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Electronic Medical Records and Genomics (eMERGE) Network

The EMERGE Network develops, disseminates, and applies approaches to research that combine biorepositories with electronic medical record systems for genomic discovery and genomic medicine implementation research.

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-10-009RFA-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-14-025RFA-HG-14-026RFA-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.

  • 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-10-009RFA-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-14-025RFA-HG-14-026RFA-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.

Participants and Structure

eMERGE Members

Investigative Sites

Centralized Sequencing and Genotyping (CSG) Facilities

Coordinating Center (CC)

External Scientific Panel

Network Structure

 

eMERGE Structure

Workgroups and Missions

Working Group Co-Chairs Goals
Clinical Annotation Working Group Heidi Rehm and 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 and Casey Overby
  • Establish, document, and seek to continuously improve process flows for delivery of eMERGE reports and data
  • Experiment with and evaluate the effectiveness of innovative approaches that go beyond core requirements
  • Liaise with other groups, engage in collaborative projects, and disseminate learning and best practices
Genomics David Crosslin, Patrick Sleiman, and 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 Hakon Hakonarson, Josh Peterson, and Marc Williams
  • Develop cross-site outcomes to track implementation and impact of eMERGE III sequencing
  • Focus on answering the overarching question of whether eMERGE III–generated genomic results change health care utilization and affect patients and families
PGx Laura Rasmussen-Torvik and Cindy Prows
  • Deploy the PGRN-Seq platform across eMERGE
  • Integrate validated genotypes into the EMR and assess uptake, acceptance, and clinical impact
  • Develop a repository of variants of unknown significance
Phenotyping George Hripcsak and Peggy Peissig
  • Carry out core functions in eMERGE III phenotyping and advance the science of phenotype development
Return of Results / ELSI Ingrid Holm and 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 (particularly incorporation into the EHR)
  • Workgroups and Missions
    Working Group Co-Chairs Goals
    Clinical Annotation Working Group Heidi Rehm and 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 and Casey Overby
    • Establish, document, and seek to continuously improve process flows for delivery of eMERGE reports and data
    • Experiment with and evaluate the effectiveness of innovative approaches that go beyond core requirements
    • Liaise with other groups, engage in collaborative projects, and disseminate learning and best practices
    Genomics David Crosslin, Patrick Sleiman, and 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 Hakon Hakonarson, Josh Peterson, and Marc Williams
    • Develop cross-site outcomes to track implementation and impact of eMERGE III sequencing
    • Focus on answering the overarching question of whether eMERGE III–generated genomic results change health care utilization and affect patients and families
    PGx Laura Rasmussen-Torvik and Cindy Prows
    • Deploy the PGRN-Seq platform across eMERGE
    • Integrate validated genotypes into the EMR and assess uptake, acceptance, and clinical impact
    • Develop a repository of variants of unknown significance
    Phenotyping George Hripcsak and Peggy Peissig
    • Carry out core functions in eMERGE III phenotyping and advance the science of phenotype development
    Return of Results / ELSI Ingrid Holm and 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 (particularly incorporation into the EHR)

EMR and Biorepository Information

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

 

Two pie charts

  • EMR and Biorepository Information
    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

     

    Two pie charts

Funding Opportunities

  • NOT-HG-19-023 Notice of Pre-Application Webinars for The Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, Clinical Sites (RFA-HG-19-013), Enhanced Diversity Clinical Sites (RFA-HG-19-014), and Coordinating Center (RFA-HG-

  • RFA-HG-14-025 The Electronic Medical Records and Genomics (eMERGE) Network, Phase III Study Investigators (U01) (Expired)
    Expiration Date: Nov 13, 2014

    • NOT-HG-14-033 Notice of Frequently Asked Questions (FAQs) for the Electronic Medical Records and Genomics (eMERGE) Network, Phase III, RFA-HG-14-025, RFA-HG-14-026, RFA-HG-14-027

  • RFA-HG-11-022 The Electronic Medical Records and Genomics (eMERGE) Network, Phase II Pediatric Study Investigators (U01) (Expired)
    Expiration Date: Sep 14, 2011

    • NOT-HG-11-027 Frequently Asked Questions (FAQs) for RFA-HG-11-022 - The Electronic Medical Records and Genomics (eMERGE) Network, Phase II - Pediatric Study Investigators (U01)

  • RFA-HG-10-009 The Electronic Medical Records and Genomics (eMERGE) Network, Phase II Study Investigators (U01) (Expired)
    Expiration Date: Nov 18, 2010

    • NOT-HG-10-020 Notice of Frequently Asked Questions (FAQs) for RFA-HG-10-009-The Electronic Medical Records and Genomics (eMERGE) Network, Phase II-Study Investigators (U01)

    • NOT-HG-11-023 Notice of Intent to Publish a Request for Applications for The Electronic Medical Records and Genomics (eMERGE) Network - Pediatric Study Investigators (U01)

    • NOT-HG-11-027 Frequently Asked Questions (FAQs) for RFA-HG-11-022 - The Electronic Medical Records and Genomics (eMERGE) Network, Phase II - Pediatric Study Investigators (U01)

Program Staff

Robb Rowley
Robb Rowley, M.D.
  • Program Director
  • Division of Genomic Medicine
Jyoti Dayal, M.S.
Jyoti G. Dayal, M.S.
  • Program Director
  • Division of Genomic Medicine
Ken Wiley, Jr., Ph.D.
Ken Wiley Jr, Ph.D.
  • Program Director
  • Division of Genomic Medicine

Last updated: August 21, 2019