The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

Abstract

The Electronic Medical Records and Genomics Network is a National Human Genome Research Institute-funded consortium engaged in the development of methods and best practices for using the electronic medical record as a tool for genomic research. Now in its sixth year and second funding cycle, and comprising nine research groups and a coordinating center, the network has played a major role in validating the concept that clinical data derived from electronic medical records can be used successfully for genomic research. Current work is advancing knowledge in multiple disciplines at the intersection of genomics and health-care informatics, particularly for electronic phenotyping, genome-wide association studies, genomic medicine implementation, and the ethical and regulatory issues associated with genomics research and returning results to study participants. Here, we describe the evolution, accomplishments, opportunities, and challenges of the network from its inception as a five-group consortium focused on genotype-phenotype associations for genomic discovery to its current form as a nine-group consortium pivoting toward the implementation of genomic medicine.

Figure 1

Locations of member sites, affiliates, and support and service centers of the eMERGE Network. Red color indicates the nine members of eMERGE- II, gray color indicates the eMERGE Coordinating Center, blue color indicates an eMERGE affiliate or subcontract site, and black color indicates centers that provide services and support to eMERGE. eMERGE, Electronic Medical Records and Genomics.

Figure 2

Outline of the activities in the eMERGE Network. The main activities of the network and how they are integrated together are summarized. See text for details. eMERGE, Electronic Medical Records and Genomics; EMR, electronic medical record; GWAS, genome-wide association studies.

Figure 3

Structure of eMERGE Network. The Steering Committee, composed of the principal investigators from each institution and the NIH Project Scientist, is the governing body for the consortium. The External Scientific Panel provides input to the NHGRI director about the progress and direction of the network. The Coordinating Center provides centralized support and infrastructure. Genotyping Centers provide genotyping under CLIA certification for clinically actionable genetic variants. For details on the activities by the workgroups listed at the bottom of the figure, please see the main text. CLIA, Clinical Laboratory Improvement Amendments; eMERGE, Electronic Medical Records and Genomics; NHGRI, National Human Genome Research Institute; NIH, National Institutes of Health.