• Sean P David, Henry M Dunnenberger, Raabiah Ali, Adam Matsil, Amy A Lemke, Lavisha Singh, Anjali Zimmer, and Peter J Hulick.
• From the Pritzker School of Medicine, The University of Chicago, IL (SPD, AAL, PJH); NorthShore University HealthSystem, Evanston, IL (SPD, HMD, RA, AM, AAL, LS, PJH); Color Genomics, Inc., Burlingame, CA (AZ). SDavid@northshore.org.
• J Am Board Fam Med. 2021 Jul 1; 34 (4): 861-865.

IntroductionGenetic screenings can have a large impact on enabling personalized preventive care. However, this can be limited by the primary use of medical history-based screenings in determining care. The purpose of this study was to understand the impact of DNA10K, a population-based genetic screening program mediated by primary care physicians within an integrated health system to emphasize its contribution to preventive healthcare.MethodsConstruction of the patient experience as part of DNA10K shaped the context for PCP engagement within the program. A cross-sectional analysis of patient consents, orders, tests, and results of nearly 10,000 patients within the primary care specialties of family medicine, internal medicine or obstetrics/gynecology between April 1, 2019 and January 22, 2020 was conducted.ResultsAcross all specialties, a median number of 7.5 cancer and cardiovascular disease variants per PCP was found. The average age of the study population was 49.6 years. Over 8% of these patients had at least one actionable genetic risk variant and almost 2% of patients had at least one CDC Tier 1 variant. The median numbers of patients per PCP with either hereditary breast and ovarian cancer, Lynch Syndrome, or Familial Hypercholesterolemia was 1 (Interquartile Range 0-2).DiscussionThe analysis of test results and the engagement of an integrated healthcare system in the implementation of a genetic screening program suggests that it can have a large impact on population health outcomes and minimal referral burden to PCPs if identified risks can lead to preventive care.© Copyright 2021 by the American Board of Family Medicine.

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