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.
But first, clinicians need to obtain that history. "Even if we have a wonderful validation tool, if no one knows about it, it's no good," she said at the briefing.
And that was the subject of another study. "Family Health History Education to Improve Genetic Risk Assessment for Cancer" found that implementation of a comprehensive genetics education program for primary care clinicians at the Department of Veterans Affairs Greater Los Angeles Healthcare System has resulted in better cancer family history documentation, improved recognition of patients at risk for hereditary cancer, and increased referrals for genetic consultation and testing.
This education program—developed by Maren Scheuner, MD, MPH, director of the health services genomics program and clinical genetic services at VA GLA, and her colleagues—is comprised of informational (website, CME-approved lecture series), clinical (patient and provider information sheets, a family history reminder with template in the EHR), and behavioral components (practice-feedback reports regarding clinicians' use of the EHR tool).
The clinical tools developed for the EHR appear to have had the greatest impact in changing clinician behavior. In the first five months of the program's use, 568 cancer family histories were completed using the EHR's reminder and template. As a result, the genetics consultation service at the VA GLA received 47 patient referrals for risk assessment and possible genetic testing that, according to Scheuner, "very likely would not have been made without this comprehensive genetics education program."
Evaluation is still ongoing. "If we demonstrate continued success, this program may serve as a model for improving genetic risk assessment of other health conditions, and with appropriate modifications, it could also potentially be applied in other healthcare settings as well."
But at this point, she told HealthLeaders Media, the results of the research "are perhaps most relevant to health systems that have the opportunity to provide education to their clinicians."