NIH

Electronic Medical Records and Genomics (eMERGE) Network

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.

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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

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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

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Coordinating Center (CC)

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External Scientific Panel

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Network Structure

Organization Chart

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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.

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

Institution

EMR system

Biobank size

Number of Genotyped/Sequenced Samples contributed

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

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eMERGE Products Dissemination

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Workshop

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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: September 27, 2016

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The eMERGE (Electronic Medical Records and Genomics) Network