National Human Genome Research Institute

Electronic Medical Records and Genomics (eMERGE) Network

• Background
• Network Members
• Investigative Sites
• Centralized Sequencing and Genotyping CSG) Facilities
• Coordinating Center
• External Scientific Panel
• Network Structure
• Workgroups and Missions
• EMR Characteristics, Biorepository Size and Genotyped/Sequenced Biorepository Samples
• eMERGE Products Dissemination
• Workshops 
• Funding Announcements 
• Contacts 

Background

The Electronic Medical Records and Genomics (eMERGE) Network is a National Institutes of Health (NIH)-organized and funded consortium of U.S. medical research institutions. The Network brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country to conduct research in genomics, including discovery, clinical implementation and public resources (see goals). eMERGE was announced in September 2007 and began its third phase in September 2015.

The primary goal of the eMERGE Network is to develop, disseminate, and apply approaches to research that combine biorepositories with electronic medical record (EMR) systems for genomic discovery and genomic medicine implementation research. In addition, the consortium includes a focus on social and ethical issues such as privacy, confidentiality, and interactions with the broader community.

eMERGE Phase I (September 2007 - July 2011) included five study investigator sites and an administrative coordinating center within one of these sites.  Each site participating in the consortium led studies on the relationship between genetic variation and at least two common traits among the network participants, using the technique of genome-wide association analysis (RFA-HG-07-005). Such studies involve testing hundreds of thousands of genetic variants called single nucleotide polymorphisms (SNPs) throughout the genome in people with and without a condition of interest. eMERGE Phase I sought to answer the question of whether electronic medical record (EMR) systems and biorepositories can serve as resources for such complex genome-wide association studies (GWAS) of disease susceptibility and therapeutic outcomes.

eMERGE Phase II (August 2011 - July 2015) expanded the network to include nine study investigator sites (including two pediatric sites) and a coordinating center.  In addition to the continuation of GWAS studies for genomic variant discovery, the consortium sought to explore the best avenues to incorporate genetics variants into EMR for use in clinical care, to improve genetic risk assessment, prevention, diagnosis, and treatment, as well as accessibility of genomic medicine (RFA-HG-10-009, RFA-HG-10-010, and RFA-HG-11-022). eMERGE Phase II continued to develop algorithms for electronic phenotyping and to identify genomic variants associated with those phenotypes. eMERGE Phase II conducted two sets of clinical implementation pilot studies: 1) site specific pilots, and 2) the eMERGE network pharmacogenomics (eMERGE PGx) project, which sequenced 84 pharmacogenomics candidate genes in over 9,000 participants. Consent, education, regulation and consultation - important issues related to the use of genomic data in clinical care - were also addressed.

eMERGE Phase III (September 2015 - May 2019) consists of nine study sites, two central sequencing and genotyping facilities, and a coordinating center. eMERGE III aims to continue to develop and validate electronic phenotyping algorithms for large-scale, high-throughput genomics research; to discover genetic variants related to complex traits; to disseminate results and lessons learned to the scientific community; and to deliver state-of-the-art genomic knowledge, methods, and approaches to clinical decision support and clinical care.  More specifically, eMERGE Phase III aims to: 1) sequence and assess the phenotypic implication of rare variants in ~100 clinically relevant genes presumed to affect gene function in about 25,000 individuals; 2) assess the phenotypic implications of these variants, 3)integrate genetic variants into EMRs for clinical care; and 4) create community resources (RFA-HG-14-025, RFA-HG-14-026, RFA-HG-14-027). Work on the eMERGE PGx project from eMERGE II will also continue in eMERGE III.  In addition, eMERGE III will continue to assess health impact, cost effectiveness, and ethical, legal and social implications of reporting genetic variants on a broader population scale for patients, clinicians and healthcare institutions.

As eMERGE has become increasingly well-known in the scientific community, a wide range of institutions have become interested in collaboration with eMERGE, especially since genomic research and return of genomic results have become more high profile. To facilitate collaboration, external institutions may apply for affiliate membershipto the eMERGE Network. Information about affiliate membership such as benefits, criteria for participation, and application process can be found at the eMERGE webpage.

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Network Members

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Investigative Sites

• Brigham and Women's Hospital with Massachusetts General Hospital [partners.org]
  Principal Investigator (PI): Scott Weiss, M.D., M.S.
  Principal Investigator (PI): Elizabeth Karlson, M.D.
  Principal Investigator (PI): Shawn Murphy, M.D., Ph.D.
  Principal Investigator (PI): Jordan Smoller, M.D., Sc.D.
  (Phase III)
   
• Cincinnati Children's Hospital Medical Center [cincinnatichildrens.org]
  Boston Children's Hospital [childrenshospital.org]
  Principal Investigator (PI): John Harley, M.D., Ph.D.
  (Phase II-III)
   
• Children's Hospital of Philadelphia [chop.edu]
  Principal Investigator (PI): Hakon Hakonarson, M.D.
  (Phase II-III) 
   
• Columbia University [columbia.edu]
  Principal Investigator (PI): Chunhua Weng, Ph.D.
  Principal Investigator (PI): George Hripcsak, M.D.
  Principal Investigator (PI): Ali Gharavi, M.D.
  (Phase III)
   
• Geisinger [geisinger.org]
  Principal Investigator (PI): Marc Williams, M.D.
  Principal Investigator (PI): Marylyn Ritchie, Ph.D.
  (Phase II-III)
   
• Group Health Cooperative with the University of Washington [ghc.org]
  Principal Investigator (PI): Eric Larson, M.D., M.P.H.
  Principal Investigator (PI): Gail Jarvik, M.D., Ph.D.
  (Phase I-III)
                                                    
• Marshfield Clinic [marshfieldclinic.org]
  Principal Investigator (PI): Cathy McCarty, Ph.D., M.P.H.
  (Phase I-II)
   
• Mayo Clinic [mayoclinic.com]
  Principal Investigator (PI): Iftikhar Kullo, M.D.
  Principal Investigator (PI): Stephen Thibodeau, Ph.D.
  (Phase I-III)
   
• Mount Sinai School of Medicine [icahn.mssm.edu]
  Principal Investigator (PI): Ewin Bottinger, M.D.
  (Phase II)
   
• Northwestern University [northwestern.edu]
  Principal Investigator (PI): Rex Chisholm, Ph.D.
  Principal Investigator (PI): Maureen Smith, M.S., C.G.C.
  (Phase I-III)
   
• Vanderbilt University [vanderbilt.edu]
  Principal Investigator (PI): Dan Roden, M.D.
  Principal Investigator (PI): Joshua Denny, M.D., M.S.
  (Phase I-III)

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Centralized Sequencing and Genotyping (CSG) Facilities

• Brigham and Women's Hospital with the Broad Institute [broadinstitute.org]
  Principal Investigator (PI): Heidi Rehm, Ph.D.
  Principal Investigator (PI): Birgit Funke, Ph.D.
  Principal Investigator (PI): Stacey Gabriel, Ph.D.
  (Phase III)
   
• Baylor College of Medicine [bcm.edu]
  Principal Investigator (PI): Richard Gibbs, Ph.D.
  (Phase III)

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Coordinating Center (CC)

• The eMERGE Coordinating Center at Vanderbilt University [vanderbilt.edu]
  Principal Investigator (PI): Paul Harris, Ph.D.
  (Phase II-III)

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External Scientific Panel

• Howard McLeod (Chair): Moffitt Cancer Center
• Eta Berner: University of Alabama, Birmingham
• Kim Doheny: Johns Hopkins University
• Gerardo Heiss: University of North Carolina, Chapel Hill
• Stan Huff: Intermountain Healthcare
• Lisa Parker: University of Pittsburgh
• Vandana Shashi: Duke University

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Network Structure

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Workgroups and Missions

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EMR characteristics, biorepository size, and genotyped/sequenced biorepository samples at the beginning of eMERGE III

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eMERGE Products Dissemination

• Software and Tools
  • PheKB
  • eRecordCounter
  • MyResults
  • eMERGE SPHINX
  • eleMaP
  • Model Consent
  • PheWAS Catalog
• Network Publications and citation analyses

Workshops

• eMERGE & CSER: The Convergence of Genomics and Medicine 
  February 2, 2017
   
• Future Directions for the eMERGE Network
  January 22, 2014

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Funding Announcements

1. RFA-HG-14-025 [grants.nih.gov]: The Electronic Medical Records and Genomics (eMERGE) Network, Phase III - Study Investigators (U01) 
2. RFA-HG-14-026 [grants.nih.gov]: The Electronic Medical Records and Genomics (eMERGE) Network, Phase III - Coordinating Center (U01) 
3. RFA-HG-14-027 [grants.nih.gov]: The Electronic Medical Records and Genomics (eMERGE) Network, Phase III - Central Genome Sequencing and Genotyping Facility (U01) 
4. RFA-HG-11-022: [grants.nih.gov] The Electronic Medical Records and Genomics (eMERGE) Network, Phase II - Pediatric Study Investigators (U01)
5. RFA HG-10-010: [grants.nih.gov] The Electronic Medical Records and Genomics (eMERGE) Network, Phase II - Coordinating Center (U01)
6. RFA HG-10-009: [grants.nih.gov] The Electronic Medical Records and Genomics (eMERGE) Network, Phase II - Study Investigators (U01)
7. RFA-HG-07-005: [grants.nih.gov] Genome-Wide Studies in Biorepositories with Electronic Medical Record Data (U01)

Frequently Asked Questions 
for the Electronic Medical Records and Genomics (eMERGE) Network, Phase III RFAs 

Frequently Asked Questions 
for RFA - HG-11-022: The Electronic Medical Records and Genomics (eMERGE) Network, Phase II - Pediatric Study Investigators (U01)

Frequently Asked Questions 
for RFA - HG-10-009: The Electronic Medical Records and Genomics (eMERGE) Network, Phase II - Study Investigators (U01)

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Contacts

Rongling Li, NHGRI
Ken Wiley, NHGRI
Jyoti Gupta, NHGRI
Sheethal Jose, NHGRI

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Last Updated: January 30, 2017