Electronic Medical Records and Genomics (eMERGE)

The Electronic Medical Records and Genomics (eMERGE) Network is a National Institutes of Health (NIH)-organized and funded consortium of U.S. medical research institutions. The Network brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country to conduct research in genomics, including discovery, clinical implementation and public resources (see goals). eMERGE was announced in September 2007 and began its third phase in September 2015.

The primary goal of the eMERGE Network is to develop, disseminate, and apply approaches to research that combine biorepositories with electronic medical record (EMR) systems for genomic discovery and genomic medicine implementation research. In addition, the consortium includes a focus on social and ethical issues such as privacy, confidentiality, and interactions with the broader community.

eMERGE network members

The eMERGE Phase III aims to develop and validate electronic phenotyping algorithms for large-scale, high-throughput genomics research; to discover genetic variants related to complex traits; to disseminate results and lessons learned to the scientific community; and to deliver state-of-the-art genomic knowledge, methods, and approaches to clinical decision support and clinical care.  One of the major goals of the eMERGE Network during Phase III is to identify rare variants with presumed major impact on function in a cohort of 25,000 participants across the Network.  The Network created an eMERGE specific sequencing platform of 109 genes and 1,551 SNVs  that is used to sequence participants at the individual sites. 

To support eMERGE Phase III, Human Genome Sequencing Center Clinical Laboratory is providing sequencing service for 14,500 study participants, variant calling, annotation and confirmation, interpretation and reporting.

Related Publications

Aronson S, Babb L, Ames D, Gibbs RA, Venner E, Connelly JJ, et al. Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example. J Am Med Inform Assoc. 2018 ;.

Venner E, Leduc MS, Bainbridge MN, Wu T-J, Kovar C, Chiang T, et al. Generating Clinical Reports from Genomic Data on the Cloud-based Neptune Platform [Internet]. Phoenix: ACMG Annual Clinical Genetics Meeting 2017; 2017. http://epostersonline.com/acmg2017/node/2480

Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, et al. Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther. 2014 ;96(4):482-9.