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Implementing Primary Care Mediated Population Genetic Screening Within an Integrated Health System
Sean P David1, Henry M Dunnenberger2, Raabiah Ali2
1From 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.
Journal of the American Board of Family Medicine : JABFM
|July 27, 2021
Summary
Population-based genetic screening through primary care physicians (PCPs) significantly identifies actionable genetic risks for cancer and cardiovascular disease. This approach enhances personalized preventive care with minimal burden on PCPs.
Area of Science:
- Genomics
- Preventive Medicine
- Population Health
Background:
- Medical history-based genetic screenings limit personalized preventive care.
- Population-based genetic screening programs are emerging tools for healthcare.
Purpose of the Study:
- To evaluate the impact of the DNA10K population-based genetic screening program.
- To assess the contribution of this program to preventive healthcare within an integrated health system.
Main Methods:
- Cross-sectional analysis of nearly 10,000 patients' genetic screening data.
- Included primary care specialties: family medicine, internal medicine, obstetrics/gynecology.
- Data collected between April 2019 and January 2020.
Main Results:
- A median of 7.5 cancer and cardiovascular disease variants per PCP identified.
- Over 8% of patients had actionable genetic risk variants.
- Nearly 2% had CDC Tier 1 variants; 1 median patient per PCP had hereditary breast and ovarian cancer, Lynch Syndrome, or Familial Hypercholesterolemia.
Conclusions:
- Integrated healthcare systems can implement genetic screening effectively.
- Population-based genetic screening can improve health outcomes with minimal PCP referral burden.
- This program demonstrates potential for enhanced personalized preventive care.
Keywords:
Chronic DiseaseCross-SectionalGenetic TestingGenomicsIntegrated Health Care SystemsPrimary Care PhysiciansPrimary Health CareStudiesMore Related Videos
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