Examining the Impact of Polygenic Risk Information in Primary Care

J Prim Care Community Health. 2023 Jan-Dec;14:21501319231151766. doi: 10.1177/21501319231151766.


Background: Polygenic risk testing examines variation across multiple genes to estimate a risk score for a particular disease, including risk scores for many common, chronic health conditions. Although polygenic risk information (PRI) may be a promising tool for enhancing preventive counseling and facilitating early identification of disease, its potential impact on primary-care encounters and disease prevention efforts has not been well characterized.

Methods: We conducted in-depth, semi-structured interviews of patients to assess their understandings of PRI and their beliefs about its relevance to disease prevention.

Results: We completed interviews with 19 participants. Participants described enthusiasm for the generation of PRI and recognized its utility for disease prevention. Participants also described the value of PRI as limited if not corroborated by non-genetic risk factors. Finally, participants noted that PRI, by itself, would be insufficient as a trigger for initiating many preventive interventions.

Conclusion: PRI has the potential to become an important tool in primary care. However, patient views about PRI as well as the complexities of disease prevention in the primary care context may limit the impact of PRI on disease prevention.

Keywords: disease prevention; genomic screening; polygenic risk.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chronic Disease
  • Counseling*
  • Delivery of Health Care*
  • Humans
  • Primary Health Care
  • Risk Assessment
  • Risk Factors