The eMERGE Network

A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

Catherine A. McCarty, Rex L. Chisholm, Christopher G. Chute, Iftikhar J. Kullo, Gail P. Jarvik, Eric B. Larson, Rongling Li, Daniel R. Masys, Marylyn Deriggi Ritchie, Dan M. Roden, Jeffery P. Struewing, Wendy A. Wolf

Research output: Contribution to journalArticle

349 Citations (Scopus)

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.

Original languageEnglish (US)
Article number13
JournalBMC Medical Genomics
Volume4
DOIs
StatePublished - Feb 2 2011

Fingerprint

Electronic Health Records
Genomics
Genome-Wide Association Study
National Human Genome Research Institute (U.S.)
Referral and Consultation
Phenotype
Third-Party Consent
Genome
Medical Informatics
Informatics
Privacy
Peripheral Arterial Disease
Hypothyroidism
Cataract
Type 2 Diabetes Mellitus
Dementia
Meta-Analysis
Research Personnel
Organizations
Hypertension

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

McCarty, C. A., Chisholm, R. L., Chute, C. G., Kullo, I. J., Jarvik, G. P., Larson, E. B., ... Wolf, W. A. (2011). The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Medical Genomics, 4, [13]. https://doi.org/10.1186/1755-8794-4-13
McCarty, Catherine A. ; Chisholm, Rex L. ; Chute, Christopher G. ; Kullo, Iftikhar J. ; Jarvik, Gail P. ; Larson, Eric B. ; Li, Rongling ; Masys, Daniel R. ; Ritchie, Marylyn Deriggi ; Roden, Dan M. ; Struewing, Jeffery P. ; Wolf, Wendy A. / The eMERGE Network : A consortium of biorepositories linked to electronic medical records data for conducting genomic studies. In: BMC Medical Genomics. 2011 ; Vol. 4.
@article{ea216503b1d0486fb255396138268197,
title = "The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies",
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.",
author = "McCarty, {Catherine A.} and Chisholm, {Rex L.} and Chute, {Christopher G.} and Kullo, {Iftikhar J.} and Jarvik, {Gail P.} and Larson, {Eric B.} and Rongling Li and Masys, {Daniel R.} and Ritchie, {Marylyn Deriggi} and Roden, {Dan M.} and Struewing, {Jeffery P.} and Wolf, {Wendy A.}",
year = "2011",
month = "2",
day = "2",
doi = "10.1186/1755-8794-4-13",
language = "English (US)",
volume = "4",
journal = "BMC Medical Genomics",
issn = "1755-8794",
publisher = "BioMed Central",

}

McCarty, CA, Chisholm, RL, Chute, CG, Kullo, IJ, Jarvik, GP, Larson, EB, Li, R, Masys, DR, Ritchie, MD, Roden, DM, Struewing, JP & Wolf, WA 2011, 'The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies', BMC Medical Genomics, vol. 4, 13. https://doi.org/10.1186/1755-8794-4-13

The eMERGE Network : A consortium of biorepositories linked to electronic medical records data for conducting genomic studies. / McCarty, Catherine A.; Chisholm, Rex L.; Chute, Christopher G.; Kullo, Iftikhar J.; Jarvik, Gail P.; Larson, Eric B.; Li, Rongling; Masys, Daniel R.; Ritchie, Marylyn Deriggi; Roden, Dan M.; Struewing, Jeffery P.; Wolf, Wendy A.

In: BMC Medical Genomics, Vol. 4, 13, 02.02.2011.

Research output: Contribution to journalArticle

TY - JOUR

T1 - The eMERGE Network

T2 - A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

AU - McCarty, Catherine A.

AU - Chisholm, Rex L.

AU - Chute, Christopher G.

AU - Kullo, Iftikhar J.

AU - Jarvik, Gail P.

AU - Larson, Eric B.

AU - Li, Rongling

AU - Masys, Daniel R.

AU - Ritchie, Marylyn Deriggi

AU - Roden, Dan M.

AU - Struewing, Jeffery P.

AU - Wolf, Wendy A.

PY - 2011/2/2

Y1 - 2011/2/2

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=79251581866&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79251581866&partnerID=8YFLogxK

U2 - 10.1186/1755-8794-4-13

DO - 10.1186/1755-8794-4-13

M3 - Article

VL - 4

JO - BMC Medical Genomics

JF - BMC Medical Genomics

SN - 1755-8794

M1 - 13

ER -