Polygenic scores in biomedical research

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. In this Viewpoint, we asked six experts to give their opinions on the utility of polygenic scores, their strengths and limitations, and the remaining barriers that need to be overcome for their equitable use.

Automated summary

Public health strategies play a crucial role in improving global human health, but their success relies on identifying risk factors underlying disease burden in the general population. Genome-wide association studies (GWAS) have identified thousands of single-nucleotide polymorphisms (SNPs) associated with common complex diseases or traits. A polygenic score (PGS), calculated based on the number of trait-associated alleles an individual carries, can reflect their genetic predisposition for a particular phenotype. Experts discuss the utility, strengths, limitations, and barriers of polygenic scores for equitable use.