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

August 22, 2025 updated by: Josh Peterson, Vanderbilt University Medical Center
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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Detailed 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.

Study Type

Interventional

Enrollment (Actual)

26877

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Alabama
      • Birmingham, Alabama, United States, 35233
        • University of Alabama Birmingham
    • Arizona
      • Tempe, Arizona, United States, 85012
        • Mountain Park Health Center
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Northwestern
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Brigham and Women's Hospital
      • Boston, Massachusetts, United States, 02114
        • Massachusetts General Hospital
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Mayo Clinic
    • New York
      • New York, New York, United States, 10032
        • Columbia University
      • New York, New York, United States, 10029
        • Mount Sinai
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Cincinnati Children's Hospital Medical Center
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia
    • Tennessee
      • Nashville, Tennessee, United States, 37203
        • Vanderbilt University Medical Center
    • Washington
      • Seattle, Washington, United States, 98195
        • University of Washington

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 years to 75 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Description

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 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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Participants receiving a Genome Informed Risk Assessment (GIRA)
All participants and their health care providers will receive a Genome Informed Risk Assessment (GIRA) report.
Other: Genome Informed Risk Assessment (GIRA) report
A Genome Informed Risk Assessment (GIRA) report that combines genetic (monogenic risks and polygenic risk scores), family history, and clinical risk information from participants.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The number of new health care actions after return of the genome-informed risk assessment
Time Frame: Baseline to 6 months post return of results to participant
Number of new health care actions will be measured by electronic health record data and participant-reported outcomes through a REDCap survey. Pre-specified actions will include a condition-specific composite of new encounters, clinical orders, or specialty referrals for clinical evaluation associated with the condition(s), placed by a provider within 6 months of result disclosure.
Baseline to 6 months post return of results to participant

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of newly diagnosed conditions after return of the genome-informed risk assessment
Time Frame: 6 months and 12 months post return of results to participant
Number of newly diagnosed conditions included in the eMERGE study will be measured by data from participant electronic health records
6 months and 12 months post return of results to participant
Number of risk-reducing interventions after return of the genome-informed risk assessment
Time Frame: 6 months and 12 months post return of results to participant
Number of risk-reducing interventions will be measured by REDCap survey along with data from participant electronic health records
6 months and 12 months post return of results to participant

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Vanderbilt University Medical Center

Investigators

  • Principal Investigator: Josh Peterson, MD, MPH, Vanderbilt University Medical Center

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 16, 2022

Primary Completion (Estimated)

April 30, 2026

Study Completion (Estimated)

December 31, 2026

Study Registration Dates

First Submitted

March 3, 2022

First Submitted That Met QC Criteria

March 11, 2022

First Posted (Actual)

March 14, 2022

Study Record Updates

Last Update Posted (Estimated)

August 29, 2025

Last Update Submitted That Met QC Criteria

August 22, 2025

Last Verified

August 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 211043

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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