Returning integrated genomic risk and clinical recommendations: The eMERGE study.

ABSTRACT:

Purpose

Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk.

Methods

To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendati

SUBMITTER: Linder JE 

PROVIDER: S-EPMC10085845 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature