TY - JOUR
T1 - Returning integrated genomic risk and clinical recommendations
T2 - The eMERGE study
AU - eMERGE Consortium
AU - Linder, Jodell E.
AU - Allworth, Aimee
AU - Bland, Harris T.
AU - Caraballo, Pedro J.
AU - Chisholm, Rex L.
AU - Clayton, Ellen Wright
AU - Crosslin, David R.
AU - Dikilitas, Ozan
AU - DiVietro, Alanna
AU - Esplin, Edward D.
AU - Forman, Sophie
AU - Freimuth, Robert R.
AU - Gordon, Adam S.
AU - Green, Richard
AU - Harden, Maegan V.
AU - Holm, Ingrid A.
AU - Jarvik, Gail P.
AU - Karlson, Elizabeth W.
AU - Labrecque, Sofia
AU - Lennon, Niall J.
AU - Limdi, Nita A.
AU - Mittendorf, Kathleen F.
AU - Murphy, Shawn N.
AU - Orlando, Lori
AU - Prows, Cynthia A.
AU - Rasmussen, Luke V.
AU - Rasmussen-Torvik, Laura
AU - Rowley, Robb
AU - Sawicki, Konrad Teodor
AU - Schmidlen, Tara
AU - Terek, Shannon
AU - Veenstra, David
AU - Velez Edwards, Digna R.
AU - Absher, Devin
AU - Abul-Husn, Noura S.
AU - Alsip, Jorge
AU - Bangash, Hana
AU - Beasley, Mark
AU - Below, Jennifer E.
AU - Berner, Eta S.
AU - Booth, James
AU - Chung, Wendy K.
AU - Cimino, James J.
AU - Connolly, John
AU - Davis, Patrick
AU - Devine, Beth
AU - Fullerton, Stephanie M.
AU - Guiducci, Candace
AU - Habrat, Melissa L.
AU - Ionita-Laza, Iuliana
N1 - Publisher Copyright:
© 2023 The Authors
PY - 2023/4
Y1 - 2023/4
N2 - Purpose: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk. Methods: To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results. Results: GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022. Conclusion: Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.
AB - Purpose: Assessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk. Methods: To enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results. Results: GIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022. Conclusion: Return of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care.
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U2 - 10.1016/j.gim.2023.100006
DO - 10.1016/j.gim.2023.100006
M3 - Article
C2 - 36621880
AN - SCOPUS:85147859394
SN - 1098-3600
VL - 25
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 4
M1 - 100006
ER -