Polygenic scores in biomedical research.

Iftikhar J Kullo; Cathryn M Lewis; Michael Inouye; Alicia R Martin; Samuli Ripatti; Nilanjan Chatterjee
Abstract
Public health strategies aimed at disease prevention or early detection and intervention have the potential to advance human health worldwide. However, their success depends on the identification of risk factors that underlie disease burden in the general population. Genome-wide association studies (GWAS) have implicated thousands of single-nucleotide polymorphisms (SNPs) in common complex diseases or traits. By calculating a weighted sum of the number of trait-associated alleles harboured by an individual, a polygenic score (PGS), also called a polygenic risk score (PRS), can be constructed that reflects an individual’s estimated genetic predisposition for a given phenotype. Here, we ask six experts to give their opinions on the utility of these probabilistic tools, their strengths and limitations, and the remaining barriers that need to be overcome for their equitable use.
Journal NATURE REVIEWS. GENETICS
ISSN 1471-0064
Published 01 Sep 2022
Volume 23
Issue 9
Pages 524 532 524-532
DOI 10.1038/s41576-022-00470-z
Type Journal Article | Research Support, N.I.H., Extramural
Sponsorship