RT Journal Article
SR Electronic
T1 Implementing Primary Care Mediated Population Genetic Screening Within an Integrated Health System
JF The Journal of the American Board of Family
                Medicine
JO J Am Board Fam Med
FD American Board of Family Medicine
SP 861
OP 865
DO 10.3122/jabfm.2021.04.200381
VO 34
IS 4
A1 David, Sean P.
A1 Dunnenberger, Henry M.
A1 Ali, Raabiah
A1 Matsil, Adam
A1 Lemke, Amy A.
A1 Singh, Lavisha
A1 Zimmer, Anjali
A1 Hulick, Peter J.
YR 2021
UL http://www.jabfm.org/content/34/4/861.abstract
AB Introduction: Genetic 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.Methods: Construction 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.Results: Across 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).Discussion: The 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.