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

NCT ID: NCT05277116

Last Updated: 2025-08-29

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Clinical Phase: NA
• Total Enrollment: 26877 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-02-16
• Study Completion Date: 2026-12-31

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.

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

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

Participants receiving a Genome Informed Risk Assessment (GIRA)

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

Group Type: EXPERIMENTAL

Genome Informed Risk Assessment (GIRA) report

Intervention Type: 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.

Interventions

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.

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 3 Years
• Maximum Eligible Age: 75 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Vanderbilt University Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Josh Peterson

Professor of Biomedical Informatics and Medicine

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Josh Peterson, MD, MPH

Role: PRINCIPAL_INVESTIGATOR

Vanderbilt University Medical Center

Locations

University of Alabama Birmingham

Birmingham, Alabama, United States

Mountain Park Health Center

Tempe, Arizona, United States

Northwestern

Chicago, Illinois, United States

Massachusetts General Hospital

Boston, Massachusetts, United States

Brigham and Women's Hospital

Boston, Massachusetts, United States

Mayo Clinic

Rochester, Minnesota, United States

Mount Sinai

New York, New York, United States

Columbia University

New York, New York, United States

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Vanderbilt University Medical Center

Nashville, Tennessee, United States

University of Washington

Seattle, Washington, United States

Countries

United States

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PMID: 31259000 (View on PubMed)

Liu Y, Wan Z, Xia W, Kantarcioglu M, Vorobeychik Y, Clayton EW, Kho A, Carrell D, Malin BA. Detecting the Presence of an Individual in Phenotypic Summary Data. AMIA Annu Symp Proc. 2018 Dec 5;2018:760-769. eCollection 2018.

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PMID: 30815118 (View on PubMed)

Xia W, Wan Z, Yin Z, Gaupp J, Liu Y, Clayton EW, Kantarcioglu M, Vorobeychik Y, Malin BA. It's all in the timing: calibrating temporal penalties for biomedical data sharing. J Am Med Inform Assoc. 2018 Jan 1;25(1):25-31. doi: 10.1093/jamia/ocx101.

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PMID: 29036325 (View on PubMed)

Prasser F, Gaupp J, Wan Z, Xia W, Vorobeychik Y, Kantarcioglu M, Kuhn K, Malin B. An Open Source Tool for Game Theoretic Health Data De-Identification. AMIA Annu Symp Proc. 2018 Apr 16;2017:1430-1439. eCollection 2017.

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PMID: 29854212 (View on PubMed)

Heatherly R, Rasmussen LV, Peissig PL, Pacheco JA, Harris P, Denny JC, Malin BA. A multi-institution evaluation of clinical profile anonymization. J Am Med Inform Assoc. 2016 Apr;23(e1):e131-7. doi: 10.1093/jamia/ocv154. Epub 2015 Nov 13.

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PMID: 26567325 (View on PubMed)

El Emam K, Rodgers S, Malin B. Anonymising and sharing individual patient data. BMJ. 2015 Mar 20;350:h1139. doi: 10.1136/bmj.h1139.

Reference Type: BACKGROUND

PMID: 25794882 (View on PubMed)

Xia W, Heatherly R, Ding X, Li J, Malin BA. R-U policy frontiers for health data de-identification. J Am Med Inform Assoc. 2015 Sep;22(5):1029-41. doi: 10.1093/jamia/ocv004. Epub 2015 Apr 24.

Reference Type: BACKGROUND

PMID: 25911674 (View on PubMed)

Wan Z, Vorobeychik Y, Xia W, Clayton EW, Kantarcioglu M, Ganta R, Heatherly R, Malin BA. A game theoretic framework for analyzing re-identification risk. PLoS One. 2015 Mar 25;10(3):e0120592. doi: 10.1371/journal.pone.0120592. eCollection 2015.

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PMID: 25807380 (View on PubMed)

Loh PR, Danecek P, Palamara PF, Fuchsberger C, A Reshef Y, K Finucane H, Schoenherr S, Forer L, McCarthy S, Abecasis GR, Durbin R, L Price A. Reference-based phasing using the Haplotype Reference Consortium panel. Nat Genet. 2016 Nov;48(11):1443-1448. doi: 10.1038/ng.3679. Epub 2016 Oct 3.

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PMID: 27694958 (View on PubMed)

Campion TR Jr, Sholle ET, Davila MA Jr. Generalizable Middleware to Support Use of REDCap Dynamic Data Pull for Integrating Clinical and Research Data. AMIA Jt Summits Transl Sci Proc. 2017 Jul 26;2017:76-81. eCollection 2017.

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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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PMID: 28532511 (View on PubMed)

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.

Reference Type: DERIVED

PMID: 37246632 (View on PubMed)

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.

Reference Type: DERIVED

PMID: 36621880 (View on PubMed)

Other Identifiers

211043

Identifier Type: -

Identifier Source: org_study_id