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Studies validate use of family health history as gold standard in disease risk assessment
Date:11/5/2010

amily health history-based risk assessment (FHRA) and SNP-based risk assessment through a DTC personal genomic screening (PGS) test. The DTC genetic tests for this study were conducted by Navigenics to assess each participant's personal risk of developing three common types of cancer. Dr. Eng and her colleagues then compared FHRA with Navigenics PGS for breast cancer (22 females), prostate cancer (22 males), and colorectal cancer (44 individuals).

The researchers found that although both FHRA and PGS placed an average of 40% in the same risk categories, there was little concordance between the two for breast, prostate, or colon cancer risks. For instance, the use of FRHA methods classified eight individuals as being at high risk for breast cancer, but only one of the eight was classified as high-risk when assessed via PGS. Overall, FHRA assigned 22 individuals to the hereditary risk category (i.e., due to a high risk mutation in a cancer-predisposing gene), but PGS identified only one of these individuals as high-risk. The researchers also assessed nine individuals with hereditary risk for colorectal cancer, five of whom had proven mutations defining inherited colorectal cancer syndromes. None of the nine were classified as high-risk when assessed through PGS risk analysis.

"Our research findings indicate that family health history assessment is currently a better predictor of cancer risk when compared with personal genomic testing methods," said Dr. Eng. "However, the personal genomic screening tests could potentially become more effective and accurate if combined with family health history information and used as a complementary tool for cancer risk assessment."

"Evaluation of family health history still remains to be the gold standard in personal disease risk assessment," said Eng. "Until further research is conducted to prove that personal genomic screening can accurately predict a person's risk, it is imperative that health care pr
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Contact: Kristen Long
klong@ashg.org
301-634-7346
American Society of Human Genetics
Source:Eurekalert

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