Genome-wide risk scores flag disease-prone groups without rare mutations
A study in Nature Genetics describes genome-wide polygenic risk scores for five common diseases, built and tested against GWAS data. The scores flagged 8.0 percent of the population at more than three times the normal risk for coronary artery disease. Similar high-risk groups turned up for atrial fibrillation, type 2 diabetes, inflammatory bowel disease, and breast cancer. For coronary artery disease, the share of people caught at that risk level was 20 times higher than the carrier frequency of rare monogenic mutations that confer comparable risk.
Monogenic mutation tests catch only a narrow slice of high-risk people. Polygenic scores could identify a much larger group instead.
Source: Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations - Nature Genetics (doi.org).
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].