NCT05277116

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

• Status: Active Not Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 26,877 (actual)
• Sponsor: Vanderbilt University Medical Center · Academic / Other
• Sex: All
• Age: 3 Years – 75 Years
• Healthy volunteers: Accepted

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.

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.

Conditions

• Genetic Disease

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2022-02-16
• Primary completion: 2026-04-30
• Completion: 2026-12-31
• First posted: 2022-03-14
• Last updated: 2025-08-29

Locations

12 sites across 1 country: United States