The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment

Last updated: August 22, 2025
Sponsor: Vanderbilt University Medical Center
Overall Status: Active - Not Recruiting

Phase

N/A

Condition

N/A

Treatment

Genome Informed Risk Assessment (GIRA) report

Clinical Study ID

NCT05277116
211043
  • Ages 3-75
  • All Genders
  • Accepts Healthy Volunteers

Study Summary

The eMERGE Network embraces the opportunity to use new methods in genomic medicine, information science, and research participant engagement to identify people at very high risk for specific diseases and recommend individualized approaches to prevention and care. The investigators will conduct a prospective study, with diverse and underserved participants, across ten eMERGE study sites to evaluate clinical implementation of a Genome Informed Risk Assessment (GIRA) tool that combines genetic, family history, and clinical risk information from participants.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Adults 18-75

  • Children 3 to < 18

  • Able to read or understand English or Spanish

  • Able to provide a healthcare provider or clinician to receive results

  • Willing to accept GIRA report

Exclusion

Exclusion Criteria:

  • Inability to provide consent

  • Transplant (solid organ or bone marrow) or transfusion within 8 weeks

  • Research staff and investigators in eMERGE

  • Not a patient at parent institution

Study Design

Total Participants: 26877
Treatment Group(s): 1
Primary Treatment: Genome Informed Risk Assessment (GIRA) report
Phase:
Study Start date:
February 16, 2022
Estimated Completion Date:
December 31, 2026

Study Description

The purpose of the study is to determine if providing a Genome Informed Risk Assessment (GIRA) will impact clinical actions taken by providers and patients to manage disease risk and the propensity of participants to develop a disease reported in the GIRA. New tools in Genomic Medicine - polygenic risk scores, monogenic genetic screening tests, platforms to capture family history, and advanced electronic phenotyping - offer the prospect of early identification of people at especially high risk of common diseases. The investigators developed methods to generate integrated genomic risk assessments for ten conditions; a plan to engage, recruit, and retain ~25,000 subjects to receive these assessments; and methods to study outcomes in those designated high risk and those designated non-high risk. By enhancing understanding of new methods to create and deliver integrated genomic risk assessments, this project will enable prevention and early treatment of people at high risk for common diseases.

Connect with a study center

  • University of Alabama Birmingham

    Birmingham, Alabama 35233
    United States

    Site Not Available

  • University of Alabama Birmingham

    Birmingham 4049979, Alabama 4829764 35233
    United States

    Site Not Available

  • Mountain Park Health Center

    Tempe, Arizona 85012
    United States

    Site Not Available

  • Mountain Park Health Center

    Tempe 5317058, Arizona 5551752 85012
    United States

    Site Not Available

  • Northwestern

    Chicago, Illinois 60611
    United States

    Site Not Available

  • Northwestern

    Chicago 4887398, Illinois 4896861 60611
    United States

    Site Not Available

  • Brigham and Women's Hospital

    Boston, Massachusetts 02115
    United States

    Site Not Available

  • Massachusetts General Hospital

    Boston, Massachusetts 02114
    United States

    Site Not Available

  • Brigham and Women's Hospital

    Boston 4930956, Massachusetts 6254926 02115
    United States

    Site Not Available

  • Massachusetts General Hospital

    Boston 4930956, Massachusetts 6254926 02114
    United States

    Site Not Available

  • Mayo Clinic

    Rochester, Minnesota 55905
    United States

    Site Not Available

  • Mayo Clinic

    Rochester 5043473, Minnesota 5037779 55905
    United States

    Site Not Available

  • Columbia University

    New York, New York 10032
    United States

    Site Not Available

  • Mount Sinai

    New York, New York 10029
    United States

    Site Not Available

  • Columbia University

    New York 5128581, New York 5128638 10032
    United States

    Site Not Available

  • Mount Sinai

    New York 5128581, New York 5128638 10029
    United States

    Site Not Available

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, Ohio 45229
    United States

    Site Not Available

  • Cincinnati Children's Hospital Medical Center

    Cincinnati 4508722, Ohio 5165418 45229
    United States

    Site Not Available

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania 19104
    United States

    Site Not Available

  • Children's Hospital of Philadelphia

    Philadelphia 4560349, Pennsylvania 6254927 19104
    United States

    Site Not Available

  • Vanderbilt University Medical Center

    Nashville, Tennessee 37203
    United States

    Site Not Available

  • Vanderbilt University Medical Center

    Nashville 4644585, Tennessee 4662168 37203
    United States

    Site Not Available

  • University of Washington

    Seattle, Washington 98195
    United States

    Site Not Available

  • University of Washington

    Seattle 5809844, Washington 5815135 98195
    United States

    Site Not Available

Map preview placeholder

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.