@article{7509767af8ac41cab8185bc6f827b1e3,
title = "Returning integrated genomic risk and clinical recommendations: The eMERGE study",
abstract = "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.",
keywords = "Common variants, Family history, Genotyping, Monogenic risks, Polygenic risk scores",
author = "{eMERGE Consortium} and Linder, {Jodell E.} and Aimee Allworth and Bland, {Sarah T.} and Caraballo, {Pedro J.} and Chisholm, {Rex L.} and Clayton, {Ellen Wright} and Crosslin, {David R.} and Ozan Dikilitas and Alanna DiVietro and Esplin, {Edward D.} and Sophie Forman and Freimuth, {Robert R.} and Gordon, {Adam S.} and Richard Green and Harden, {Maegan V.} and Holm, {Ingrid A.} and Jarvik, {Gail P.} and Karlson, {Elizabeth W.} and Sofia Labrecque and Lennon, {Niall J.} and Limdi, {Nita A.} and Mittendorf, {Kathleen F.} and Murphy, {Shawn N.} and Lori Orlando and Prows, {Cynthia A.} and Rasmussen, {Luke V.} and Laura Rasmussen-Torvik and Robb Rowley and Sawicki, {Konrad Teodor} and Tara Schmidlen and Shannon Terek and David Veenstra and {Velez Edwards}, {Digna R.} and Devin Absher and Abul-Husn, {Noura S.} and Jorge Alsip and Hana Bangash and Mark Beasley and Below, {Jennifer E.} and Berner, {Eta S.} and James Booth and Chung, {Wendy K.} and Cimino, {James J.} and John Connolly and Patrick Davis and Beth Devine and Fullerton, {Stephanie M.} and Candace Guiducci and Habrat, {Melissa L.} and Shaibi, {Gabriel Q.}",
note = "Funding Information: The eMERGE Genomic Risk Assessment Network is funded by the National Human Genome Research Institute ( NHGRI ) through the following grants: U01HG011172 ( Cincinnati Children's Hospital Medical Center ), U01HG011175 ( Children's Hospital of Philadelphia ), U01HG008680 ( Columbia University ), U01HG011176 ( Icahn School of Medicine at Mount Sinai ), U01HG008685 ( Mass General Brigham ), U01HG006379 ( Mayo Clinic ), U01HG011169 ( Northwestern University ), U01HG011167 ( University of Alabama at Birmingham ), U01HG008657 ( University of Washington ), U01HG011181 ( Vanderbilt University Medical Center ), and U01HG011166 ( Vanderbilt University Medical Center serving as the Coordinating Center ). Publisher Copyright: {\textcopyright} 2023 The Authors",
year = "2023",
month = apr,
doi = "10.1016/j.gim.2023.100006",
language = "English (US)",
volume = "25",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "4",
}