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

Publication ,  Journal Article
McCarty, CA; Chisholm, RL; Chute, CG; Kullo, IJ; Jarvik, GP; Larson, EB; Li, R; Masys, DR; Ritchie, MD; Roden, DM; Struewing, JP; Wolf, WA ...
Published in: BMC Med Genomics
January 26, 2011

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.

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Published In

BMC Med Genomics

DOI

EISSN

1755-8794

Publication Date

January 26, 2011

Volume

4

Start / End Page

13

Location

England

Related Subject Headings

  • United States
  • Population Groups
  • Peripheral Arterial Disease
  • National Human Genome Research Institute (U.S.)
  • Hypertension
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genome
  • Genetics & Heredity
 

Citation

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McCarty, C. A., Chisholm, R. L., Chute, C. G., Kullo, I. J., Jarvik, G. P., Larson, E. B., … eMERGE Team, . (2011). The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics, 4, 13. https://doi.org/10.1186/1755-8794-4-13
McCarty, Catherine A., Rex L. Chisholm, Christopher G. Chute, Iftikhar J. Kullo, Gail P. Jarvik, Eric B. Larson, Rongling Li, et al. “The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies.BMC Med Genomics 4 (January 26, 2011): 13. https://doi.org/10.1186/1755-8794-4-13.
McCarty CA, Chisholm RL, Chute CG, Kullo IJ, Jarvik GP, Larson EB, et al. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics. 2011 Jan 26;4:13.
McCarty, Catherine A., et al. “The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies.BMC Med Genomics, vol. 4, Jan. 2011, p. 13. Pubmed, doi:10.1186/1755-8794-4-13.
McCarty CA, Chisholm RL, Chute CG, Kullo IJ, Jarvik GP, Larson EB, Li R, Masys DR, Ritchie MD, Roden DM, Struewing JP, Wolf WA, eMERGE Team. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics. 2011 Jan 26;4:13.
Journal cover image

Published In

BMC Med Genomics

DOI

EISSN

1755-8794

Publication Date

January 26, 2011

Volume

4

Start / End Page

13

Location

England

Related Subject Headings

  • United States
  • Population Groups
  • Peripheral Arterial Disease
  • National Human Genome Research Institute (U.S.)
  • Hypertension
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genome
  • Genetics & Heredity