Polygenic score

A polygenic score (PGS) indexes an individual’s genetic predisposition for a certain trait or disease (see also Rayner, 2018). Left panel: A published genome-wide association study (GWAS) serves as an external database. In an extremely large sample, a GWAS estimates tiny associations () between the trait of interest and millions of genetic variants. Specifically, the genetic variants studied are single-nucleotide polymorphisms (SNPs), located across the genome. Middle panel: Polygenic scoring can be done in a sample that was not part of the GWAS. For each individual in this sample the SNP effects () are multiplied by the number of trait-associated alleles (0, 1, or 2) the person carries. These values are summed across all SNPs to arrive at the individual’s PGS. Right panel: The resulting PGSs across individuals in that sample are normally distributed. If the trait of interest is a disorder, like ADHD, the individuals in the right tail have the highest genetic risk for developing ADHD. PGSs are not yet strong enough for predictions at the individual level, but see the main text for examples of how PGSs advance science at the group level. Figure adapted from Belsky & Harden, 2019.