Perspective: The Clinical Use of Polygenic Risk Scores: Race, Ethnicity, and Health Disparities

Ethn Dis. 2019 Jul 18;29(3):513-516. doi: 10.18865/ed.29.3.513. eCollection 2019 Summer.


Polygenic risk scores (PRS) are an emerging precision medicine tool based on multiple gene variants that, taken alone, have weak associations with disease risks, but collectively may enhance disease predictive value in the population. However, the benefit of PRS may not be equal among non-European populations, as they are under-represented in genome-wide association studies (GWAS) that serve as the basis for PRS development. In this perspective, we discuss a path forward, which includes: 1) inclusion of underrepresented populations in PRS research; 2) global efforts to build capacity for genomic research; 3) equitable implementation of these tools in clinical practice; and 4) traditional public health approaches to reduce risk of adverse health outcomes as an important component to precision health. As precision medicine is implemented in clinical care, researchers must ensure that advances from PRS research will benefit all.

Keywords: Genome-Wide Association Studies; Polygenic Risk Scores; Precision Medicine.

Publication types

  • Editorial