Primary care physician use of patient race and polygenic risk scores in medical decision-making

Genet Med. 2023 Apr;25(4):100800. doi: 10.1016/j.gim.2023.100800. Epub 2023 Feb 4.

Abstract

Purpose: The use of patient race in medicine is controversial for its potential either to exacerbate or address health disparities. Polygenic risk scores (PRSs) have emerged as a tool for risk stratification models used in preventive medicine. We examined whether PRS results affect primary care physician (PCP) medical decision-making and whether that effect varies by patient race.

Methods: Using an online survey with a randomized experimental design among PCPs in a national database, we ascertained decision-making around atherosclerotic cardiovascular disease prevention and prostate cancer screening for case scenario patients who were clinically identical except for randomized reported race.

Results: Across 369 PCPs (email open rate = 10.8%, partial completion rate = 93.7%), recommendations varied with PRS results in expected directions (low-risk results, no available PRS results, and high-risk results). Still, physicians randomized to scenarios with Black patients were more likely to recommend statin therapy than those randomized to scenarios with White patients (odds ratio = 1.74, 95% CI = 1.16-2.59, P = .007) despite otherwise identical clinical profiles and independent of PRS results. Similarly, physicians were more likely to recommend prostate cancer screening for Black patients than for White patients (odds ratio = 1.58, 95% CI = 1.06-2.35, P = .025) despite otherwise identical clinical and genetic profiles.

Conclusion: Despite advances in precision risk stratification, physicians will likely continue to use patient race implicitly or explicitly in medical decision-making.

Keywords: Cardiovascular disease; Health disparities; Polygenic risk scores; Prevention; Prostate cancer.

Publication types

  • Randomized Controlled Trial
  • Research Support, N.I.H., Extramural

MeSH terms

  • Clinical Decision-Making
  • Early Detection of Cancer
  • Humans
  • Male
  • Physicians, Primary Care*
  • Prostate-Specific Antigen
  • Prostatic Neoplasms* / diagnosis
  • Prostatic Neoplasms* / genetics
  • Prostatic Neoplasms* / prevention & control
  • Risk Factors

Substances

  • Prostate-Specific Antigen