The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments.

ABSTRACT: The Electronic Medical Records and Genomics (eMERGE) Network developed and implemented a genome-informed risk assessment (GIRA) to communicate genomic (polygenic risk scores [PRSs], integrated risk scores [IRSs], and monogenic results), clinical, and family history-based risk for 11 chronic diseases and provide recommended healthcare recommendations. GIRA reports have now been returned to 23,840 participants and their providers in a large prospective cohort study. We present here the study design and analysis framework for assessing the attributable impact of GIRA return. Pre-specified outcomes include (1) provider/participant adoption of recommended healthcare actions, (2) new diagnosis of disease, (3) treatment initiation/intensification, and (4) clinical outcomes (surrogate markers or c

SUBMITTER: Limdi N 

PROVIDER: S-EPMC13087475 | biostudies-literature | 2026 Apr

REPOSITORIES: biostudies-literature