ASHG Research Emphasizes Medical Value of Family History

Roxanna Guilford-Blake, for HealthLeaders Media, November 9, 2010

Integrating patients' family health histories in clinical practice remains the "gold standard" for identifying disease risk, according to research presented at the recently concluded American Society of Human Genetics 60th Annual Meeting in Washington, D.C.

Several presentations featured research on use of family health history information in clinical settings to assess an individual's risk for developing common chronic diseases.  

In one, entitled "Comparison of Family Health History to Personal Genomic Screening: Which Method is More Effective for Risk Assessment of Breast, Colon, and Prostate Cancer?," a group of researchers led by Charis Eng, MD, PhD, chair and founding director of the Genomic Medicine Institute of the Cleveland Clinic, investigated the concordance and relevance between family health history-based risk assessment (FHRA) and SNP-based risk assessment through a direct-to-consumer (DTC) personal genomic screening (PGS) test. Eng and her colleagues then compared FHRA with the PGS test for breast, cancer and colorectal cancer.

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 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, 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 was 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 Eng. During a briefing on Friday, she called FHRA the "best kept secret in healthcare."  Until further research is conducted, "family health history is still the gold standard," she said—a "secret weapon" in the integration of personalized medicine and genetic knowledge into clinical practice.

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