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Active, Not Recruiting

NCT Number: NCT05277116

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

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Genetic Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn

Age range

3 year–75 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University of Alabama Birmingham, Birmingham, Alabama, United States

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Genome Informed Risk Assessment (GIRA) report

Other

A Genome Informed Risk Assessment (GIRA) report that combines genetic (monogenic risks and polygenic risk scores), family history, and clinical risk information from participants.

Primary outcomes

  1. 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.

Secondary outcomes

  1. 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

  2. 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

Sponsors and collaborators

Lead sponsor

Vanderbilt University Medical Center

Other

Registry information

Acronym: eMERGE

Important dates

Study start
2022
Primary completion
2026
Study completion
2026
First posted
Mar 14, 2022
Registry last updated
Aug 29, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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