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Open Access Highly Accessed Correspondence

The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

Catherine A McCarty1*, Rex L Chisholm2, Christopher G Chute3, Iftikhar J Kullo4, Gail P Jarvik5, Eric B Larson6, Rongling Li7, Daniel R Masys8, Marylyn D Ritchie9, Dan M Roden10, Jeffery P Struewing7, Wendy A Wolf2 and the eMERGE Team

Author Affiliations

1 Center for Human Genetics, Marshfield Clinic Research Foundation, 1000 North Oak Avenue (MLR), Marshfield, WI, 54449, USA

2 Center for Genetic Medicine, Northwestern University, 303 East Superior Street, Chicago, IL, 60611, USA

3 Division of Biomedical Statistics and Informatics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA

4 Division of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA

5 Department of Genome Sciences, University of Washington, 3720 15th Ave NE, Seattle WA 98195, USA

6 Group Health Research Institute, 1730 Minor Avenue, Suite 1600, Seattle, WA, 98101, USA

7 Office of Population Genomics, National Human Genome Research Institute, 5635 Fishers Lane, Suite 3058, MSC 9307, Bethesda, MD, 20892-9307, USA

8 Department of Biomedical Informatics, Vanderbilt University School of Medicine, Room 416 Eskind Medical Library, Nashville, TN, 37232, USA

9 Center for Human Genetics Research, Vanderbilt University School of Medicine; 519 Light Hall, Nashville, IN 37231, USA

10 Department of Pharmacology, Vanderbilt University School of Medicine, 1285 Medical Research Building IV, Nashville, TN, 37232, USA

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BMC Medical Genomics 2011, 4:13  doi:10.1186/1755-8794-4-13

Published: 26 January 2011

Abstract

Introduction

The eMERGE (electronic MEdical Records and GEnomics) Network is an NHGRI-supported consortium of five institutions to explore the utility of DNA repositories coupled to Electronic Medical Record (EMR) systems for advancing discovery in genome science. eMERGE also includes a special emphasis on the ethical, legal and social issues related to these endeavors.

Organization

The five sites are supported by an Administrative Coordinating Center. Setting of network goals is initiated by working groups: (1) Genomics, (2) Informatics, and (3) Consent & Community Consultation, which also includes active participation by investigators outside the eMERGE funded sites, and (4) Return of Results Oversight Committee. The Steering Committee, comprised of site PIs and representatives and NHGRI staff, meet three times per year, once per year with the External Scientific Panel.

Current progress

The primary site-specific phenotypes for which samples have undergone genome-wide association study (GWAS) genotyping are cataract and HDL, dementia, electrocardiographic QRS duration, peripheral arterial disease, and type 2 diabetes. A GWAS is also being undertaken for resistant hypertension in ≈2,000 additional samples identified across the network sites, to be added to data available for samples already genotyped. Funded by ARRA supplements, secondary phenotypes have been added at all sites to leverage the genotyping data, and hypothyroidism is being analyzed as a cross-network phenotype. Results are being posted in dbGaP. Other key eMERGE activities include evaluation of the issues associated with cross-site deployment of common algorithms to identify cases and controls in EMRs, data privacy of genomic and clinically-derived data, developing approaches for large-scale meta-analysis of GWAS data across five sites, and a community consultation and consent initiative at each site.

Future activities

Plans are underway to expand the network in diversity of populations and incorporation of GWAS findings into clinical care.

Summary

By combining advanced clinical informatics, genome science, and community consultation, eMERGE represents a first step in the development of data-driven approaches to incorporate genomic information into routine healthcare delivery.