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Division of Genomic Medicine Current Research Programs

Electronic Medical Records and Genomics (eMERGE) Network

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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 membershipPDF fileto the eMERGE Network. Information about affiliate membership such as benefits, criteria for participation, and application process can be found at the eMERGE webpage.

 

Network Members

UW Medicine Group Health, Mayo Clinic, Northwestern Medicine, Cincinnati Children's, Geisinger, Broad Institute Sequencing Center, Harvard University, Columbia University, The Children's Hospital of Philadelphia, National Human Genome Research Institute, Vanderbilt University Medical Center and Coordinating Center, Baylor College of Medicine Sequencing Center

 

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)

 

Centralized Sequencing and Genotyping (CSG) Facilities

 

Coordinating Center (CC)

Top of page

External Scientific Panel

 

Network Structure

Organization Chart

 

Workgroups and Missions

Working Group Co-Chairs Goals
Clinical Annotation Working Group Heidi Rehm & Gail Jarvik
  • Focus on activities that build consistency of approaches to the gene and variant interpretation across the eMERGE sequencing centers and study sites
  • Support contribution to public knowledge bases
EHR Integration Sandy Aronson & Casey Overby
  • Establish, document and seek to continuously improve process flows for delivery of eMERGE reports and data
  •  Experiment with innovative approaches that go beyond core requirements and evaluate their effectiveness
  • Liaise with other groups, engage in collaborative projects, disseminate learning and best practice
Genomics Sekar Kathiresan & Megan Roy-Puckelwartz
  • Identify best practices and facilitate analyses to assess the phenotypic impact of common and rare variant data arising from eMERGE II and III.
Outcomes and PGx Hakon Hakonarson & Josh Peterson
  • Develop cross-site outcomes to track implementation and impact of eMERGE III sequencing.
  • Try to answer the overarching question of whether eMERGE III generated genomic results change health care utilization and impacts patients and families.
Phenotyping Josh Denny & George Hripcsak
  • Carry out core functions in eMERGE III phenotyping and advance the science of phenotype development.
Return of Results / ELSI Ingrid Holm & Iftikhar Kullo
  • Develop and identify categories and thresholds of actionability.
  • Assess ways to address the dynamic nature of genetic knowledge.
  • Assess the ethical, legal and social implications of returning results in eMERGE III, in particular incorporation into the EHR.

 

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

Institution EMR System Biobank Size Biobank Size
Group Health, University of Washington Epic EMR since 2003 8,073 participants 6,259
Harvard/Partners HealthCare Internally developed EMR since 1997, Epic EMR since 2015 25,000 fully consented participants 4,930
Vanderbilt University Internally developed EMR (StarChart) since the late 1990s More than 210,000 participants 27,173
Cincinnati Children's Hospital Medical Center Epic EMR 59,289 patients 6,103
Geisinger Health System Epic EMR since 1996 >95,000 consented participants 61,816
Mayo Clinic GE Centricity  and Cerner 60,000 participants 7,881
Columbia University Allscripts inpatient/outpatient and iNYP customer platform 26,310 individuals 3,087
Children's Hospital of Philadelphia Epic EMR since 2001 80,000 participants 8,633
Northwestern University Epic outpatient and Cerner inpatient EMRS 11,667 participants 6,513

 

 

Race and Age pie charts. Race: 77.70% White, 16.07% African American, 4.99% Unknown/Mixed Race, 0.98% Asian, 0.23% American Indian/Native American, 0.02% Native Hawaiian/Pacific Islander. Age: 84% Adult, 16% Peditric

eMERGE Products Dissemination

Workshops

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)

Contacts

Sheethal Jose, NHGRI
Jyoti Gupta, NHGRI
Robb Rowley, NHGRI
Ken Wiley, NHGRI

Last Updated: February 14, 2019

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The eMERGE (Electronic Medical Records and Genomics) Network