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

ABSTRACT: Polygenic risk scores (PRSs) have improved in predictive performance, but several challenges remain to be addressed before PRSs can be implemented in the clinic, including reduced predictive performance of PRSs in diverse populations, and the interpretation and communication of genetic results to both providers and patients. To address these challenges, the National Human Genome Research Institute-funded Electronic Medical Records and Genomics (eMERGE) Network has developed a framework and pipeline for return of a PRS-based genome-informed risk assessment to 25,000 diverse adults and children as part of a clinical study. From an initial list of 23 conditions, ten were selected for implementation based on PRS performance, medical actionability and potential clinical utility, including cardi

SUBMITTER: Lennon NJ 

PROVIDER: S-EPMC10878968 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature