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

Omri Gottesman(Icahn School of Medicine at Mount Sinai), Helena Kuivaniemi(Geisinger Medical Center), Gerard Tromp(Geisinger Medical Center), W. Andrew Faucett(Geisinger Medical Center), Rongling Li(National Human Genome Research Institute), Teri A. Manolio(National Human Genome Research Institute), Saskia C. Sanderson(Icahn School of Medicine at Mount Sinai), Joseph Kannry(Icahn School of Medicine at Mount Sinai), Randi E. Zinberg(Icahn School of Medicine at Mount Sinai), Melissa Basford(Vanderbilt University Medical Center), Murray H. Brilliant(Marshfield Clinic), David J. Carey(Geisinger Medical Center), Rex L. Chisholm(Northwestern University), Christopher G. Chute(Mayo Clinic), John J. Connolly(Children's Hospital of Philadelphia), David R. Crosslin(University of Washington), Joshua C. Denny(Vanderbilt University), Carlos J. Gallego(University of Washington Medical Center), Jonathan L. Haines(Vanderbilt University), Håkon Håkonarson(Children's Hospital of Philadelphia), John B. Harley(Cincinnati Children's Hospital Medical Center), Gail P. Jarvik(University of Washington), Isaac S. Kohane(Harvard University Press), Iftikhar J. Kullo(Mayo Clinic), Eric B. Larson(Kaiser Permanente Washington Health Research Institute), Catherine A. McCarty(Instytut Medycyny Wsi im. Witolda Chodźki), Marylyn D. Ritchie(Pennsylvania State University), Dan M. Roden(Vanderbilt University Medical Center), Maureen E. Smith(Northwestern University), Erwin P. Böttinger(Icahn School of Medicine at Mount Sinai), Marc S. Williams(Geisinger Medical Center)
Genetics in Medicine
June 6, 2013
Cited by 739Open Access
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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.


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