Family Health History Beats Personal Genomic Screening for Cancer Risk

WASHINGTON – A good family history risk assessment is still a better tool for predicting disease risk than is personal genomic screening, despite advances in genomic technology.

Dr. Charis Eng and coauthor Brandie Leach compared the effectiveness of family history risk assessment with direct-to-consumer personal genomic screening for the assessment of prostate, breast, and colorectal cancer. They enrolled 22 patients at their clinic and 22 spouses.

Among colon cancer patients, nine were considered at high risk on the basis of family health history. In fact, validated genetic testing showed that five had mutations that put them at very high risk. "None of them were picked up by personal genome scanning," Dr. Eng noted. "I think what’s alarming is the inability of personal genome scanning to identify the real high-risk patients."

Each participant had a family health history taken, and then provided a sample for the personal genomic screening (Navigenics Inc.). "After the family health history, we assessed them as if they were in clinic ... the 22 patients got counseling and interpretation right away," said Dr. Eng, director of the Genomic Medicine Institute of the Cleveland Clinic Foundation. If the interpretation suggested that a patient was at high risk for a condition, the patient was offered validated genetic testing.

The researchers alerted the spouses if they found something concerning on the family health history and offered them genetic counseling. "If anything looked alarming, it would then follow the same flow as for a patient," Dr. Eng said in an interview.

Next, the investigators used standardized algorithms to classify patients based on their risk for the three cancers using both family health assessment and personal genomic screening – low (same as the general population), intermediate, and high. They also assessed each subject’s hereditary risk based on clinical criteria and/or validated genetic test results.

Overall concordance between family health assessment and personal genomic screening was low for all three cancers (K less than 0.15). Cancer risk using family health assessment and personal genomic screening agreed on participant risk categories only 46% of the time.

For prostate cancer, personal genomic screening predicted a moderate/high risk for eight individuals, while these individuals had the same risk as the general population based on family health assessment. Based on personal genomic screening, 12 individuals were determined to have a moderate colon cancer risk, while these individuals had the same risk as the general population based on family health assessment.

Overall, for the 22 individuals with a hereditary cancer risk, the personal genomic screening identified only 1 at high risk. None of the three individuals with hereditary prostate cancer was assessed as high risk on personal genomic screening. Likewise, the 10 individuals with hereditary breast cancer were assessed as high risk using family health assessment, but only 1 was considered to be at high risk based on personal genomic screening.

Family health risk assessment and personal genomic screening may be complementary tools for cancer risk assessment. However, evaluation of family history is still the preferred method and should be used to clinically evaluate an individual’s risk of developing cancer for now.

It may be that the tests will be used as an additional tool to refine risk assessment for patients who are identified as having a moderate risk of disease by family health history, said Dr. Eng. However, it’s too early to put that into practice.

Dr. Eng and Ms. Leach reported that they had no relevant financial relationships.

WASHINGTON – A good family history risk assessment is still a better tool for predicting disease risk than is personal genomic screening, despite advances in genomic technology.

Dr. Charis Eng and coauthor Brandie Leach compared the effectiveness of family history risk assessment with direct-to-consumer personal genomic screening for the assessment of prostate, breast, and colorectal cancer. They enrolled 22 patients at their clinic and 22 spouses.

Among colon cancer patients, nine were considered at high risk on the basis of family health history. In fact, validated genetic testing showed that five had mutations that put them at very high risk. "None of them were picked up by personal genome scanning," Dr. Eng noted. "I think what’s alarming is the inability of personal genome scanning to identify the real high-risk patients."

Each participant had a family health history taken, and then provided a sample for the personal genomic screening (Navigenics Inc.). "After the family health history, we assessed them as if they were in clinic ... the 22 patients got counseling and interpretation right away," said Dr. Eng, director of the Genomic Medicine Institute of the Cleveland Clinic Foundation. If the interpretation suggested that a patient was at high risk for a condition, the patient was offered validated genetic testing.

The researchers alerted the spouses if they found something concerning on the family health history and offered them genetic counseling. "If anything looked alarming, it would then follow the same flow as for a patient," Dr. Eng said in an interview.

Next, the investigators used standardized algorithms to classify patients based on their risk for the three cancers using both family health assessment and personal genomic screening – low (same as the general population), intermediate, and high. They also assessed each subject’s hereditary risk based on clinical criteria and/or validated genetic test results.

Overall concordance between family health assessment and personal genomic screening was low for all three cancers (K less than 0.15). Cancer risk using family health assessment and personal genomic screening agreed on participant risk categories only 46% of the time.

For prostate cancer, personal genomic screening predicted a moderate/high risk for eight individuals, while these individuals had the same risk as the general population based on family health assessment. Based on personal genomic screening, 12 individuals were determined to have a moderate colon cancer risk, while these individuals had the same risk as the general population based on family health assessment.

Overall, for the 22 individuals with a hereditary cancer risk, the personal genomic screening identified only 1 at high risk. None of the three individuals with hereditary prostate cancer was assessed as high risk on personal genomic screening. Likewise, the 10 individuals with hereditary breast cancer were assessed as high risk using family health assessment, but only 1 was considered to be at high risk based on personal genomic screening.

Family health risk assessment and personal genomic screening may be complementary tools for cancer risk assessment. However, evaluation of family history is still the preferred method and should be used to clinically evaluate an individual’s risk of developing cancer for now.

It may be that the tests will be used as an additional tool to refine risk assessment for patients who are identified as having a moderate risk of disease by family health history, said Dr. Eng. However, it’s too early to put that into practice.

Dr. Eng and Ms. Leach reported that they had no relevant financial relationships.

WASHINGTON – A good family history risk assessment is still a better tool for predicting disease risk than is personal genomic screening, despite advances in genomic technology.

Dr. Charis Eng and coauthor Brandie Leach compared the effectiveness of family history risk assessment with direct-to-consumer personal genomic screening for the assessment of prostate, breast, and colorectal cancer. They enrolled 22 patients at their clinic and 22 spouses.

Among colon cancer patients, nine were considered at high risk on the basis of family health history. In fact, validated genetic testing showed that five had mutations that put them at very high risk. "None of them were picked up by personal genome scanning," Dr. Eng noted. "I think what’s alarming is the inability of personal genome scanning to identify the real high-risk patients."

Each participant had a family health history taken, and then provided a sample for the personal genomic screening (Navigenics Inc.). "After the family health history, we assessed them as if they were in clinic ... the 22 patients got counseling and interpretation right away," said Dr. Eng, director of the Genomic Medicine Institute of the Cleveland Clinic Foundation. If the interpretation suggested that a patient was at high risk for a condition, the patient was offered validated genetic testing.

The researchers alerted the spouses if they found something concerning on the family health history and offered them genetic counseling. "If anything looked alarming, it would then follow the same flow as for a patient," Dr. Eng said in an interview.

Next, the investigators used standardized algorithms to classify patients based on their risk for the three cancers using both family health assessment and personal genomic screening – low (same as the general population), intermediate, and high. They also assessed each subject’s hereditary risk based on clinical criteria and/or validated genetic test results.

Overall concordance between family health assessment and personal genomic screening was low for all three cancers (K less than 0.15). Cancer risk using family health assessment and personal genomic screening agreed on participant risk categories only 46% of the time.

For prostate cancer, personal genomic screening predicted a moderate/high risk for eight individuals, while these individuals had the same risk as the general population based on family health assessment. Based on personal genomic screening, 12 individuals were determined to have a moderate colon cancer risk, while these individuals had the same risk as the general population based on family health assessment.

Overall, for the 22 individuals with a hereditary cancer risk, the personal genomic screening identified only 1 at high risk. None of the three individuals with hereditary prostate cancer was assessed as high risk on personal genomic screening. Likewise, the 10 individuals with hereditary breast cancer were assessed as high risk using family health assessment, but only 1 was considered to be at high risk based on personal genomic screening.

Family health risk assessment and personal genomic screening may be complementary tools for cancer risk assessment. However, evaluation of family history is still the preferred method and should be used to clinically evaluate an individual’s risk of developing cancer for now.

It may be that the tests will be used as an additional tool to refine risk assessment for patients who are identified as having a moderate risk of disease by family health history, said Dr. Eng. However, it’s too early to put that into practice.

Dr. Eng and Ms. Leach reported that they had no relevant financial relationships.