Health actions after direct-to-consumer genetic testing for medically actionable conditions
Year: 2026
Type: article
Study design: Observational Study
Abstract: Purpose: Millions of individuals have undergone direct-to-consumer genetic testing (DTC-GT), which can include results for medically actionable conditions. We sought to determine whether individuals with DTC-GT results for medically actionable cancer and cardiovascular conditions take health actions, such as sharing results with health care professionals (HCPs) and following subsequent recommendations to reduce health risks. Methods: and had opened their report. Main outcomes included personal and family history of relevant health conditions, prior genetic testing, result sharing with biological relatives and HCPs, HCP recommendations, and adherence to recommendations. Results: (24.0%). Among individuals who shared results with HCPs, 86.0% received at least 1 medical recommendation, and 87.5% of recommendations were followed. Conclusion: Most individuals receiving medically actionable results through DTC-GT had no prior knowledge of their genetic health risks, despite many reporting a relevant personal and/or family history. When individuals shared results with HCPs and received medical recommendations, adherence was high.
Source: Genetics in Medicine Open
Authors: Amy C. Sturm, Stacey Detweiler, Jessica Bielenberg, Sungmin Park, Eloycsia Ukandu, Hannah Llorin, Sarah L. Elson, Matthew H. McIntyre, Adam Auton, Aditya Ambati, Alan Kwong, Alisa P. Lehman, Anjali J. Shastri, Anna Guan, Barry Hicks, Bertram L. Koelsch, Catherine H. Weldon, Chris German, David A. Hinds, Éadaoin Harney, Emily DelloRusso, Ethan M. Jewett, G. David Poznik, James R. Ashenhurst, Jingran Wen, Joyce Y. Tung, Kahsaia de Brito, Katelyn Kukar Bond, Keng-Han Lin, Matthew H. McIntyre, Matthew J. Kmiecik, Noura S. Abul-Husn, Peter R. Wilton, Qiaojuan Jane Su, R. Ryanne Wu, Rebecca M.K. Berns, Robert K. Bell, Ruth I. Tennen, Sayantan Das, Shubham Saini, Stacey B. Detweiler, Stella Aslibekyan, Steven J. Micheletti, Vinh Tran, Wanwan Xu, William A. Freyman, Noura S. Abul-Husn
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W7129083535