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

Genetic Disease Clinical Trial

— eMERGE  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05277116
• Other study ID #: 211043
• Status: Recruiting
• Phase: N/A
• Start date: February 16, 2022
• Est. completion date: March 1, 2026

Study information

• Verified date: March 2024
• Source: Vanderbilt University Medical Center
• Contact: Jodell Jackson
• Phone: 615-875-6090
• Email: jodell.jackson[@]vumc.org
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 25000
• Est. completion date: March 1, 2026
• Est. primary completion date: October 1, 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 3 Years to 75 Years

Eligibility

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

Related Conditions & MeSH terms

• Genetic Disease
• Genetic Diseases, Inborn

Intervention

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.

Locations

Country	Name	City	State
United States	University of Alabama Birmingham	Birmingham	Alabama
United States	Brigham and Women's Hospital	Boston	Massachusetts
United States	Massachusetts General Hospital	Boston	Massachusetts
United States	Northwestern	Chicago	Illinois
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio
United States	Vanderbilt University Medical Center	Nashville	Tennessee
United States	Columbia University	New York	New York
United States	Mount Sinai	New York	New York
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Mayo Clinic	Rochester	Minnesota
United States	University of Washington	Seattle	Washington
United States	Mountain Park Health Center	Tempe	Arizona

Sponsors (1)

Lead Sponsor	Collaborator
Vanderbilt University Medical Center

Country where clinical trial is conducted

United States, 

References & Publications (63)

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Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The number of new health care actions after return of the genome-informed risk assessment	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	Number of newly diagnosed conditions after return of the genome-informed risk assessment	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
Secondary	Number of risk-reducing interventions after return of the genome-informed risk assessment	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