’re also thinking about making comfort boxes the hospital could give to other parents who lose a child. It might include books on grief. Softer tissues. Something that says, as Amanda puts it, “This is to help you get through.”

Amid their grief, they had a prayer answered: Amanda is pregnant again.

It’s frightening to go through this again. She barely sleeps the night before visiting the doctor. It feels like she never stopped being pregnant. It will feel that way, she said, until she brings a baby home – one who lives past the first 2 nights.

Amanda planned to get another genetic screening test. At first she couldn’t bear it, wasn’t sure she could trust it. “The margin of error is a human life,” Amanda said.

The 10-week appointment passed. Then the 12-week appointment. After her 13th week, she took the plunge. The test she was given was from Labcorp.

Around this time, more than a year after Amanda had desperately tried to alert the company about what had happened to her and her first baby, she finally heard back. Labcorp’s vice president of genetic counseling and services reached out – after ProPublica contacted the company and shared Amanda’s story.

The executive would only speak to Amanda without a reporter present.

Amanda said that during the call, the executive told her that prenatal genetic tests are evolving, and doctors should be clear about what the screenings can and cannot do. By the end of the conversation, the executive offered Amanda her cell number.

Amanda said she appreciated the call. “I feel better. I feel like I got something.”

The same day, her screening results came back. They were negative.
 

This story was originally published on ProPublica. ProPublica is a nonprofit newsroom that investigates abuses of power. Sign up to receive their biggest stories as soon as they’re published.

The exploration started in 2004 with a 62-year-old man who presented to an emergency department with acute shortness of breath, tachycardia with chest discomfort, and light-headedness, Amado Alejandro Baez, MD, said in a presentation at the 2022 scientific assembly of the American College of Emergency Physicians.

The patient arrived on day 20 after a radical cystoprostatectomy. He had driven 4 hours from another city for a urology follow-up visit. On arrival, he developed respiratory distress symptoms and presented to the emergency department, said Dr. Baez, professor of emergency medicine and epidemiology at the Medical College of Georgia/Augusta University and triple-board certified in EMS, emergency medicine, and critical care.

The patient developed a massive pulmonary embolism with acute cor pulmonale (right-sided heart failure). An electrocardiogram showed an S1Q3T3, demonstrating the distinctive nature of right ventricular failure, said Dr. Baez.

Research has demonstrated the differences in physiology between the right and left ventricles, he said.

Dr. Baez highlighted some of the features of right ventricle (RV) failure and how to manage it. Notably, the RV is thinner and less resilient. “RV failure patients may fall off the Starling curve,” in contrast to patients with isolated left ventricle (LV) failure.

RV pressure overload is associated with a range of conditions, such as pericardial disease, pulmonary embolism, acute respiratory distress syndrome, and pulmonary arterial hypertension. When combined with RV overload, patients may develop intracardiac shunting or coronary heart disease, Dr. Baez said. Decreased contractility associated with RV failure can result from sepsis, right ventricular myocardial infarction, myocarditis, and arrhythmia.

Dr. Baez cited the 2018 scientific statement from the American Heart Association on the evaluation and management of right-sided heart failure. The authors of the statement noted that the complicated geometry of the right heart makes functional assessment a challenge. They wrote that various hemodynamic and biochemical markers can help guide clinical assessment and therapeutic decision-making.

Increased RV afterload drives multiple factors that can ultimately lead to cardiogenic shock and death, said Dr. Baez. These factors include decreased RV oxygen delivery, decreased RV coronary perfusion, decreased systemic blood pressure, and low carbon monoxide levels. RV afterload also leads to decreased RV contractility, an increase in RV oxygen demand, and tension in the RV wall, and it may contribute to tricuspid valve insufficiency, neurohormonal activation, and RV ischemia.

Treatment strategies involve improving symptoms and stopping disease progression, said Baez. In its scientific statement, the AHA recommends steps for assessing RV and LV function so as to identify RV failure as soon as possible, he said. After excluding pericardial disease, the AHA advises diagnosis and treatment of etiology-specific causes, such as right ventricular MI, pulmonary embolism, and sepsis. For arrhythmias, it recommends maintaining sinus rhythm when possible and considering a pacemaker to maintain atrioventricular synchrony and to avoid excessive bradycardia.

In its statement, the AHA also recommends optimizing preload with right arterial pressure/central venous pressure of 8-12 mm Hg, said Dr. Baez. Preload optimization combined with afterload reduction and improved contractility are hallmarks of care for patients with RV failure.

Avoiding systemic hypotension can prevent sequelae, such as myocardial ischemia and further hypotension, he said.

Optimization of fluid status is another key to managing RV failure, said Dr. Baez. Right heart coronary perfusion pressure can be protected by maintaining mean arterial pressure, and consideration should be given to reducing the RV afterload. Other strategies include inotropic medications and rhythm stabilization.

In general, for RV failure patients, “correct hypoxia, hypercarbia, and acidosis and avoid intubation when possible,” he said. Extracorporeal membrane oxygenation (ECMO) may be an option, depending on how many mechanical ventilator settings need to be adjusted.

In a study by Dr. Baez and colleagues published in Critical Care Medicine, the authors presented a Bayesian probability model for plasma lactate and severity of illness in cases of acute pulmonary embolism. “This Bayesian model demonstrated that the combination of shock index and lactate yield superior diagnostic gains than those compare to the sPESI and lactate,” Dr. Baez said.

The care model needs to be specific to the etiology, he added. Volume management in congested pulmonary hypertension involves a “squeeze and diurese” strategy.

According to the Internet Book of Critical Care, for patients with mean arterial pressure (MAP) of 60 mm Hg, central venous pressure (CVP) of 25 mm Hg, renal perfusion pressure of 25 mm Hg, and no urine output, a vasopressor should be added to treatment, Dr. Baez said. In cases in which the MAP 75 mm Hg, the CVP is 25 mm Hg, the renal perfusion pressure is 50 mm Hg, and the patient has good urine output, vasopressors should be continued and fluid should be removed through use of a diuretic. For patients with a MAP of 75 mm Hg, a CVP of 12 mm Hg, and renal perfusion pressure of 63 mm Hg who have good urine output, the diuretic and the vasopressor should be discontinued.

Dr. Baez also reviewed several clinical studies of the utility of acute mechanical circulatory support systems for RV failure.

In two small studies involving a heart pump and a right ventricular assistive device, the 30-day survival rate was approximately 72%-73%. A study of 179 patients involving ECMO showed an in-hospital mortality rate of 38.6%, he said.

Overall, “prompt diagnosis, hemodynamic support, and initiation of specific treatment” are the foundations of managing RV failure, he concluded.

Dr. Baez disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

The exploration started in 2004 with a 62-year-old man who presented to an emergency department with acute shortness of breath, tachycardia with chest discomfort, and light-headedness, Amado Alejandro Baez, MD, said in a presentation at the 2022 scientific assembly of the American College of Emergency Physicians.

The patient arrived on day 20 after a radical cystoprostatectomy. He had driven 4 hours from another city for a urology follow-up visit. On arrival, he developed respiratory distress symptoms and presented to the emergency department, said Dr. Baez, professor of emergency medicine and epidemiology at the Medical College of Georgia/Augusta University and triple-board certified in EMS, emergency medicine, and critical care.

The patient developed a massive pulmonary embolism with acute cor pulmonale (right-sided heart failure). An electrocardiogram showed an S1Q3T3, demonstrating the distinctive nature of right ventricular failure, said Dr. Baez.

Research has demonstrated the differences in physiology between the right and left ventricles, he said.

Dr. Baez highlighted some of the features of right ventricle (RV) failure and how to manage it. Notably, the RV is thinner and less resilient. “RV failure patients may fall off the Starling curve,” in contrast to patients with isolated left ventricle (LV) failure.

RV pressure overload is associated with a range of conditions, such as pericardial disease, pulmonary embolism, acute respiratory distress syndrome, and pulmonary arterial hypertension. When combined with RV overload, patients may develop intracardiac shunting or coronary heart disease, Dr. Baez said. Decreased contractility associated with RV failure can result from sepsis, right ventricular myocardial infarction, myocarditis, and arrhythmia.

Dr. Baez cited the 2018 scientific statement from the American Heart Association on the evaluation and management of right-sided heart failure. The authors of the statement noted that the complicated geometry of the right heart makes functional assessment a challenge. They wrote that various hemodynamic and biochemical markers can help guide clinical assessment and therapeutic decision-making.

Increased RV afterload drives multiple factors that can ultimately lead to cardiogenic shock and death, said Dr. Baez. These factors include decreased RV oxygen delivery, decreased RV coronary perfusion, decreased systemic blood pressure, and low carbon monoxide levels. RV afterload also leads to decreased RV contractility, an increase in RV oxygen demand, and tension in the RV wall, and it may contribute to tricuspid valve insufficiency, neurohormonal activation, and RV ischemia.

Treatment strategies involve improving symptoms and stopping disease progression, said Baez. In its scientific statement, the AHA recommends steps for assessing RV and LV function so as to identify RV failure as soon as possible, he said. After excluding pericardial disease, the AHA advises diagnosis and treatment of etiology-specific causes, such as right ventricular MI, pulmonary embolism, and sepsis. For arrhythmias, it recommends maintaining sinus rhythm when possible and considering a pacemaker to maintain atrioventricular synchrony and to avoid excessive bradycardia.

In its statement, the AHA also recommends optimizing preload with right arterial pressure/central venous pressure of 8-12 mm Hg, said Dr. Baez. Preload optimization combined with afterload reduction and improved contractility are hallmarks of care for patients with RV failure.

Avoiding systemic hypotension can prevent sequelae, such as myocardial ischemia and further hypotension, he said.

Optimization of fluid status is another key to managing RV failure, said Dr. Baez. Right heart coronary perfusion pressure can be protected by maintaining mean arterial pressure, and consideration should be given to reducing the RV afterload. Other strategies include inotropic medications and rhythm stabilization.

In general, for RV failure patients, “correct hypoxia, hypercarbia, and acidosis and avoid intubation when possible,” he said. Extracorporeal membrane oxygenation (ECMO) may be an option, depending on how many mechanical ventilator settings need to be adjusted.

In a study by Dr. Baez and colleagues published in Critical Care Medicine, the authors presented a Bayesian probability model for plasma lactate and severity of illness in cases of acute pulmonary embolism. “This Bayesian model demonstrated that the combination of shock index and lactate yield superior diagnostic gains than those compare to the sPESI and lactate,” Dr. Baez said.

The care model needs to be specific to the etiology, he added. Volume management in congested pulmonary hypertension involves a “squeeze and diurese” strategy.

According to the Internet Book of Critical Care, for patients with mean arterial pressure (MAP) of 60 mm Hg, central venous pressure (CVP) of 25 mm Hg, renal perfusion pressure of 25 mm Hg, and no urine output, a vasopressor should be added to treatment, Dr. Baez said. In cases in which the MAP 75 mm Hg, the CVP is 25 mm Hg, the renal perfusion pressure is 50 mm Hg, and the patient has good urine output, vasopressors should be continued and fluid should be removed through use of a diuretic. For patients with a MAP of 75 mm Hg, a CVP of 12 mm Hg, and renal perfusion pressure of 63 mm Hg who have good urine output, the diuretic and the vasopressor should be discontinued.

Dr. Baez also reviewed several clinical studies of the utility of acute mechanical circulatory support systems for RV failure.

In two small studies involving a heart pump and a right ventricular assistive device, the 30-day survival rate was approximately 72%-73%. A study of 179 patients involving ECMO showed an in-hospital mortality rate of 38.6%, he said.

Overall, “prompt diagnosis, hemodynamic support, and initiation of specific treatment” are the foundations of managing RV failure, he concluded.

Dr. Baez disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

The exploration started in 2004 with a 62-year-old man who presented to an emergency department with acute shortness of breath, tachycardia with chest discomfort, and light-headedness, Amado Alejandro Baez, MD, said in a presentation at the 2022 scientific assembly of the American College of Emergency Physicians.

The patient arrived on day 20 after a radical cystoprostatectomy. He had driven 4 hours from another city for a urology follow-up visit. On arrival, he developed respiratory distress symptoms and presented to the emergency department, said Dr. Baez, professor of emergency medicine and epidemiology at the Medical College of Georgia/Augusta University and triple-board certified in EMS, emergency medicine, and critical care.

The patient developed a massive pulmonary embolism with acute cor pulmonale (right-sided heart failure). An electrocardiogram showed an S1Q3T3, demonstrating the distinctive nature of right ventricular failure, said Dr. Baez.

Research has demonstrated the differences in physiology between the right and left ventricles, he said.

Dr. Baez highlighted some of the features of right ventricle (RV) failure and how to manage it. Notably, the RV is thinner and less resilient. “RV failure patients may fall off the Starling curve,” in contrast to patients with isolated left ventricle (LV) failure.

RV pressure overload is associated with a range of conditions, such as pericardial disease, pulmonary embolism, acute respiratory distress syndrome, and pulmonary arterial hypertension. When combined with RV overload, patients may develop intracardiac shunting or coronary heart disease, Dr. Baez said. Decreased contractility associated with RV failure can result from sepsis, right ventricular myocardial infarction, myocarditis, and arrhythmia.

Dr. Baez cited the 2018 scientific statement from the American Heart Association on the evaluation and management of right-sided heart failure. The authors of the statement noted that the complicated geometry of the right heart makes functional assessment a challenge. They wrote that various hemodynamic and biochemical markers can help guide clinical assessment and therapeutic decision-making.

Increased RV afterload drives multiple factors that can ultimately lead to cardiogenic shock and death, said Dr. Baez. These factors include decreased RV oxygen delivery, decreased RV coronary perfusion, decreased systemic blood pressure, and low carbon monoxide levels. RV afterload also leads to decreased RV contractility, an increase in RV oxygen demand, and tension in the RV wall, and it may contribute to tricuspid valve insufficiency, neurohormonal activation, and RV ischemia.

Treatment strategies involve improving symptoms and stopping disease progression, said Baez. In its scientific statement, the AHA recommends steps for assessing RV and LV function so as to identify RV failure as soon as possible, he said. After excluding pericardial disease, the AHA advises diagnosis and treatment of etiology-specific causes, such as right ventricular MI, pulmonary embolism, and sepsis. For arrhythmias, it recommends maintaining sinus rhythm when possible and considering a pacemaker to maintain atrioventricular synchrony and to avoid excessive bradycardia.

In its statement, the AHA also recommends optimizing preload with right arterial pressure/central venous pressure of 8-12 mm Hg, said Dr. Baez. Preload optimization combined with afterload reduction and improved contractility are hallmarks of care for patients with RV failure.

Avoiding systemic hypotension can prevent sequelae, such as myocardial ischemia and further hypotension, he said.

Optimization of fluid status is another key to managing RV failure, said Dr. Baez. Right heart coronary perfusion pressure can be protected by maintaining mean arterial pressure, and consideration should be given to reducing the RV afterload. Other strategies include inotropic medications and rhythm stabilization.

In general, for RV failure patients, “correct hypoxia, hypercarbia, and acidosis and avoid intubation when possible,” he said. Extracorporeal membrane oxygenation (ECMO) may be an option, depending on how many mechanical ventilator settings need to be adjusted.

In a study by Dr. Baez and colleagues published in Critical Care Medicine, the authors presented a Bayesian probability model for plasma lactate and severity of illness in cases of acute pulmonary embolism. “This Bayesian model demonstrated that the combination of shock index and lactate yield superior diagnostic gains than those compare to the sPESI and lactate,” Dr. Baez said.

The care model needs to be specific to the etiology, he added. Volume management in congested pulmonary hypertension involves a “squeeze and diurese” strategy.

According to the Internet Book of Critical Care, for patients with mean arterial pressure (MAP) of 60 mm Hg, central venous pressure (CVP) of 25 mm Hg, renal perfusion pressure of 25 mm Hg, and no urine output, a vasopressor should be added to treatment, Dr. Baez said. In cases in which the MAP 75 mm Hg, the CVP is 25 mm Hg, the renal perfusion pressure is 50 mm Hg, and the patient has good urine output, vasopressors should be continued and fluid should be removed through use of a diuretic. For patients with a MAP of 75 mm Hg, a CVP of 12 mm Hg, and renal perfusion pressure of 63 mm Hg who have good urine output, the diuretic and the vasopressor should be discontinued.

Dr. Baez also reviewed several clinical studies of the utility of acute mechanical circulatory support systems for RV failure.

In two small studies involving a heart pump and a right ventricular assistive device, the 30-day survival rate was approximately 72%-73%. A study of 179 patients involving ECMO showed an in-hospital mortality rate of 38.6%, he said.

Overall, “prompt diagnosis, hemodynamic support, and initiation of specific treatment” are the foundations of managing RV failure, he concluded.

Dr. Baez disclosed no relevant financial relationships.

A version of this article first appeared on Medscape.com.

Nearly 6 million Americans have taken Paxlovid for free, courtesy of the federal government. The Pfizer pill has helped prevent many people infected with COVID-19 from being hospitalized or dying, and it may even reduce the risk of developing long COVID. But the government plans to stop footing the bill within months, and millions of people who are at the highest risk of severe illness and are least able to afford the drug – the uninsured and seniors – may have to pay the full price.

And that means fewer people will get the potentially lifesaving treatments, experts said.

“I think the numbers will go way down,” said Jill Rosenthal, director of public health policy at the Center for American Progress, a left-leaning think tank. A bill for several hundred dollars or more would lead many people to decide the medication isn’t worth the price, she said.

In response to the unprecedented public health crisis caused by COVID, the federal government spent billions of dollars on developing new vaccines and treatments, to swift success: Less than a year after the pandemic was declared, medical workers got their first vaccines. But as many people have refused the shots and stopped wearing masks, the virus still rages and mutates. In 2022 alone, 250,000 Americans have died from COVID, more than from strokes or diabetes.

But soon the Department of Health & Human Services will stop supplying COVID treatments, and pharmacies will purchase and bill for them the same way they do for antibiotic pills or asthma inhalers. Paxlovid is expected to hit the private market in mid-2023, according to HHS plans shared in an October meeting with state health officials and clinicians. Merck’s Lagevrio, a less-effective COVID treatment pill, and AstraZeneca’s Evusheld, a preventive therapy for the immunocompromised, are on track to be commercialized sooner, sometime in the winter.

The U.S. government has so far purchased 20 million courses of Paxlovid, priced at about $530 each, a discount for buying in bulk that Pfizer CEO Albert Bourla called “really very attractive” to the federal government in a July earnings call. The drug will cost far more on the private market, although in a statement to Kaiser Health News, Pfizer declined to share the planned price. The government will also stop paying for the company’s COVID vaccine next year – those shots will quadruple in price, from the discount rate the government pays of $30 to about $120.

Mr. Bourla told investors in November that he expects the move will make Paxlovid and its COVID vaccine “a multibillion-dollars franchise.”

Nearly 9 in 10 people dying from the virus now are 65 or older. Yet federal law restricts Medicare Part D – the prescription drug program that covers nearly 50 million seniors – from covering the COVID treatment pills. The medications are meant for those most at risk of serious illness, including seniors.

Paxlovid and the other treatments are currently available under an emergency use authorization from the FDA, a fast-track review used in extraordinary situations. Although Pfizer applied for full approval in June, the process can take anywhere from several months to years. And Medicare Part D can’t cover any medications without that full stamp of approval.

Paying out-of-pocket would be “a substantial barrier” for seniors on Medicare – the very people who would benefit most from the drug, wrote federal health experts.

“From a public health perspective, and even from a health care capacity and cost perspective, it would just defy reason to not continue to make these drugs readily available,” said Dr. Larry Madoff, medical director of Massachusetts’s Bureau of Infectious Disease and Laboratory Sciences. He’s hopeful that the federal health agency will find a way to set aside unused doses for seniors and people without insurance.

In mid-November, the White House requested that Congress approve an additional $2.5 billion for COVID therapeutics and vaccines to make sure people can afford the medications when they’re no longer free. But there’s little hope it will be approved – the Senate voted that same day to end the public health emergency and denied similar requests in recent months.

Many Americans have already faced hurdles just getting a prescription for COVID treatment. Although the federal government doesn’t track who’s gotten the drug, a Centers for Disease Control and Prevention study using data from 30 medical centers found that Black and Hispanic patients with COVID were much less likely to receive Paxlovid than White patients. (Hispanic people can be of any race or combination of races.) And when the government is no longer picking up the tab, experts predict that these gaps by race, income, and geography will widen.

People in Northeastern states used the drug far more often than those in the rest of the country, according to a KHN analysis of Paxlovid use in September and October. But it wasn’t because people in the region were getting sick from COVID at much higher rates – instead, many of those states offered better access to health care to begin with and created special programs to get Paxlovid to their residents.

About 10 mostly Democratic states and several large counties in the Northeast and elsewhere created free “test-to-treat” programs that allow their residents to get an immediate doctor visit and prescription for treatment after testing positive for COVID. In Massachusetts, more than 20,000 residents have used the state’s video and phone hotline, which is available 7 days a week in 13 languages. Massachusetts, which has the highest insurance rate in the country and relatively low travel times to pharmacies, had the second-highest Paxlovid usage rate among states this fall.

States with higher COVID death rates, like Florida and Kentucky, where residents must travel farther for health care and are more likely to be uninsured, used the drug less often. Without no-cost test-to-treat options, residents have struggled to get prescriptions even though the drug itself is still free.

“If you look at access to medications for people who are uninsured, I think that there’s no question that will widen those disparities,” Ms. Rosenthal said.

People who get insurance through their jobs could face high copays at the register, too, just as they do for insulin and other expensive or brand-name drugs.

Most private insurance companies will end up covering COVID therapeutics to some extent, said Sabrina Corlette, a research professor at Georgetown University’s Center on Health Insurance Reforms. After all, the pills are cheaper than a hospital stay. But for most people who get insurance through their jobs, there are “really no rules at all,” she said. Some insurers could take months to add the drugs to their plans or decide not to pay for them.

And the additional cost means many people will go without the medication. “We know from lots of research that when people face cost sharing for these drugs that they need to take, they will often forgo or cut back,” Ms. Corlette said.

One group doesn’t need to worry about sticker shock. Medicaid, the public insurance program for low-income adults and children, will cover the treatments in full until at least early 2024.

HHS officials could set aside any leftover taxpayer-funded medication for people who can’t afford to pay the full cost, but they haven’t shared any concrete plans to do so. The government purchased 20 million courses of Paxlovid and 3 million of Lagevrio. Fewer than a third have been used, and usage has fallen in recent months, according to KHN’s analysis of the data from HHS.

Sixty percent of the government’s supply of Evusheld is also still available, although the COVID prevention therapy is less effective against new strains of the virus. The health department in one state, New Mexico, has recommended against using it.

HHS did not make officials available for an interview or answer written questions about the commercialization plans.

The government created a potential workaround when they moved bebtelovimab, another COVID treatment, to the private market this summer. It now retails for $2,100 per patient. The agency set aside the remaining 60,000 government-purchased doses that hospitals could use to treat uninsured patients in a convoluted dose-replacement process. But it’s hard to tell how well that setup would work for Paxlovid: Bebtelovimab was already much less popular, and the FDA halted its use on Nov. 30 because it’s less effective against current strains of the virus.

Federal officials and insurance companies would have good reason to make sure patients can continue to afford COVID drugs: They’re far cheaper than if patients land in the emergency room.

“The medications are so worthwhile,” said Dr. Madoff, the Massachusetts health official. “They’re not expensive in the grand scheme of health care costs.”

KHN (Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs at KFF (Kaiser Family Foundation). KFF is an endowed nonprofit organization providing information on health issues to the nation.

Nearly 6 million Americans have taken Paxlovid for free, courtesy of the federal government. The Pfizer pill has helped prevent many people infected with COVID-19 from being hospitalized or dying, and it may even reduce the risk of developing long COVID. But the government plans to stop footing the bill within months, and millions of people who are at the highest risk of severe illness and are least able to afford the drug – the uninsured and seniors – may have to pay the full price.

And that means fewer people will get the potentially lifesaving treatments, experts said.

“I think the numbers will go way down,” said Jill Rosenthal, director of public health policy at the Center for American Progress, a left-leaning think tank. A bill for several hundred dollars or more would lead many people to decide the medication isn’t worth the price, she said.

In response to the unprecedented public health crisis caused by COVID, the federal government spent billions of dollars on developing new vaccines and treatments, to swift success: Less than a year after the pandemic was declared, medical workers got their first vaccines. But as many people have refused the shots and stopped wearing masks, the virus still rages and mutates. In 2022 alone, 250,000 Americans have died from COVID, more than from strokes or diabetes.

But soon the Department of Health & Human Services will stop supplying COVID treatments, and pharmacies will purchase and bill for them the same way they do for antibiotic pills or asthma inhalers. Paxlovid is expected to hit the private market in mid-2023, according to HHS plans shared in an October meeting with state health officials and clinicians. Merck’s Lagevrio, a less-effective COVID treatment pill, and AstraZeneca’s Evusheld, a preventive therapy for the immunocompromised, are on track to be commercialized sooner, sometime in the winter.

The U.S. government has so far purchased 20 million courses of Paxlovid, priced at about $530 each, a discount for buying in bulk that Pfizer CEO Albert Bourla called “really very attractive” to the federal government in a July earnings call. The drug will cost far more on the private market, although in a statement to Kaiser Health News, Pfizer declined to share the planned price. The government will also stop paying for the company’s COVID vaccine next year – those shots will quadruple in price, from the discount rate the government pays of $30 to about $120.

Mr. Bourla told investors in November that he expects the move will make Paxlovid and its COVID vaccine “a multibillion-dollars franchise.”

Nearly 9 in 10 people dying from the virus now are 65 or older. Yet federal law restricts Medicare Part D – the prescription drug program that covers nearly 50 million seniors – from covering the COVID treatment pills. The medications are meant for those most at risk of serious illness, including seniors.

Paxlovid and the other treatments are currently available under an emergency use authorization from the FDA, a fast-track review used in extraordinary situations. Although Pfizer applied for full approval in June, the process can take anywhere from several months to years. And Medicare Part D can’t cover any medications without that full stamp of approval.

Paying out-of-pocket would be “a substantial barrier” for seniors on Medicare – the very people who would benefit most from the drug, wrote federal health experts.

“From a public health perspective, and even from a health care capacity and cost perspective, it would just defy reason to not continue to make these drugs readily available,” said Dr. Larry Madoff, medical director of Massachusetts’s Bureau of Infectious Disease and Laboratory Sciences. He’s hopeful that the federal health agency will find a way to set aside unused doses for seniors and people without insurance.

In mid-November, the White House requested that Congress approve an additional $2.5 billion for COVID therapeutics and vaccines to make sure people can afford the medications when they’re no longer free. But there’s little hope it will be approved – the Senate voted that same day to end the public health emergency and denied similar requests in recent months.

Many Americans have already faced hurdles just getting a prescription for COVID treatment. Although the federal government doesn’t track who’s gotten the drug, a Centers for Disease Control and Prevention study using data from 30 medical centers found that Black and Hispanic patients with COVID were much less likely to receive Paxlovid than White patients. (Hispanic people can be of any race or combination of races.) And when the government is no longer picking up the tab, experts predict that these gaps by race, income, and geography will widen.

People in Northeastern states used the drug far more often than those in the rest of the country, according to a KHN analysis of Paxlovid use in September and October. But it wasn’t because people in the region were getting sick from COVID at much higher rates – instead, many of those states offered better access to health care to begin with and created special programs to get Paxlovid to their residents.

About 10 mostly Democratic states and several large counties in the Northeast and elsewhere created free “test-to-treat” programs that allow their residents to get an immediate doctor visit and prescription for treatment after testing positive for COVID. In Massachusetts, more than 20,000 residents have used the state’s video and phone hotline, which is available 7 days a week in 13 languages. Massachusetts, which has the highest insurance rate in the country and relatively low travel times to pharmacies, had the second-highest Paxlovid usage rate among states this fall.

States with higher COVID death rates, like Florida and Kentucky, where residents must travel farther for health care and are more likely to be uninsured, used the drug less often. Without no-cost test-to-treat options, residents have struggled to get prescriptions even though the drug itself is still free.

“If you look at access to medications for people who are uninsured, I think that there’s no question that will widen those disparities,” Ms. Rosenthal said.

People who get insurance through their jobs could face high copays at the register, too, just as they do for insulin and other expensive or brand-name drugs.

Most private insurance companies will end up covering COVID therapeutics to some extent, said Sabrina Corlette, a research professor at Georgetown University’s Center on Health Insurance Reforms. After all, the pills are cheaper than a hospital stay. But for most people who get insurance through their jobs, there are “really no rules at all,” she said. Some insurers could take months to add the drugs to their plans or decide not to pay for them.

And the additional cost means many people will go without the medication. “We know from lots of research that when people face cost sharing for these drugs that they need to take, they will often forgo or cut back,” Ms. Corlette said.

One group doesn’t need to worry about sticker shock. Medicaid, the public insurance program for low-income adults and children, will cover the treatments in full until at least early 2024.

HHS officials could set aside any leftover taxpayer-funded medication for people who can’t afford to pay the full cost, but they haven’t shared any concrete plans to do so. The government purchased 20 million courses of Paxlovid and 3 million of Lagevrio. Fewer than a third have been used, and usage has fallen in recent months, according to KHN’s analysis of the data from HHS.

Sixty percent of the government’s supply of Evusheld is also still available, although the COVID prevention therapy is less effective against new strains of the virus. The health department in one state, New Mexico, has recommended against using it.

HHS did not make officials available for an interview or answer written questions about the commercialization plans.

The government created a potential workaround when they moved bebtelovimab, another COVID treatment, to the private market this summer. It now retails for $2,100 per patient. The agency set aside the remaining 60,000 government-purchased doses that hospitals could use to treat uninsured patients in a convoluted dose-replacement process. But it’s hard to tell how well that setup would work for Paxlovid: Bebtelovimab was already much less popular, and the FDA halted its use on Nov. 30 because it’s less effective against current strains of the virus.

Federal officials and insurance companies would have good reason to make sure patients can continue to afford COVID drugs: They’re far cheaper than if patients land in the emergency room.

“The medications are so worthwhile,” said Dr. Madoff, the Massachusetts health official. “They’re not expensive in the grand scheme of health care costs.”

KHN (Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs at KFF (Kaiser Family Foundation). KFF is an endowed nonprofit organization providing information on health issues to the nation.

Nearly 6 million Americans have taken Paxlovid for free, courtesy of the federal government. The Pfizer pill has helped prevent many people infected with COVID-19 from being hospitalized or dying, and it may even reduce the risk of developing long COVID. But the government plans to stop footing the bill within months, and millions of people who are at the highest risk of severe illness and are least able to afford the drug – the uninsured and seniors – may have to pay the full price.

And that means fewer people will get the potentially lifesaving treatments, experts said.

“I think the numbers will go way down,” said Jill Rosenthal, director of public health policy at the Center for American Progress, a left-leaning think tank. A bill for several hundred dollars or more would lead many people to decide the medication isn’t worth the price, she said.

In response to the unprecedented public health crisis caused by COVID, the federal government spent billions of dollars on developing new vaccines and treatments, to swift success: Less than a year after the pandemic was declared, medical workers got their first vaccines. But as many people have refused the shots and stopped wearing masks, the virus still rages and mutates. In 2022 alone, 250,000 Americans have died from COVID, more than from strokes or diabetes.

But soon the Department of Health & Human Services will stop supplying COVID treatments, and pharmacies will purchase and bill for them the same way they do for antibiotic pills or asthma inhalers. Paxlovid is expected to hit the private market in mid-2023, according to HHS plans shared in an October meeting with state health officials and clinicians. Merck’s Lagevrio, a less-effective COVID treatment pill, and AstraZeneca’s Evusheld, a preventive therapy for the immunocompromised, are on track to be commercialized sooner, sometime in the winter.

The U.S. government has so far purchased 20 million courses of Paxlovid, priced at about $530 each, a discount for buying in bulk that Pfizer CEO Albert Bourla called “really very attractive” to the federal government in a July earnings call. The drug will cost far more on the private market, although in a statement to Kaiser Health News, Pfizer declined to share the planned price. The government will also stop paying for the company’s COVID vaccine next year – those shots will quadruple in price, from the discount rate the government pays of $30 to about $120.

Mr. Bourla told investors in November that he expects the move will make Paxlovid and its COVID vaccine “a multibillion-dollars franchise.”

Nearly 9 in 10 people dying from the virus now are 65 or older. Yet federal law restricts Medicare Part D – the prescription drug program that covers nearly 50 million seniors – from covering the COVID treatment pills. The medications are meant for those most at risk of serious illness, including seniors.

Paxlovid and the other treatments are currently available under an emergency use authorization from the FDA, a fast-track review used in extraordinary situations. Although Pfizer applied for full approval in June, the process can take anywhere from several months to years. And Medicare Part D can’t cover any medications without that full stamp of approval.

Paying out-of-pocket would be “a substantial barrier” for seniors on Medicare – the very people who would benefit most from the drug, wrote federal health experts.

“From a public health perspective, and even from a health care capacity and cost perspective, it would just defy reason to not continue to make these drugs readily available,” said Dr. Larry Madoff, medical director of Massachusetts’s Bureau of Infectious Disease and Laboratory Sciences. He’s hopeful that the federal health agency will find a way to set aside unused doses for seniors and people without insurance.

In mid-November, the White House requested that Congress approve an additional $2.5 billion for COVID therapeutics and vaccines to make sure people can afford the medications when they’re no longer free. But there’s little hope it will be approved – the Senate voted that same day to end the public health emergency and denied similar requests in recent months.

Many Americans have already faced hurdles just getting a prescription for COVID treatment. Although the federal government doesn’t track who’s gotten the drug, a Centers for Disease Control and Prevention study using data from 30 medical centers found that Black and Hispanic patients with COVID were much less likely to receive Paxlovid than White patients. (Hispanic people can be of any race or combination of races.) And when the government is no longer picking up the tab, experts predict that these gaps by race, income, and geography will widen.

People in Northeastern states used the drug far more often than those in the rest of the country, according to a KHN analysis of Paxlovid use in September and October. But it wasn’t because people in the region were getting sick from COVID at much higher rates – instead, many of those states offered better access to health care to begin with and created special programs to get Paxlovid to their residents.

About 10 mostly Democratic states and several large counties in the Northeast and elsewhere created free “test-to-treat” programs that allow their residents to get an immediate doctor visit and prescription for treatment after testing positive for COVID. In Massachusetts, more than 20,000 residents have used the state’s video and phone hotline, which is available 7 days a week in 13 languages. Massachusetts, which has the highest insurance rate in the country and relatively low travel times to pharmacies, had the second-highest Paxlovid usage rate among states this fall.

States with higher COVID death rates, like Florida and Kentucky, where residents must travel farther for health care and are more likely to be uninsured, used the drug less often. Without no-cost test-to-treat options, residents have struggled to get prescriptions even though the drug itself is still free.

“If you look at access to medications for people who are uninsured, I think that there’s no question that will widen those disparities,” Ms. Rosenthal said.

People who get insurance through their jobs could face high copays at the register, too, just as they do for insulin and other expensive or brand-name drugs.

Most private insurance companies will end up covering COVID therapeutics to some extent, said Sabrina Corlette, a research professor at Georgetown University’s Center on Health Insurance Reforms. After all, the pills are cheaper than a hospital stay. But for most people who get insurance through their jobs, there are “really no rules at all,” she said. Some insurers could take months to add the drugs to their plans or decide not to pay for them.

And the additional cost means many people will go without the medication. “We know from lots of research that when people face cost sharing for these drugs that they need to take, they will often forgo or cut back,” Ms. Corlette said.

One group doesn’t need to worry about sticker shock. Medicaid, the public insurance program for low-income adults and children, will cover the treatments in full until at least early 2024.

HHS officials could set aside any leftover taxpayer-funded medication for people who can’t afford to pay the full cost, but they haven’t shared any concrete plans to do so. The government purchased 20 million courses of Paxlovid and 3 million of Lagevrio. Fewer than a third have been used, and usage has fallen in recent months, according to KHN’s analysis of the data from HHS.

Sixty percent of the government’s supply of Evusheld is also still available, although the COVID prevention therapy is less effective against new strains of the virus. The health department in one state, New Mexico, has recommended against using it.

HHS did not make officials available for an interview or answer written questions about the commercialization plans.

The government created a potential workaround when they moved bebtelovimab, another COVID treatment, to the private market this summer. It now retails for $2,100 per patient. The agency set aside the remaining 60,000 government-purchased doses that hospitals could use to treat uninsured patients in a convoluted dose-replacement process. But it’s hard to tell how well that setup would work for Paxlovid: Bebtelovimab was already much less popular, and the FDA halted its use on Nov. 30 because it’s less effective against current strains of the virus.

Federal officials and insurance companies would have good reason to make sure patients can continue to afford COVID drugs: They’re far cheaper than if patients land in the emergency room.

“The medications are so worthwhile,” said Dr. Madoff, the Massachusetts health official. “They’re not expensive in the grand scheme of health care costs.”

KHN (Kaiser Health News) is a national newsroom that produces in-depth journalism about health issues. Together with Policy Analysis and Polling, KHN is one of the three major operating programs at KFF (Kaiser Family Foundation). KFF is an endowed nonprofit organization providing information on health issues to the nation.

These should be the best of times for geriatric medicine.

The baby boom has become a senior surge, bringing in a rapidly growing pool of aging patients for geriatricians to treat. According to the U.S. Census Bureau, more than 56 million adults aged 65 and older live in the United States. They account for about 17% of the nation’s population. That number is expected to hit 73 million by 2030 and 86 million by 2050.

The American Geriatrics Society estimates that 30% of older people require the attention of geriatricians. These clinicians excel in managing complex cases – patients with multiple comorbidities, such as coronary artery disease, dementia, and osteoporosis, who are taking a half dozen, and often more, medications.

But instead of thriving, geriatrics as a medical specialty appears to be hobbling. In the 2010s, geriatricians called for “25,000 [such specialists] by 2025.” As of 2021, 7123 certified geriatricians were practicing in the United States, according to the American Board of Medical Specialties.

The Health Resources and Services Administration, a federal agency that addresses medical workforce shortages, estimates that there will be 6,230 geriatricians by 2025, or approximately 1 for every 3,000 older adults requiring geriatric care. HRSA projects a shortage of 27,000 geriatricians by 2025.

The specialty has faced an uphill battle to attract fellows. This year, only 43% of the nation’s 177 geriatrics fellowship slots were filled, according to November’s National Resident Match Program report. Family medicine–based geriatrics achieved only a 32% fill rate, while internal medicine–based programs saw a rate of 45%.

“Our numbers are shrinking so we need another approach to make sure older adults get the care they need and deserve,” said G. Michael Harper, MD, president of the 6,000-member AGS.

But Dr. Harper, who practices at the University of California, San Francisco, and the San Francisco VA Medical Center, added a positive note: “We may be struggling to increase the number of board-certified geriatricians, but the field itself has made a lot of progress in terms of improving clinical care through advancements in science and in the ways we deliver care.”

Dr. Harper cited the Hospital Elder Life Program, a hospital model developed at the Harvard-affiliated Marcus Institute for Aging Research, which uses an interprofessional team and trained volunteers to prevent delirium and functional decline. HELP has been adopted by more than 200 hospitals worldwide and has been successful at returning older adults to their homes or previous living situations with maintained or improved ability to function, he said.

Mark Supiano, MD, professor and chief of geriatrics at the University of Utah, Salt Lake City, said the specialty has been in shortage mode since ABMS recognized it in 1988. He was in the initial cohort of fellowship-trained geriatricians, sitting for the first certifying exam in geriatrics offered that year.

“Back then, the demographic imperative of the aging of our society was on the horizon. We’re living it now. I knew enough to recognize it was coming and saw an opportunity,” Dr. Supiano said in an interview. “There was so much then that we didn’t know about how to understand aging or how to care for older adults that there really was such a knowledge gap.”

Dr. Supiano is an associate editor of Hazzard’s Geriatric Medicine and Gerontology (McGraw-Hill Education), which has more than doubled in pages and word count during his career.
 

Unfavorable finances

Katherine Thompson, MD, director of the geriatrics fellowship program at the University of Chicago and codirector of UChicago’s Successful Aging and Frailty Evaluation Clinic, said money is a major reason for the struggle. “I think probably the biggest driver is financial,” she said. “A lot of people are graduating medical school with really astronomical amounts of medical school loans.”

Geriatricians, like other doctors, carry a large debt – $200,000, on average, not counting undergraduate debt, according to the Association of American Medical Colleges.

But the typical geriatrician earns less than an internist or family medicine doctor who doesn’t undergo the additional year of training, Dr. Thompson said. “There’s not a lot of financial motivation to do this fellowship,” she said.

The jobs website Zippia reports that geriatricians earned roughly $165,000 per year on average in 2022. The average annual incomes in 2022 were $191,000 for pediatricians, $215,000 for family physicians, and $223,000 for internists, according to the site.

In other words, Dr. Harper said, “geriatrics is one of the few professions where you can actually do additional training and make less money.”

The reason for the pay issue is simple: Geriatricians treat patients covered by Medicare, whose reimbursement schedules lag behind those of commercial insurers. The Kaiser Family Foundation reported in 2020 that private insurance paid 143% of Medicare rates on average for physician services.

Dr. Harper said overall compensation for geriatricians has “not gained a lot of traction,” but they can earn comfortable livings.

Still, representation of the specialty on the American Medical Association’s Relative Value Scale Update Committee has led to approval by the Centers for Medicare & Medicaid Services of billing codes that pay geriatricians “for what they do. Examples include chronic care management, advance care planning, and dementia evaluation,” he said.

But the geriatrician gap goes beyond money.

Ageism, too, may play a role in residents not choosing geriatrics.

“Our culture is ageist. It definitely focuses on youth and looks at aging as being loss rather than just a change in what works well and what doesn’t work well,” said Mary Tinetti, MD, a geriatrician and researcher at Yale University, New Haven, Conn. “Ageism happens among physicians, just because they’re part of the broader society.”
 

Time for a new goal?

Dr. Tinetti said she’s optimistic that new ideas about geriatricians teaching other primary care clinicians about the tenets of geriatric medicine, which offer a wholistic approach to comorbidities, such as diabetes, atrial fibrillation, dementia, hypertension, hyperlipidemia, and polypharmacy problems faced by this population, especially those 85 and older.

She has called on her profession to abandon the goal of increasing the numbers of board-certified geriatricians – whom she refers to as big “G” geriatricians. She instead wants to develop a “small, elite workforce” that discovers and tests geriatrics principles through research, teaches these principles to all healthcare professions and to the public, and disseminates and implements the policies.

“We need a cadre of geriatricians who train all other clinicians in the care of older adults,” Dr. Tinetti said. “The goal is not more geriatricians but rather the preparation of all clinicians in the care of older adults.”

Dr. Thompson said geriatricians are teaching primary care specialists, nurses, social workers, and other health care providers the principles of age-friendly care. AGS has for the past 20 years led a program called the Geriatrics for Specialists Initiative to increase geriatrics knowledge and expertise of surgical and medical specialists.

Some specialties have taken the cue and have added geriatrics-related hyphens through additional training: geriatric-emergency, geriatric-general surgery, geriatric-hospitalists, and more.

HRSA runs programs to encourage physicians to train as geriatricians and geriatrics faculty, and it encourages the geriatrics interdisciplinary team approach.

Richard Olague, director of public affairs for HRSA, said his agency has invested over $160 million over the past 4 years in the education and training of geriatricians and other health care professionals who care for the elderly through its Geriatrics Workforce Enhancement Program and Geriatrics Academic Career Awards Program. In the academic year 2020-2021, the two programs trained 109 geriatricians; 456 other geriatric/gerontology providers and students; 44,450 other healthcare workforce professionals and students; and served 17,666 patients and 5,409 caregivers.

Dr. Harper, like his fellow geriatricians, tells young doctors that geriatrics is a fulfilling specialty.

“I get to care for the whole person and sometimes their families, too, and in the process form rich and meaningful relationships. And while I’m rarely in the position to cure, I always have the ability to care,” he said. “Sometimes that can mean being an advocate trying to make sure my patients receive the care they need, and other times it might mean protecting them from burdensome care that is unlikely to lead to any meaningful benefit. There is great reward in all of that.”

Dr. Supiano said geriatric patients are being helped by the Age-Friendly Health System initiative of the John A. Hartford Foundation and the Institute for Healthcare Improvement in partnership with the American Hospital Association and the Catholic Health Association of the United States. This is sort of a seal of approval for facilities committed to age-friendly care.

“When you go to your hospital, if they don’t have this age-friendly health system banner on the front door ... you either ask why that is not there, or you vote with your feet and go to another health system that is age friendly,” he said. “Geriatricians are eternal optimists.”

A version of this article first appeared on Medscape.com.

These should be the best of times for geriatric medicine.

The baby boom has become a senior surge, bringing in a rapidly growing pool of aging patients for geriatricians to treat. According to the U.S. Census Bureau, more than 56 million adults aged 65 and older live in the United States. They account for about 17% of the nation’s population. That number is expected to hit 73 million by 2030 and 86 million by 2050.

The American Geriatrics Society estimates that 30% of older people require the attention of geriatricians. These clinicians excel in managing complex cases – patients with multiple comorbidities, such as coronary artery disease, dementia, and osteoporosis, who are taking a half dozen, and often more, medications.

But instead of thriving, geriatrics as a medical specialty appears to be hobbling. In the 2010s, geriatricians called for “25,000 [such specialists] by 2025.” As of 2021, 7123 certified geriatricians were practicing in the United States, according to the American Board of Medical Specialties.

The Health Resources and Services Administration, a federal agency that addresses medical workforce shortages, estimates that there will be 6,230 geriatricians by 2025, or approximately 1 for every 3,000 older adults requiring geriatric care. HRSA projects a shortage of 27,000 geriatricians by 2025.

The specialty has faced an uphill battle to attract fellows. This year, only 43% of the nation’s 177 geriatrics fellowship slots were filled, according to November’s National Resident Match Program report. Family medicine–based geriatrics achieved only a 32% fill rate, while internal medicine–based programs saw a rate of 45%.

“Our numbers are shrinking so we need another approach to make sure older adults get the care they need and deserve,” said G. Michael Harper, MD, president of the 6,000-member AGS.

But Dr. Harper, who practices at the University of California, San Francisco, and the San Francisco VA Medical Center, added a positive note: “We may be struggling to increase the number of board-certified geriatricians, but the field itself has made a lot of progress in terms of improving clinical care through advancements in science and in the ways we deliver care.”

Dr. Harper cited the Hospital Elder Life Program, a hospital model developed at the Harvard-affiliated Marcus Institute for Aging Research, which uses an interprofessional team and trained volunteers to prevent delirium and functional decline. HELP has been adopted by more than 200 hospitals worldwide and has been successful at returning older adults to their homes or previous living situations with maintained or improved ability to function, he said.

Mark Supiano, MD, professor and chief of geriatrics at the University of Utah, Salt Lake City, said the specialty has been in shortage mode since ABMS recognized it in 1988. He was in the initial cohort of fellowship-trained geriatricians, sitting for the first certifying exam in geriatrics offered that year.

“Back then, the demographic imperative of the aging of our society was on the horizon. We’re living it now. I knew enough to recognize it was coming and saw an opportunity,” Dr. Supiano said in an interview. “There was so much then that we didn’t know about how to understand aging or how to care for older adults that there really was such a knowledge gap.”

Dr. Supiano is an associate editor of Hazzard’s Geriatric Medicine and Gerontology (McGraw-Hill Education), which has more than doubled in pages and word count during his career.
 

Unfavorable finances

Katherine Thompson, MD, director of the geriatrics fellowship program at the University of Chicago and codirector of UChicago’s Successful Aging and Frailty Evaluation Clinic, said money is a major reason for the struggle. “I think probably the biggest driver is financial,” she said. “A lot of people are graduating medical school with really astronomical amounts of medical school loans.”

Geriatricians, like other doctors, carry a large debt – $200,000, on average, not counting undergraduate debt, according to the Association of American Medical Colleges.

But the typical geriatrician earns less than an internist or family medicine doctor who doesn’t undergo the additional year of training, Dr. Thompson said. “There’s not a lot of financial motivation to do this fellowship,” she said.

The jobs website Zippia reports that geriatricians earned roughly $165,000 per year on average in 2022. The average annual incomes in 2022 were $191,000 for pediatricians, $215,000 for family physicians, and $223,000 for internists, according to the site.

In other words, Dr. Harper said, “geriatrics is one of the few professions where you can actually do additional training and make less money.”

The reason for the pay issue is simple: Geriatricians treat patients covered by Medicare, whose reimbursement schedules lag behind those of commercial insurers. The Kaiser Family Foundation reported in 2020 that private insurance paid 143% of Medicare rates on average for physician services.

Dr. Harper said overall compensation for geriatricians has “not gained a lot of traction,” but they can earn comfortable livings.

Still, representation of the specialty on the American Medical Association’s Relative Value Scale Update Committee has led to approval by the Centers for Medicare & Medicaid Services of billing codes that pay geriatricians “for what they do. Examples include chronic care management, advance care planning, and dementia evaluation,” he said.

But the geriatrician gap goes beyond money.

Ageism, too, may play a role in residents not choosing geriatrics.

“Our culture is ageist. It definitely focuses on youth and looks at aging as being loss rather than just a change in what works well and what doesn’t work well,” said Mary Tinetti, MD, a geriatrician and researcher at Yale University, New Haven, Conn. “Ageism happens among physicians, just because they’re part of the broader society.”
 

Time for a new goal?

Dr. Tinetti said she’s optimistic that new ideas about geriatricians teaching other primary care clinicians about the tenets of geriatric medicine, which offer a wholistic approach to comorbidities, such as diabetes, atrial fibrillation, dementia, hypertension, hyperlipidemia, and polypharmacy problems faced by this population, especially those 85 and older.

She has called on her profession to abandon the goal of increasing the numbers of board-certified geriatricians – whom she refers to as big “G” geriatricians. She instead wants to develop a “small, elite workforce” that discovers and tests geriatrics principles through research, teaches these principles to all healthcare professions and to the public, and disseminates and implements the policies.

“We need a cadre of geriatricians who train all other clinicians in the care of older adults,” Dr. Tinetti said. “The goal is not more geriatricians but rather the preparation of all clinicians in the care of older adults.”

Dr. Thompson said geriatricians are teaching primary care specialists, nurses, social workers, and other health care providers the principles of age-friendly care. AGS has for the past 20 years led a program called the Geriatrics for Specialists Initiative to increase geriatrics knowledge and expertise of surgical and medical specialists.

Some specialties have taken the cue and have added geriatrics-related hyphens through additional training: geriatric-emergency, geriatric-general surgery, geriatric-hospitalists, and more.

HRSA runs programs to encourage physicians to train as geriatricians and geriatrics faculty, and it encourages the geriatrics interdisciplinary team approach.

Richard Olague, director of public affairs for HRSA, said his agency has invested over $160 million over the past 4 years in the education and training of geriatricians and other health care professionals who care for the elderly through its Geriatrics Workforce Enhancement Program and Geriatrics Academic Career Awards Program. In the academic year 2020-2021, the two programs trained 109 geriatricians; 456 other geriatric/gerontology providers and students; 44,450 other healthcare workforce professionals and students; and served 17,666 patients and 5,409 caregivers.

Dr. Harper, like his fellow geriatricians, tells young doctors that geriatrics is a fulfilling specialty.

“I get to care for the whole person and sometimes their families, too, and in the process form rich and meaningful relationships. And while I’m rarely in the position to cure, I always have the ability to care,” he said. “Sometimes that can mean being an advocate trying to make sure my patients receive the care they need, and other times it might mean protecting them from burdensome care that is unlikely to lead to any meaningful benefit. There is great reward in all of that.”

Dr. Supiano said geriatric patients are being helped by the Age-Friendly Health System initiative of the John A. Hartford Foundation and the Institute for Healthcare Improvement in partnership with the American Hospital Association and the Catholic Health Association of the United States. This is sort of a seal of approval for facilities committed to age-friendly care.

“When you go to your hospital, if they don’t have this age-friendly health system banner on the front door ... you either ask why that is not there, or you vote with your feet and go to another health system that is age friendly,” he said. “Geriatricians are eternal optimists.”

A version of this article first appeared on Medscape.com.

These should be the best of times for geriatric medicine.

The baby boom has become a senior surge, bringing in a rapidly growing pool of aging patients for geriatricians to treat. According to the U.S. Census Bureau, more than 56 million adults aged 65 and older live in the United States. They account for about 17% of the nation’s population. That number is expected to hit 73 million by 2030 and 86 million by 2050.

The American Geriatrics Society estimates that 30% of older people require the attention of geriatricians. These clinicians excel in managing complex cases – patients with multiple comorbidities, such as coronary artery disease, dementia, and osteoporosis, who are taking a half dozen, and often more, medications.

But instead of thriving, geriatrics as a medical specialty appears to be hobbling. In the 2010s, geriatricians called for “25,000 [such specialists] by 2025.” As of 2021, 7123 certified geriatricians were practicing in the United States, according to the American Board of Medical Specialties.

The Health Resources and Services Administration, a federal agency that addresses medical workforce shortages, estimates that there will be 6,230 geriatricians by 2025, or approximately 1 for every 3,000 older adults requiring geriatric care. HRSA projects a shortage of 27,000 geriatricians by 2025.

The specialty has faced an uphill battle to attract fellows. This year, only 43% of the nation’s 177 geriatrics fellowship slots were filled, according to November’s National Resident Match Program report. Family medicine–based geriatrics achieved only a 32% fill rate, while internal medicine–based programs saw a rate of 45%.

“Our numbers are shrinking so we need another approach to make sure older adults get the care they need and deserve,” said G. Michael Harper, MD, president of the 6,000-member AGS.

But Dr. Harper, who practices at the University of California, San Francisco, and the San Francisco VA Medical Center, added a positive note: “We may be struggling to increase the number of board-certified geriatricians, but the field itself has made a lot of progress in terms of improving clinical care through advancements in science and in the ways we deliver care.”

Dr. Harper cited the Hospital Elder Life Program, a hospital model developed at the Harvard-affiliated Marcus Institute for Aging Research, which uses an interprofessional team and trained volunteers to prevent delirium and functional decline. HELP has been adopted by more than 200 hospitals worldwide and has been successful at returning older adults to their homes or previous living situations with maintained or improved ability to function, he said.

Mark Supiano, MD, professor and chief of geriatrics at the University of Utah, Salt Lake City, said the specialty has been in shortage mode since ABMS recognized it in 1988. He was in the initial cohort of fellowship-trained geriatricians, sitting for the first certifying exam in geriatrics offered that year.

“Back then, the demographic imperative of the aging of our society was on the horizon. We’re living it now. I knew enough to recognize it was coming and saw an opportunity,” Dr. Supiano said in an interview. “There was so much then that we didn’t know about how to understand aging or how to care for older adults that there really was such a knowledge gap.”

Dr. Supiano is an associate editor of Hazzard’s Geriatric Medicine and Gerontology (McGraw-Hill Education), which has more than doubled in pages and word count during his career.
 

Unfavorable finances

Katherine Thompson, MD, director of the geriatrics fellowship program at the University of Chicago and codirector of UChicago’s Successful Aging and Frailty Evaluation Clinic, said money is a major reason for the struggle. “I think probably the biggest driver is financial,” she said. “A lot of people are graduating medical school with really astronomical amounts of medical school loans.”

Geriatricians, like other doctors, carry a large debt – $200,000, on average, not counting undergraduate debt, according to the Association of American Medical Colleges.

But the typical geriatrician earns less than an internist or family medicine doctor who doesn’t undergo the additional year of training, Dr. Thompson said. “There’s not a lot of financial motivation to do this fellowship,” she said.

The jobs website Zippia reports that geriatricians earned roughly $165,000 per year on average in 2022. The average annual incomes in 2022 were $191,000 for pediatricians, $215,000 for family physicians, and $223,000 for internists, according to the site.

In other words, Dr. Harper said, “geriatrics is one of the few professions where you can actually do additional training and make less money.”

The reason for the pay issue is simple: Geriatricians treat patients covered by Medicare, whose reimbursement schedules lag behind those of commercial insurers. The Kaiser Family Foundation reported in 2020 that private insurance paid 143% of Medicare rates on average for physician services.

Dr. Harper said overall compensation for geriatricians has “not gained a lot of traction,” but they can earn comfortable livings.

Still, representation of the specialty on the American Medical Association’s Relative Value Scale Update Committee has led to approval by the Centers for Medicare & Medicaid Services of billing codes that pay geriatricians “for what they do. Examples include chronic care management, advance care planning, and dementia evaluation,” he said.

But the geriatrician gap goes beyond money.

Ageism, too, may play a role in residents not choosing geriatrics.

“Our culture is ageist. It definitely focuses on youth and looks at aging as being loss rather than just a change in what works well and what doesn’t work well,” said Mary Tinetti, MD, a geriatrician and researcher at Yale University, New Haven, Conn. “Ageism happens among physicians, just because they’re part of the broader society.”
 

Time for a new goal?

Dr. Tinetti said she’s optimistic that new ideas about geriatricians teaching other primary care clinicians about the tenets of geriatric medicine, which offer a wholistic approach to comorbidities, such as diabetes, atrial fibrillation, dementia, hypertension, hyperlipidemia, and polypharmacy problems faced by this population, especially those 85 and older.

She has called on her profession to abandon the goal of increasing the numbers of board-certified geriatricians – whom she refers to as big “G” geriatricians. She instead wants to develop a “small, elite workforce” that discovers and tests geriatrics principles through research, teaches these principles to all healthcare professions and to the public, and disseminates and implements the policies.

“We need a cadre of geriatricians who train all other clinicians in the care of older adults,” Dr. Tinetti said. “The goal is not more geriatricians but rather the preparation of all clinicians in the care of older adults.”

Dr. Thompson said geriatricians are teaching primary care specialists, nurses, social workers, and other health care providers the principles of age-friendly care. AGS has for the past 20 years led a program called the Geriatrics for Specialists Initiative to increase geriatrics knowledge and expertise of surgical and medical specialists.

Some specialties have taken the cue and have added geriatrics-related hyphens through additional training: geriatric-emergency, geriatric-general surgery, geriatric-hospitalists, and more.

HRSA runs programs to encourage physicians to train as geriatricians and geriatrics faculty, and it encourages the geriatrics interdisciplinary team approach.

Richard Olague, director of public affairs for HRSA, said his agency has invested over $160 million over the past 4 years in the education and training of geriatricians and other health care professionals who care for the elderly through its Geriatrics Workforce Enhancement Program and Geriatrics Academic Career Awards Program. In the academic year 2020-2021, the two programs trained 109 geriatricians; 456 other geriatric/gerontology providers and students; 44,450 other healthcare workforce professionals and students; and served 17,666 patients and 5,409 caregivers.

Dr. Harper, like his fellow geriatricians, tells young doctors that geriatrics is a fulfilling specialty.

“I get to care for the whole person and sometimes their families, too, and in the process form rich and meaningful relationships. And while I’m rarely in the position to cure, I always have the ability to care,” he said. “Sometimes that can mean being an advocate trying to make sure my patients receive the care they need, and other times it might mean protecting them from burdensome care that is unlikely to lead to any meaningful benefit. There is great reward in all of that.”

Dr. Supiano said geriatric patients are being helped by the Age-Friendly Health System initiative of the John A. Hartford Foundation and the Institute for Healthcare Improvement in partnership with the American Hospital Association and the Catholic Health Association of the United States. This is sort of a seal of approval for facilities committed to age-friendly care.

“When you go to your hospital, if they don’t have this age-friendly health system banner on the front door ... you either ask why that is not there, or you vote with your feet and go to another health system that is age friendly,” he said. “Geriatricians are eternal optimists.”

A version of this article first appeared on Medscape.com.