Returning integrated genomic risk and clinical recommendations: the eMERGE study

作者：J. Linder, Aimee Allworth, S. Bland, P. Caraballo, R. Chisholm, E. Clayton, D. Crosslin, O. Dikilitas, Alanna DiVietro, E. Esplin, Sophie Forman, R. Freimuth, A. Gordon, Richard Green, M. Harden, I. Holm, G. Jarvik, E. Karlson, Sofia Labrecque, N. Lennon, N. Limdi, Kathleen F. Mittendorf, S. Murphy, L. Orlando, C. Prows, L. Rasmussen, L. Rasmussen-Torvik, R. Rowley, K. Sawicki, T. Schmidlen, Shannon Terek, D. Veenstra, D. V. Velez Edwards, D. Absher, N. Abul-Husn, Jorge A. Alsip, Hana Bangash, M. Beasley, J. Below, E. Berner, J. Booth, W. Chung, J. Cimino, J. Connolly, Patrick B. Davis, B. Devine, Stephanie M. Fullerton, C. Guiducci, Melissa L. Habrat, Heather S. Hain, H. Hakonarson, M. Harr, Eden V. Haverfield, Valentina Hernandez, Christin Hoell, M. Horike‐Pyne, G. Hripcsak, M. Irvin, C. Kachulis, D. Karavite, E. Kenny, Atlas Khan, K. Kiryluk, Bruce Korf, L. Kottyan, I. Kullo, K. Larkin, Cong Liu, E. Malolepsza, T. Manolio, Thomas May, Elizabeth M. McNally, F. Mentch, Alexandra A. Miller, S. Mooney, Priyanka Murali, B. Mutai, Naveen Muthu, B. Namjou, Emma F. Perez, Megan J. Puckelwartz, Tejinder K. Rakhra-Burris, D. Roden, E. Rosenthal, S. Saadatagah, Maya Sabatello, D. Schaid, Baergen I. Schultz, L. Seabolt, G. Shaibi, R. Sharp, B. Shirts, Maureen E. Smith, J. Smoller, R. Sterling, Sabrina A. Suckiel, Jeritt G. Thayer, H. Tiwari, S. Trinidad, Theresa L. Walunas, Wei-Qi Wei, Q. Wells, C. Weng, G. Wiesner, Ken Wiley, J. Peterson · 发表于：Genetics in Medicine · 年份：2023 · DOI：10.1016/j.gim.2023.100006 · 被引用次数：99 · 研究领域：Medicine

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 (PRS), 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.