OPG: Research Programs

Electronic Medical Records and Genomics (eMERGE) Network

Background

The Electronic Medical Records and Genomics (eMERGE) Network was announced in September 2007 (RFA HG-07-005). It 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 achieve its overall goals.

The primary goal of the eMERGE Network is to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research. In eMERGE Phase I (September 2007 - July 2011), each institution participating in the consortium led the studies of the relationship between genetic variation and at least two common human traits among the network participants, using the technique of genome-wide association analysis. 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. A fundamental question is whether electronic medical record (EMR) systems can serve as resources for such complex genomic analysis of disease susceptibility and therapeutic outcomes, across diverse patient populations. In addition, the consortium includes a focus on social and ethical issues such as privacy, confidentiality, and interactions with the broader community. During the past four years, the network has established a rich culture of collaboration. During Phase I, the network established a rich culture of collaboration.

Given the success of eMERGE Phase I, the eMERGE Network has transitioned to Phase II (August 2011 - July 2015). A key goal of eMERGE Phase II is to explore the best avenues to incorporate genetic variants into EMR for use in clinical care such as improvement of genetic risk assessment, prevention, diagnosis, treatment, and/or accessibility of genomic medicine (RFA-HG-10-009 and RFA-HG-10-010). Consent, education, regulation and consultation issues related to the use of genomic data in clinical care will also be studied. eMERGE continues to discover genomic variants associated with clinical conditions identified using EMRs and to develop algorithms for electronic phenotyping. To expand the number and diversity of participating eMERGE sites under the currently available budget, two new sites that include racial/ethnic minorities and rural populations were included in the eMERGE Network in 2011. In August 2012, two new sites that include pediatric populations were included in the eMERGE Network.

As eMERGE has become increasingly known in the scientific community, a wide range of institutions are interested in collaboration with eMERGE given that genomic research in biorepositories linked to electronic medical records and application of genomic results to clinical care has been or will be initiated in those institutions. To facilitate collaboration, external institutions may apply for affiliate membership to 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

Map of eMERGE Phase II Network Members

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Sites in Phases I and II

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Additional Sites in Phase II

Additional Pediatric Sites in Phase II

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External Scientific Panel

  • Howard McLeod (Chair): University of North Carolina, Chapel Hill
  • Eta Berner: University of Alabama, Birmingham
  • Jeffrey Botkin: University of Utah
  • Charis Eng: Cleveland Clinic Foundation
  • Gerardo Heiss: University of North Carolina, Chapel Hill
  • Stan Huff: Intermountain Healthcare
  • Jeff Murray: University of Iowa
  • Lisa Parker: University of Pittsburgh

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Network Structure

Chart showing Steering Committee in center; NHGRI, Coordinating Center and Genotyping Center around
  • The Steering Committee is the governing body for the consortium and is composed of the Principal Investigators from each institution and the NIH Project Scientist.
  • An External Scientific Panel provides input to the NHGRI Director about the progress and direction of the Network.
  • The Coordinating Center provides centralized support and infrastructure for eMERGE Phase II programs.
  • The Genotyping Centers provide genotyping service under CLIA certification for clinical actionable genetic variants.
  • The Consent, Education, Regulation, and Consultation (CERC) group explores models for informing patients, physicians, and the public about the proper use of genomic data and return of clinically relevant findings.
  • The Electronic Health Records (EHR) Integration group focuses on creating standards for representing genomic data and developing clinical-decision support tools for its use.
  • The Genomics workgroup reviews site-specific genotyping data, performs quality control procedures, and imputes genotyping data for inclusion in network-wide analyses.
  • The Phenotyping workgroup identifies efficient, effective, and transportable phenotyping methods in order to complete Network phenotyping.
  • The Return of Results workgroup defines standards for clinical actionability and determines what genetic variants meet these standards.
  • The eMERGE-PGx Initiative is a Network collaboration with Pharmacogenomics Research Network (PGRN) that seeks to return pharmacogenomic variants of known significance to EMRs for clinical care and to identify pharmacogenomic variants of unknown significance.

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Phase II Network biorespositories, EMR Characteristics, and study samples

Institution Repository size and race/ethnic distribution EMR description GWA study size (female participation) Genotyping methods Primary Phenotype
Children's Hospital of Philadelphia 40,000
51% EA,
38% AA,
4% Asian,
6%HL		 Epic EMR since 2001 8,000
(50% female)		 Illumina 550
610Q, 660W,
or Affymetrix
6.0, DMET		 Gastroesophageal
reflux disease (GERD),
asthma, atopic
dermatitis, attention-
deficit hyperactivity
disorder (ADHD), lipids
Cincinnati Children's Hospital Medical Center, Boston Children's Hospital Combined: 40,000

83.8% EA,
9.8% AA,
3.3% HL,
2.1% Asian,
3.1% other 		CCHMC:
Epic EMR
since early
2000s

BCH:
Cerner
since early
1990s		 5,586
(41.9%
female)		 Affymetrix
6.0, 550 or
Illumina 660W
Quad,
1M-Duo,
1M-Quad,
OMNI-1,
OMNI-5 		Autism, eosinophilic
esophagitis, absence
seizures, hypertrophic
left heart, juvenile
idiopathic arthritis
Geisinger Health System 19,650;
99.4% EA		 Epic EMR since 1996 4,191
(47.5% female)		 Illumina
OmniExpress
or Metabochip 		Abdominal Aortic
Aneurysm (AAA),
Extreme Obesity
and Related Conditions, and Anti-Psychotic Induced
Weight Gain
Group Health, University of Washington
91% EA,
3.7% EA,
3.7%AA
2.8% Asian,
3.5% other		 EpicCare EMR since 2004 3,575
(57% female) 		Illumina
660W-Quad
or OmniExpress		 Dementia, White Blood Cell
Indices, drug
response, infectious
disease susceptibility,
longitudinal traits, and
incidental findings of
chromosomal abnormalities
Marshfield Clinic 20,000;

99% EA		 Internally developed EMR (CattailsMD) since 1960 4,987
(58.4% female)		 Illumina
660W-Quad or Affymetrix 6.0		 Cataracts, Diabetic
Retinopathy, other eye
diseases, and drug
response
Mayo Clinic 19,000;
93.5% EA		 GE Centricity and Cerner 6,940
(38% female) 		Illumina
660W-Quad,
HumanHap 550, 550/610		 Peripheral Arterial
Disease (PAD), Red
Blood Cell Indices,
coronary heart disease (CHD),
adverse drug
response
Mt. Sinai School of Medicine 21,000;
24.1% EA,
30.6% AA,
43.8% HL,
1.5% Asian or NA		 Epic EMR since 2000 16,000
(52.4% female)		 Affymetrix 6.0
or
OmniExpress		 Chronic Kidney Disease
(CKD), Coronary
Arterial Disease (CAD),
hepatitis C/liver disease
Northwestern University 10,500;
67.7% EA,
19.7% AA,
4.8% Asian,
2.8% NA,
8.5% other 		Epic outpatient and Cerner inpatient EMRs 4,962
(83% female) 		Illumina 1M-Duo,
660W-Quad,
or OmniExpress		 Type 2 Diabetes, Height
and Lipids Profile
Vanderbilt University >140,000;
56% EA,
34% AA,
10% other 		Internally developed EMR (StarChart) since 2000 33,228
(58.9% female) 		Illumina
660W-Quad,
1M-Duo, or ADME		 QRS Duration,
Hypothyroidism,
Resistant Hypertension,
Twenty-five Diseases
for Phenome-wide
Association

Key:

EA: European Americans
AA: African Americans
HL: Hispanic/Latino
NA: Native American

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eMERGE Products Dissemination

Number of eMERGE Publications by Year (though June 2012)

Number of eMERGE publications by year

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Funding Announcements

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

    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

Ian Marpuri, NHGRI

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Last Updated: July 19, 2012