Jodell E Linder, Ran Tao, Wendy K Chung, Krzysztof Kiryluk, Cong Liu, Chunhua Weng, John J Connolly, Hakon Hakonarson, Margaret Harr, Kathleen A Leppig, Gail P Jarvik, David L Veenstra, Sharon Aufox, Rex L Chisholm, Adam S Gordon, Christin Hoell, Laura J Rasmussen-Torvik, Maureen E Smith, Ingrid A Holm, Erin M Miller, Cynthia A Prows, Omar Elskeally, Iftikhar J Kullo, Christopher Lee, Sheethal Jose, Teri A Manolio, Robb Rowley, Nana Addo Padi-Adjirackor, Ni Ketut Wilmayani, Brittany City, Wei-Qi Wei, Georgia L Wiesner, Alanna Kulchak Rahm, Janet L Williams, Marc S Williams, Josh F Peterson
As large-scale genomic screening becomes increasingly prevalent, understanding the influence of actionable results on healthcare utilization is key to estimating the potential long-term clinical impact. The eMERGE network sequenced individuals for actionable genes in multiple genetic conditions and returned results to individuals, providers, and the electronic health record. Differences in recommended health services (laboratory, imaging, and procedural testing) delivered within 12 months of return were compared among individuals with pathogenic or likely pathogenic (P/LP) findings to matched individuals with negative findings before and after return of results...
November 2, 2023: American Journal of Human Genetics