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Genomic testing refined accuracy of melanoma risk prediction
ARLINGTON, VA. – Combining test data for melanocortin-1 receptor gene variants and common genomic variants with nongenetic screening resulted in better melanoma risk prediction, Ann Cust, Ph.D., reported at the annual meeting of the American Society of Preventive Oncology.
"We’ve shown in this study that measuring genetic factors to determine who’s at high risk for melanoma can play an important role in prediction," said Dr. Cust of the University of Sydney, Australia, in an interview. "This gives us a good model for looking at whether genetic factors can improve the way we target preventive behaviors."
In the United States, melanoma accounts for only about 2% of all skin cancers, but the most skin cancer–related deaths. Fair skin, light hair, freckling, and a family history of melanoma are known risk factors for the disease. Australia, where the study was conducted, has the highest incidence of melanoma in the world.
To date, skin cancer prevention efforts in both countries have largely relied upon mass media sun protection campaigns and identifying people at high risk based on their skin and hair pigmentation, Dr. Cust said. "But some people don’t know they are at high risk, and so they aren’t taking precautions," she said.
"Some of the genetic factors for melanoma are linked to pigmentation, but there are variations in genes involved in DNA repair and other biological pathways that occur in people whose pigmentation wouldn’t suggest they are at high risk, but they are."
For the study, Dr. Cust and her colleagues genotyped common variants in 18 different genes in a study group of 552 Australians, aged 18-39 years, all of whom had confirmed cases of invasive cutaneous melanoma, and also in a control group of 405 Australians of European ancestry without melanoma. The study was a population-based, case-control family study that assessed traditional melanoma risk factors such as hair color, moles, family history of melanoma, use of indoor tanning, and tendency to sunburn. They then performed genomewide association studies to identify the 18 specific gene regions that have common genomic variants that influence melanoma risk.
The investigators found that the area under the curve (AUC) of the predicted risk in the controls went from 0.76 (95% confidence interval, 0.73-0.79) using demographic and nongenetic factors, to 0.81 (95% CI, 0.78 -0.84) when MC1R genotype and novel common genomic variant data were added. They also found that the combined contribution to the AUC of the novel common variants was similar to that of the established common variants of MC1R and CDKN2A.
By combining the genetic and nongenetic data, the quartile classification of predicted risk improved a net 17% (95% CI, 9-242), compared with the nongenetic predictive model alone.
"This is just the first step," said Dr. Cust. "The next thing we have to work out is how this knowledge of melanoma risk translates into behavior change." To that end, Dr. Cust is currently seeking a grant to study a range of implications inherent in this study.
"We need to address the ethical implications such as to do with informed consent, and the psychosocial implications, as well as the economic ones," she said. Other concerns she noted include whether it will interfere with one’s life insurance coverage.
As for the findings’ effect on practice, Dr. Cust believes that general practitioners are already caught up in the tide of genomic testing that has become part of a consumer-driven market in the last decade. "Some patients already obtain direct-to-consumer genetic tests and bring their results in to their doctors," said Dr. Cust.
Whether primary care physicians will need to learn how to administer the test and at what cost also remains to be settled.
Although she said her next study will evaluate the cost of genomics for prevention compared with the cost of intervention, there is no turning back, according to Dr. Cust. "We are part of a genomic revolution. We already use genomics for individualized treatment of cancer, so I think it’s inevitable that one day it will become part of preventive care. It’s just been slower to get into that realm."
Dr. Cust is funded by fellowships from the Australian National Health and Medical Research Council and the Cancer Institute New South Wales, Australia.
ARLINGTON, VA. – Combining test data for melanocortin-1 receptor gene variants and common genomic variants with nongenetic screening resulted in better melanoma risk prediction, Ann Cust, Ph.D., reported at the annual meeting of the American Society of Preventive Oncology.
"We’ve shown in this study that measuring genetic factors to determine who’s at high risk for melanoma can play an important role in prediction," said Dr. Cust of the University of Sydney, Australia, in an interview. "This gives us a good model for looking at whether genetic factors can improve the way we target preventive behaviors."
In the United States, melanoma accounts for only about 2% of all skin cancers, but the most skin cancer–related deaths. Fair skin, light hair, freckling, and a family history of melanoma are known risk factors for the disease. Australia, where the study was conducted, has the highest incidence of melanoma in the world.
To date, skin cancer prevention efforts in both countries have largely relied upon mass media sun protection campaigns and identifying people at high risk based on their skin and hair pigmentation, Dr. Cust said. "But some people don’t know they are at high risk, and so they aren’t taking precautions," she said.
"Some of the genetic factors for melanoma are linked to pigmentation, but there are variations in genes involved in DNA repair and other biological pathways that occur in people whose pigmentation wouldn’t suggest they are at high risk, but they are."
For the study, Dr. Cust and her colleagues genotyped common variants in 18 different genes in a study group of 552 Australians, aged 18-39 years, all of whom had confirmed cases of invasive cutaneous melanoma, and also in a control group of 405 Australians of European ancestry without melanoma. The study was a population-based, case-control family study that assessed traditional melanoma risk factors such as hair color, moles, family history of melanoma, use of indoor tanning, and tendency to sunburn. They then performed genomewide association studies to identify the 18 specific gene regions that have common genomic variants that influence melanoma risk.
The investigators found that the area under the curve (AUC) of the predicted risk in the controls went from 0.76 (95% confidence interval, 0.73-0.79) using demographic and nongenetic factors, to 0.81 (95% CI, 0.78 -0.84) when MC1R genotype and novel common genomic variant data were added. They also found that the combined contribution to the AUC of the novel common variants was similar to that of the established common variants of MC1R and CDKN2A.
By combining the genetic and nongenetic data, the quartile classification of predicted risk improved a net 17% (95% CI, 9-242), compared with the nongenetic predictive model alone.
"This is just the first step," said Dr. Cust. "The next thing we have to work out is how this knowledge of melanoma risk translates into behavior change." To that end, Dr. Cust is currently seeking a grant to study a range of implications inherent in this study.
"We need to address the ethical implications such as to do with informed consent, and the psychosocial implications, as well as the economic ones," she said. Other concerns she noted include whether it will interfere with one’s life insurance coverage.
As for the findings’ effect on practice, Dr. Cust believes that general practitioners are already caught up in the tide of genomic testing that has become part of a consumer-driven market in the last decade. "Some patients already obtain direct-to-consumer genetic tests and bring their results in to their doctors," said Dr. Cust.
Whether primary care physicians will need to learn how to administer the test and at what cost also remains to be settled.
Although she said her next study will evaluate the cost of genomics for prevention compared with the cost of intervention, there is no turning back, according to Dr. Cust. "We are part of a genomic revolution. We already use genomics for individualized treatment of cancer, so I think it’s inevitable that one day it will become part of preventive care. It’s just been slower to get into that realm."
Dr. Cust is funded by fellowships from the Australian National Health and Medical Research Council and the Cancer Institute New South Wales, Australia.
ARLINGTON, VA. – Combining test data for melanocortin-1 receptor gene variants and common genomic variants with nongenetic screening resulted in better melanoma risk prediction, Ann Cust, Ph.D., reported at the annual meeting of the American Society of Preventive Oncology.
"We’ve shown in this study that measuring genetic factors to determine who’s at high risk for melanoma can play an important role in prediction," said Dr. Cust of the University of Sydney, Australia, in an interview. "This gives us a good model for looking at whether genetic factors can improve the way we target preventive behaviors."
In the United States, melanoma accounts for only about 2% of all skin cancers, but the most skin cancer–related deaths. Fair skin, light hair, freckling, and a family history of melanoma are known risk factors for the disease. Australia, where the study was conducted, has the highest incidence of melanoma in the world.
To date, skin cancer prevention efforts in both countries have largely relied upon mass media sun protection campaigns and identifying people at high risk based on their skin and hair pigmentation, Dr. Cust said. "But some people don’t know they are at high risk, and so they aren’t taking precautions," she said.
"Some of the genetic factors for melanoma are linked to pigmentation, but there are variations in genes involved in DNA repair and other biological pathways that occur in people whose pigmentation wouldn’t suggest they are at high risk, but they are."
For the study, Dr. Cust and her colleagues genotyped common variants in 18 different genes in a study group of 552 Australians, aged 18-39 years, all of whom had confirmed cases of invasive cutaneous melanoma, and also in a control group of 405 Australians of European ancestry without melanoma. The study was a population-based, case-control family study that assessed traditional melanoma risk factors such as hair color, moles, family history of melanoma, use of indoor tanning, and tendency to sunburn. They then performed genomewide association studies to identify the 18 specific gene regions that have common genomic variants that influence melanoma risk.
The investigators found that the area under the curve (AUC) of the predicted risk in the controls went from 0.76 (95% confidence interval, 0.73-0.79) using demographic and nongenetic factors, to 0.81 (95% CI, 0.78 -0.84) when MC1R genotype and novel common genomic variant data were added. They also found that the combined contribution to the AUC of the novel common variants was similar to that of the established common variants of MC1R and CDKN2A.
By combining the genetic and nongenetic data, the quartile classification of predicted risk improved a net 17% (95% CI, 9-242), compared with the nongenetic predictive model alone.
"This is just the first step," said Dr. Cust. "The next thing we have to work out is how this knowledge of melanoma risk translates into behavior change." To that end, Dr. Cust is currently seeking a grant to study a range of implications inherent in this study.
"We need to address the ethical implications such as to do with informed consent, and the psychosocial implications, as well as the economic ones," she said. Other concerns she noted include whether it will interfere with one’s life insurance coverage.
As for the findings’ effect on practice, Dr. Cust believes that general practitioners are already caught up in the tide of genomic testing that has become part of a consumer-driven market in the last decade. "Some patients already obtain direct-to-consumer genetic tests and bring their results in to their doctors," said Dr. Cust.
Whether primary care physicians will need to learn how to administer the test and at what cost also remains to be settled.
Although she said her next study will evaluate the cost of genomics for prevention compared with the cost of intervention, there is no turning back, according to Dr. Cust. "We are part of a genomic revolution. We already use genomics for individualized treatment of cancer, so I think it’s inevitable that one day it will become part of preventive care. It’s just been slower to get into that realm."
Dr. Cust is funded by fellowships from the Australian National Health and Medical Research Council and the Cancer Institute New South Wales, Australia.
AT THE ASPO ANNUAL MEETING
Major finding: Adding genetic testing for MC1R and other novel, common genomic variants, to nongenetic screening methods improved melanoma risk prediction by 17% (95% CI, 9-24).
Data source: Combined genetic and nongenetic melanoma risk analysis of 552 Australians aged 18-39 years with confirmed invasive cutaneous melanoma, compared with that in 405 controls from an Australian, population-based, case-control family study.
Disclosures: Dr. Cust is funded by fellowships from the Australian National Health and Medical Research Council and the Cancer Institute New South Wales, Australia.
Obesity-hunger paradox prevalent in low-income cancer survivors
ARLINGTON, VA. – Low-income minority women recovering from cancer are also likely to face the paradoxical burden of obesity and hunger, a study has shown.
"It’s counterintuitive, this relationship that exists in this country where you can report having issues around hunger, food insecurity – where you don’t know where your next meal is going to come from, and whether it will be nutritious – and at the same time be obese or overweight," the poster’s presenter, Errol Philip, Ph.D., said in an interview at the annual meeting of the American Society of Preventive Oncology, where he presented the findings.
Add to that the strain of undergoing chemotherapy or other cancer interventions, and one’s quality of life is dramatically affected. Study participants whose body mass index (BMI) was near 30 kg/m2, and who self-reported skipping meals or going an entire day without food because it was not available, also tended to have the lowest scores on the Functional Assessment of Cancer Therapy scale, which measures quality of life in cancer patients, reported Dr. Philip of Memorial Sloan Kettering Cancer Center, New York.
"This obesity-hunger paradox is thought to exist because of the change in our food environment over the past 50 years," he said, noting that images of hunger in days past were of underweight individuals. "Now, those who exist on aid, who have very little access to money, are purchasing cheap calories that are highly processed, malnutritious."
For this prospective, longitudinal assessment, Dr. Philip and his colleagues, including Dr. Francesca Gany, director of the Immigrant Health and Cancer Disparities Service at Memorial Sloan Kettering Cancer Center, analyzed the self-reported food insecurity and quality-of-life scores of 426 minority cancer patients (median age, 56 years), who had either been treated for cancer of any type or were at that time undergoing cancer treatment at one of 5 urban cancer centers. Food insecurity was measured according to the U.S. Department of Agriculture’s Core Food Security Module.
The majority of participants were women (70%), half of all participants were black, and just over a third were Hispanic. The most common diagnoses were breast cancer (44%) and gastrointestinal cancer (16%). More than three-quarters of the respondents reported income below the national poverty level.
The investigators found that two-thirds of all respondents were either overweight or obese (34% and 29% respectively), with nearly three-quarters (71%) reporting food insecurity, ranging from not knowing where the next nutritious meal would be found to not eating for an entire day.
Although the BMI of men in the study did not vary significantly according to whether they experienced food insecurity, the BMI of the women in the group did. Women who reported food insecurity along with moderate hunger had the highest BMI, while those who reported food insecurity and severe hunger had the lowest (27 vs. 26.6). Women who reported their food supply was secure had, on average, a BMI of 27.2.
The women with both food insecurity and obesity had the greatest measure of impaired quality of life. As for why women should be more affected than men, Dr. Philip said several hypotheses exist, including biomechanical ones such as women’s natural propensity to gain more weight than men, and women as caretakers forsaking their own meals in order to nourish others, but that no one knows for certain.
Overall, the implications are "troubling," said Dr. Philip. "In the general population, about 15% will endorse some kind of food insecurity. For individuals living below the poverty line, that number rises to about 40%. Among those individuals who also have cancer, the number rises to 70%."
Because many cancers have been associated with excess weight and low-quality nutrition, Dr. Philip said it was important for primary care providers to be aware that while these patients are vulnerable to begin with, dealing with cancer while also juggling the effects of both obesity and a lack of nutritious food means they are even more strained.
"Primary care providers can’t make the assumption that a patient who is overweight or obese is representative of that person having sufficient food," Dr. Philip said.
Dr. Philip did not report any relevant disclosures. Support for this research was provided by grants from the National Cancer Institute, the New York Community Trust, Susan G. Komen for the Cure (Greater New York City affiliate), and the Laurie M. Tisch Illumination Fund.
This article was updated March 19, 2014.
ARLINGTON, VA. – Low-income minority women recovering from cancer are also likely to face the paradoxical burden of obesity and hunger, a study has shown.
"It’s counterintuitive, this relationship that exists in this country where you can report having issues around hunger, food insecurity – where you don’t know where your next meal is going to come from, and whether it will be nutritious – and at the same time be obese or overweight," the poster’s presenter, Errol Philip, Ph.D., said in an interview at the annual meeting of the American Society of Preventive Oncology, where he presented the findings.
Add to that the strain of undergoing chemotherapy or other cancer interventions, and one’s quality of life is dramatically affected. Study participants whose body mass index (BMI) was near 30 kg/m2, and who self-reported skipping meals or going an entire day without food because it was not available, also tended to have the lowest scores on the Functional Assessment of Cancer Therapy scale, which measures quality of life in cancer patients, reported Dr. Philip of Memorial Sloan Kettering Cancer Center, New York.
"This obesity-hunger paradox is thought to exist because of the change in our food environment over the past 50 years," he said, noting that images of hunger in days past were of underweight individuals. "Now, those who exist on aid, who have very little access to money, are purchasing cheap calories that are highly processed, malnutritious."
For this prospective, longitudinal assessment, Dr. Philip and his colleagues, including Dr. Francesca Gany, director of the Immigrant Health and Cancer Disparities Service at Memorial Sloan Kettering Cancer Center, analyzed the self-reported food insecurity and quality-of-life scores of 426 minority cancer patients (median age, 56 years), who had either been treated for cancer of any type or were at that time undergoing cancer treatment at one of 5 urban cancer centers. Food insecurity was measured according to the U.S. Department of Agriculture’s Core Food Security Module.
The majority of participants were women (70%), half of all participants were black, and just over a third were Hispanic. The most common diagnoses were breast cancer (44%) and gastrointestinal cancer (16%). More than three-quarters of the respondents reported income below the national poverty level.
The investigators found that two-thirds of all respondents were either overweight or obese (34% and 29% respectively), with nearly three-quarters (71%) reporting food insecurity, ranging from not knowing where the next nutritious meal would be found to not eating for an entire day.
Although the BMI of men in the study did not vary significantly according to whether they experienced food insecurity, the BMI of the women in the group did. Women who reported food insecurity along with moderate hunger had the highest BMI, while those who reported food insecurity and severe hunger had the lowest (27 vs. 26.6). Women who reported their food supply was secure had, on average, a BMI of 27.2.
The women with both food insecurity and obesity had the greatest measure of impaired quality of life. As for why women should be more affected than men, Dr. Philip said several hypotheses exist, including biomechanical ones such as women’s natural propensity to gain more weight than men, and women as caretakers forsaking their own meals in order to nourish others, but that no one knows for certain.
Overall, the implications are "troubling," said Dr. Philip. "In the general population, about 15% will endorse some kind of food insecurity. For individuals living below the poverty line, that number rises to about 40%. Among those individuals who also have cancer, the number rises to 70%."
Because many cancers have been associated with excess weight and low-quality nutrition, Dr. Philip said it was important for primary care providers to be aware that while these patients are vulnerable to begin with, dealing with cancer while also juggling the effects of both obesity and a lack of nutritious food means they are even more strained.
"Primary care providers can’t make the assumption that a patient who is overweight or obese is representative of that person having sufficient food," Dr. Philip said.
Dr. Philip did not report any relevant disclosures. Support for this research was provided by grants from the National Cancer Institute, the New York Community Trust, Susan G. Komen for the Cure (Greater New York City affiliate), and the Laurie M. Tisch Illumination Fund.
This article was updated March 19, 2014.
ARLINGTON, VA. – Low-income minority women recovering from cancer are also likely to face the paradoxical burden of obesity and hunger, a study has shown.
"It’s counterintuitive, this relationship that exists in this country where you can report having issues around hunger, food insecurity – where you don’t know where your next meal is going to come from, and whether it will be nutritious – and at the same time be obese or overweight," the poster’s presenter, Errol Philip, Ph.D., said in an interview at the annual meeting of the American Society of Preventive Oncology, where he presented the findings.
Add to that the strain of undergoing chemotherapy or other cancer interventions, and one’s quality of life is dramatically affected. Study participants whose body mass index (BMI) was near 30 kg/m2, and who self-reported skipping meals or going an entire day without food because it was not available, also tended to have the lowest scores on the Functional Assessment of Cancer Therapy scale, which measures quality of life in cancer patients, reported Dr. Philip of Memorial Sloan Kettering Cancer Center, New York.
"This obesity-hunger paradox is thought to exist because of the change in our food environment over the past 50 years," he said, noting that images of hunger in days past were of underweight individuals. "Now, those who exist on aid, who have very little access to money, are purchasing cheap calories that are highly processed, malnutritious."
For this prospective, longitudinal assessment, Dr. Philip and his colleagues, including Dr. Francesca Gany, director of the Immigrant Health and Cancer Disparities Service at Memorial Sloan Kettering Cancer Center, analyzed the self-reported food insecurity and quality-of-life scores of 426 minority cancer patients (median age, 56 years), who had either been treated for cancer of any type or were at that time undergoing cancer treatment at one of 5 urban cancer centers. Food insecurity was measured according to the U.S. Department of Agriculture’s Core Food Security Module.
The majority of participants were women (70%), half of all participants were black, and just over a third were Hispanic. The most common diagnoses were breast cancer (44%) and gastrointestinal cancer (16%). More than three-quarters of the respondents reported income below the national poverty level.
The investigators found that two-thirds of all respondents were either overweight or obese (34% and 29% respectively), with nearly three-quarters (71%) reporting food insecurity, ranging from not knowing where the next nutritious meal would be found to not eating for an entire day.
Although the BMI of men in the study did not vary significantly according to whether they experienced food insecurity, the BMI of the women in the group did. Women who reported food insecurity along with moderate hunger had the highest BMI, while those who reported food insecurity and severe hunger had the lowest (27 vs. 26.6). Women who reported their food supply was secure had, on average, a BMI of 27.2.
The women with both food insecurity and obesity had the greatest measure of impaired quality of life. As for why women should be more affected than men, Dr. Philip said several hypotheses exist, including biomechanical ones such as women’s natural propensity to gain more weight than men, and women as caretakers forsaking their own meals in order to nourish others, but that no one knows for certain.
Overall, the implications are "troubling," said Dr. Philip. "In the general population, about 15% will endorse some kind of food insecurity. For individuals living below the poverty line, that number rises to about 40%. Among those individuals who also have cancer, the number rises to 70%."
Because many cancers have been associated with excess weight and low-quality nutrition, Dr. Philip said it was important for primary care providers to be aware that while these patients are vulnerable to begin with, dealing with cancer while also juggling the effects of both obesity and a lack of nutritious food means they are even more strained.
"Primary care providers can’t make the assumption that a patient who is overweight or obese is representative of that person having sufficient food," Dr. Philip said.
Dr. Philip did not report any relevant disclosures. Support for this research was provided by grants from the National Cancer Institute, the New York Community Trust, Susan G. Komen for the Cure (Greater New York City affiliate), and the Laurie M. Tisch Illumination Fund.
This article was updated March 19, 2014.
AT THE ASPO ANNUAL MEETING
Major finding: Three-quarters of low-income, minority women cancer survivors who were either overweight or obese reported food insecurity.
Data source: Prospective, longitudinal study of 426 cancer patients (median age, 56 years) treated for any type of cancer in 1 of 12 urban cancer centers.
Disclosures: Dr. Philip did not report any relevant disclosures. Support for this research was provided by grants from the National Cancer Institute, the New York Community Trust, Susan G. Komen for the Cure (Greater New York City affiliate), and the Laurie M. Tisch Illumination Fund.