Patient Perceptions about the Utility of Family History Review during Whole Genome Sequencing: Initial Findings from the MedSeq Study. K. D. Christensen1, P. J. Lupo2, J. O. Robinson2, J. Blumenthal-Barby2, J. L. Vassy1,3, L. S. Lehmann1, P. A. Ubel4, J. S. Roberts5, R. C. Green6, A. L. McGuire2, The MedSeq Study Team 1) Brigham & Women's Hospital and Harvard Medical School, Boston, MA; 2) Baylor College of Medicine, Houston, TX; 3) VA Boston Healthcare System, Boston, MA; 4) Fuqua School of Business and Sanford School of Public Policy, Duke University, Durham, NC; 5) University of Michigan School of Public Health, Ann Arbor, MI; 6) Partners HealthCare Center for Personalized Genetic Medicine, Boston, MA.
Background: Family history is critical to interpreting variants identified during genomic sequencing, particularly when disease and phenotypic indications are not evident. While physicians and clinicians are aware of its utility, patients may not recognize the importance of family history in the context of sequencing or as a standalone risk assessment tool.
Methods: The MedSeq Project is a randomized clinical trial exploring the use of whole genome sequencing in the care of healthy primary care patients and cardiology patients with dilated or hypertrophic cardiomyopathy. After completing a baseline questionnaire and blood draw, patient participants were randomized to a standard of care (SOC) arm where they reviewed their family history with their participating physicians, or to an experimental arm where they additionally reviewed findings from whole genome sequencing (WGS). Six weeks after this disclosure session, participants rated eight items assessing the utility of the family history review on 5-point scales. The WGS arm also rated eight parallel items assessing the utility of the sequencing information.
Results: Of 200 projected, 19 patients have completed the 6 week follow-up to date (42% WGS; 26% cardiology; mean age 55; 32% female; 100% white non-Hispanic). Within the WGS arm, utility ratings for family history and WGS did not differ (all p>0.12). However, participants in the WGS arm assigned higher ratings to family history than participants in the SOC arm about satisfying curiosity (4.3 vs 2.4, p<0.001), explaining a condition (3.9 vs 2.4, p=0.003), explaining a family history of disease (3.9 vs 2.8, p=0.033), tailoring treatments (3.7 vs 2.7, p=0.014), and preventing disease (3.8 vs 2.5, p=0.016).
Conclusions: Very early data showed that patients perceived greater utility to family health history when it was accompanied by WGS rather than as standalone information. Patients also rated family history as equally useful as personalized genetic information. Findings suggest that WGS may serve as a teachable moment for addressing the benefits of understanding family history, perhaps because patients consider it an integral part of an overall genetic test experience. Ongoing work will examine disclosure sessions to understand how their content and focus be differ when family history review is coupled with WGS.
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