Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.

ABSTRACT: Polygenic risk scores (PRS) have improved in predictive performance supporting their use in clinical practice. Reduced predictive performance of PRS in diverse populations can exacerbate existing health disparities. The NHGRI-funded eMERGE Network is returning a PRS-based genome-informed risk assessment to 25,000 diverse adults and children. We assessed PRS performance, medical actionability, and potential clinical utility for 23 conditions. Standardized metrics were considered in the selection process with additional consideration given to strength of evidence in African and Hispanic populations. Ten conditions were selected with a range of high-risk thresholds: atrial fibrillation, breast cancer, chronic kidney disease, coronary heart disease, hypercholesterolemia, prostate cancer, asthm

SUBMITTER: Lennon NJ 

PROVIDER: S-EPMC10275001 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature