eMERGE Research Overview

"The Electronic Medical Records and Genomics (eMERGE) Network is a consortium that combines DNA biorepositories with electronic health record (EHR) systems for large-scale, high-throughput genetic research and is funded by the National Institutes of Health. Now in its fourth funding cycle, eMERGE IV, the national network aims to recruit 25,000 individuals of diverse ancestry for genomics-integrated risk assessment.

Genomic risk assessment is a process to quantitatively assess an individual’s probability of developing a particular disorder using mathematical or statistical models and incorporating such factors as allele frequencies of known genomic risk variants, personal health history, family medical history, physical characteristics, and laboratory measurements.

The eMERGE IV project will use EHR-based methods to communicate genomic risk factors, and the study teams will assess uptake of risk-reduction recommendations and impact on clinical outcomes.

The Center for Applied Genomics (CAG) at Children’s Hospital of Philadelphia will focus on five areas of research, as part of the eMERGE Network.