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

Vanderbilt University Medical Center

Status: Active, not recruiting

Conditions: Genetic Disease

Treatments: Other: Genome Informed Risk Assessment (GIRA) report

Study type: Interventional

Funder types: Other

Identifiers

NCT05277116

211043

Details and patient eligibility

About

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.

Full 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.

Enrollment: 26,877 patients

Sex: All

Ages: 3 to 75 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Other

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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26,877 participants in 1 patient group

Participants receiving a Genome Informed Risk Assessment (GIRA)

Experimental group

Description:

All participants and their health care providers will receive a Genome Informed Risk Assessment (GIRA) report.

Treatment:

Other: Genome Informed Risk Assessment (GIRA) report