eMERGE is a national network organized and funded by the National Human Genome Research Institute (NHGRI) that combines DNA biorepositories with electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing genomic medicine. eMERGE studies and pilots genomic medicine translation through discovery, implementation, tools, and policy. During Phase I and II, the Network deployed more than 40 electronic phenotype algorithms across more than 55,000 participants with dense genomic data. Returning clinical results has been implemented or planned for pilot at sites across the Network. A large-scale survey of patient attitudes regarding data sharing is being sent to 90,000 clinic patients across the country. A multicenter pilot of returning genome sequence information to electronic medical records (EMRs) for use in healthcare is almost complete. Themes of genomics, bioinformatics, genomic medicine, ethnics, data sharing, privacy, and community engagement are of particular relevance to eMERGE.
eMERGE was initiated in 2007 and included five biorepositories linked to EMRs. The network demonstrated that EMR phenotyping to develop cohorts for genome-wide studies was a robust approach to genetic discovery, defined approaches for enhancing privacy of shared EMR data, and engaged patients and communities in consent and data sharing. eMERGE expanded to include 7 clinical sites in 2011 and 2 pediatric sites in 2012.
eMERGE is openly interested in collaborations. Current external collaborations include the US Air Force, ENCODE, IGNITE, and the larger ELSI (Ethical, Legal, and Social Issues) community. eMERGE is dedicated to developing tools, identifying best practices, and communicating results for participant consent, data sharing, and returning genomic research results,to benefit the broader medical and scientific communities and the general public.