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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Number of newly diagnosed conditions after return of the genome-informed risk assessment | Number of newly diagnosed conditions included in the eMERGE study will be measured by data from participant electronic health records | 6 months and 12 months post return of results to participant |
| Number of risk-reducing interventions after return of the genome-informed risk assessment |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Josh Peterson, MD, MPH | Vanderbilt University Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Alabama Birmingham | Birmingham | Alabama | 35233 | United States | ||
| Mountain Park Health Center |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
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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.
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Number of risk-reducing interventions will be measured by REDCap survey along with data from participant electronic health records |
| 6 months and 12 months post return of results to participant |
| Tempe |
| Arizona |
| 85012 |
| United States |
| Northwestern | Chicago | Illinois | 60611 | United States |
| Massachusetts General Hospital | Boston | Massachusetts | 02114 | United States |
| Brigham and Women's Hospital | Boston | Massachusetts | 02115 | United States |
| Mayo Clinic | Rochester | Minnesota | 55905 | United States |
| Mount Sinai | New York | New York | 10029 | United States |
| Columbia University | New York | New York | 10032 | United States |
| Cincinnati Children's Hospital Medical Center | Cincinnati | Ohio | 45229 | United States |
| Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104 | United States |
| Vanderbilt University Medical Center | Nashville | Tennessee | 37203 | United States |
| University of Washington | Seattle | Washington | 98195 | United States |
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| 27694958 | Background | 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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| 41875897 | Derived | Limdi N, Beasley TM, Cortopassi J, Davis B, Bangash H, Chen J, Chisholm RL, Chung WK, Cimino JJ, Connolly J, Crosslin DR, Davis KW, DiVietro A, Esplin ED, Freimuth B, Gordon A, Hakonarson H, Hamed M, He M, Hoell C, Holm I, Hripscak G, Irvin MR, Jarvik GP, Karavite D, Karlson EW, Kenny EE, Khan A, Kiryluk K, Knerr S, Korf B, Kottyan L, Kullo I, Larkin K, Lennon N, Linder JE, Manolio T, Martin LJ, McNally EM, Morse J, Murphy S, Namjou B, Odgis JA, Orlando L, Pacheco J, Peterson JF, Pineda-Alvarez DE, Prows C, Puckelwartz M, Purcell J, Rasmussen-Torvik L, Rehm H, Roden DM, Rosenthal EA, Rowley R, Sabatello M, Schaid D, Sharp R, Smith JL, Smoller JW, Soper ER, Sterling R, Suckiel SA, Terek S, Thayer J, Ting YL, Tiwari H, Velez-Edwards D, Wagholikar KB, Walunas T, Wei WQ, Weng C, Wiesner G, Abul-Husn NS, Veenstra DL. The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments. Am J Hum Genet. 2026 Apr 2;113(4):664-677. doi: 10.1016/j.ajhg.2026.02.018. Epub 2026 Mar 23. |
| 37246632 | Derived | 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. |
| 36621880 | Derived | 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. |
| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Not provided
Not provided