Polygenic score

In genetics, a polygenic score (PGS) is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype. The PGS is also called the polygenic index (PGI) or genome-wide score; in the context of disease risk, it is called a polygenic risk score (PRS or PR score) or genetic risk score. The score reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. It gives an estimate of how likely an individual is to have a given trait based only on genetics, without taking environmental factors into account; and it is typically calculated as a weighted sum of trait-associated alleles.

Recent progress in genetics has developed polygenic predictors of complex human traits, including risk for many important complex diseases that are typically affected by many genetic variants, each of which confers a small effect on overall risk. In a polygenic risk predictor the lifetime (or age-range) risk for the disease is a numerical function captured by the score which depends on the states of thousands of individual genetic variants (i.e., single-nucleotide polymorphisms, or SNPs).

Polygenic scores are widely used in animal breeding and plant breeding due to their efficacy in improving livestock breeding and crops. In humans, polygenic scores are typically generated from data of genome-wide association study (GWAS). They are an active area of research spanning topics such as learning algorithms for genomic prediction; new predictor training; validation testing of predictors; and clinical application of PRS. In 2018, the American Heart Association named polygenic risk scores as one of the major breakthroughs in research in heart disease and stroke.