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.
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.
Participants and Structure
- Brigham and Women's Hospital with Massachusetts General Hospital
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.
- Cincinnati Children's Hospital Medical Center
Boston Children's Hospital [childrenshospital.org]
Principal Investigator (PI): John Harley, M.D., Ph.D.
- Children's Hospital of Philadelphia
Principal Investigator (PI): Hakon Hakonarson, M.D.
- Columbia University
Principal Investigator (PI): Chunhua Weng, Ph.D.
Principal Investigator (PI): George Hripcsak, M.D.
Principal Investigator (PI): Ali Gharavi, M.D.
Principal Investigator (PI): Marc Williams, M.D.
Principal Investigator (PI): Marylyn Ritchie, Ph.D.
- Kaiser Permanente Washington
Principal Investigator (PI): Eric Larson, M.D., M.P.H.
Principal Investigator (PI): Gail Jarvik, M.D., Ph.D.
- Marshfield Clinic
Principal Investigator (PI): Cathy McCarty, Ph.D., M.P.H.
- Mayo Clinic
Principal Investigator (PI): Iftikhar Kullo, M.D.
Principal Investigator (PI): Stephen Thibodeau, Ph.D.
- Meharry Medical College
Principal Investigator (PI): Samuel Adunyah, Ph.D.
- Mount Sinai School of Medicine
Principal Investigator (PI): Ewin Bottinger, M.D.
- Northwestern University
Principal Investigator (PI): Rex Chisholm, Ph.D.
Principal Investigator (PI): Maureen Smith, M.S., C.G.C.
- Vanderbilt University
Principal Investigator (PI): Dan Roden, M.D.
Principal Investigator (PI): Joshua Denny, M.D., M.S.
Centralized Sequencing and Genotyping (CSG) Facilities
- Brigham and Women's Hospital with the Broad Institute
Principal Investigator (PI): Heidi Rehm, Ph.D.
Principal Investigator (PI): Birgit Funke, Ph.D.
Principal Investigator (PI): Stacey Gabriel, Ph.D.
- Baylor College of Medicine
Principal Investigator (PI): Richard Gibbs, Ph.D.
Coordinating Center (CC)
- The eMERGE Coordinating Center at Vanderbilt University
Principal Investigator (PI): Paul Harris, Ph.D.
External Scientific Panel
- 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
- Brigham and Women's Hospital with Massachusetts General Hospital
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
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-
Last updated: February 23, 2020