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

NCT05277116 | Active Not Recruiting

• 1 other identifier: 211043
• Study Type: interventional
• Target: 26,877
• Locations: 1 country
• Sites: 12

Brief 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.

Conditions

Genetic Disease

Keywords

Genomic Risk; Genomic Medicine; GIRA; Genome Informed Risk Assessment; Risk Report

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Number of newly diagnosed conditions after return of the genome-informed risk assessment

  6 months and 12 months post return of results to participant

• Number of risk-reducing interventions after return of the genome-informed risk assessment

  6 months and 12 months post return of results to participant

Study Arms (1)

Participants receiving a Genome Informed Risk Assessment (GIRA)

EXPERIMENTAL

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

Other: Genome Informed Risk Assessment (GIRA) report

Interventions

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.

Participants receiving a Genome Informed Risk Assessment (GIRA)

Eligibility Criteria

• Age: 3 Years - 75 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Vanderbilt University Medical Center: lead

Study Sites (12)

University of Alabama Birmingham

Birmingham, Alabama, 35233, United States

Location

Mountain Park Health Center

Tempe, Arizona, 85012, United States

Location

Northwestern

Chicago, Illinois, 60611, United States

Location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Brigham and Women's Hospital

Boston, Massachusetts, 02115, United States

Location

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Mount Sinai

New York, New York, 10029, United States

Location

Columbia University

New York, New York, 10032, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37203, United States

Location

University of Washington

Seattle, Washington, 98195, United States

Location

Related Publications (65)

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• Sperber NR, Carpenter JS, Cavallari LH, J Damschroder L, Cooper-DeHoff RM, Denny JC, Ginsburg GS, Guan Y, Horowitz CR, Levy KD, Levy MA, Madden EB, Matheny ME, Pollin TI, Pratt VM, Rosenman M, Voils CI, W Weitzel K, Wilke RA, Ryanne Wu R, Orlando LA. Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network. BMC Med Genomics. 2017 May 22;10(1):35. doi: 10.1186/s12920-017-0273-2.

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• Connolly JJ, Berner ES, Smith M, Levy S, Terek S, Harr M, Karavite D, Suckiel S, Holm IA, Dufendach K, Nelson C, Khan A, Chisholm RL, Allworth A, Wei WQ, Bland HT, Clayton EW, Soper ER, Linder JE, Limdi NA, Miller A, Nigbur S, Bangash H, Hamed M, Sherafati A, Lewis ACF, Perez E, Orlando LA, Rakhra-Burris TK, Al-Dulaimi M, Cifric S, Scherr CL, Wynn J, Hakonarson H, Sabatello M. Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores. Genet Med. 2023 Sep;25(9):100906. doi: 10.1016/j.gim.2023.100906. Epub 2023 May 26.

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• Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K; eMERGE Consortium; Peterson JF. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 Apr;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6.

  PMID: 36621880 DERIVED

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Josh Peterson, MD, MPH

  Vanderbilt University Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Biomedical Informatics and Medicine

Model Details: All participants will receive a genome informed risk assessment (GIRA) report. Participants designated as high risk based on their genomic risks will be compared to those without such risks for each condition.

Study Record Dates

• First Submitted: March 3, 2022
• First Posted: March 14, 2022
• Study Start: February 16, 2022
• Primary Completion: April 30, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: August 29, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (12)