Electronic Medical Records and Genomics (eMERGE) Phase III

NCT ID: NCT03394859

Last Updated: 2020-05-28

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 25380 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-09-01
• Study Completion Date: 2020-04-01

Brief Summary

The Electronic Medical Records and Genomics (eMERGE) Network is in its third phase and during this time is enrolling and sequencing 25,000 individuals on a custom sequencing panel of clinically relevant, actionable genes. The genetic results will be returned to participants and outcomes tracked through the electronic health records.

Detailed Description

The Electronic Medical Records and Genomics (eMERGE) Network is a National Human Genome Research Institute (NHGRI)-funded consortium tasked with developing methods and best practices for utilization of the electronic medical record (EMR) as a tool for genomic research. Phase III is focused on returning actionable gene variants to patients and measuring clinical outcomes. Ultimately, eMERGE hopes its efforts will result in improvements in health care, through safer and more effective prescription methodology, augmentation of primary and secondary prevention strategies, and enhanced understanding of the biology of disease.

eMERGE is composed of 10 clinical sites [ Childrens Hospital of Pennsylvania (CHOP); Cincinnati Children's Medical Center (CCHMC); Columbia University; Geisinger; Kaiser Permanente Washington with Washington University and the Fred Hutchinson Cancer Research Center; Harvard University; Mayo Clinic; Meharry Medical College; Northwestern University; Vanderbilt University Medical center (VUMC)], one non clinical site: Marshfield Clinic, two sequencing centers [Baylor college of Medicine; Partners Healthcare with Broad Institute], a Coordinating Center (VUMC), and the NHGRI. More information on the eMERGE Network can be found at www.gwas.org.

Each sites' research study is tailored to their specific interests. An eMERGE specific sequencing panel was designed and ran on participants covering 109 genes and 1551 Single Nucleotide Variants (SNVs), of which 68 genes and 14 SNVs are clinically actionable and are being returned to patients.

Conditions

Cardiac Disease; Cancer; Hypercholesterolemia; Diabetes; Kidney Diseases; Neuromuscular Diseases

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• Age: 1 day old
• Vital status: Alive

Exclusion Criteria

-None

• Minimum Eligible Age: 1 Day
• Maximum Eligible Age: 120 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Vanderbilt University Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Josh Peterson

Associate Professor of Biomedical Informatics

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Teri Manolio, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

National Human Genome Research Institute (NHGRI)

John Harley, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital Medical Center, Cincinnati

Hakon Hakonarson, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital of Philadelphia

Chunhua Weng, PhD

Role: PRINCIPAL_INVESTIGATOR

Columbia University

Marc Williams, MD

Role: PRINCIPAL_INVESTIGATOR

Geisinger Clinic

Elizabeth Karlson, MD

Role: PRINCIPAL_INVESTIGATOR

Harvard University

Scott Hebbring, PhD

Role: PRINCIPAL_INVESTIGATOR

Marshfield Clinic

Iftikhar Kullo, MD

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Samuel Adunyah, PhD

Role: PRINCIPAL_INVESTIGATOR

Meharry Medical College

Rex Chisholm, PhD

Role: PRINCIPAL_INVESTIGATOR

Northwestern University

Gail Jarvik, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Kaiser Permanente Washington with the University of Washington and the Fred Hutchinson Cancer Research Center

Dan Roden, MD

Role: PRINCIPAL_INVESTIGATOR

Vanderbilt University Medical Center

Heidi Rehm, PhD

Role: PRINCIPAL_INVESTIGATOR

Partners Healthcare with Broad Institute

Richard Gibbs, PhD

Role: PRINCIPAL_INVESTIGATOR

Baylor College Medicine

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Other Identifiers

eMERGEIII

Identifier Type: -

Identifier Source: org_study_id