Christin Hoell1, Julia Wynn2, Luke V Rasmussen1, Keith Marsolo3, Sharon A Aufox1, Wendy K Chung2, John J Connolly4, Robert R Freimuth5, David Kochan6, Hakon Hakonarson4,7, Margaret Harr4, Ingrid A Holm8,9, Iftikhar J Kullo6, Philip E Lammers10, Kathleen A Leppig11, Nancy D Leslie12, Melanie F Myers12, Richard R Sharp13, Maureen E Smith1, Cynthia A Prows14. 1. Northwestern University, Feinberg School of Medicine, Chicago, IL, USA. 2. Columbia University Irving Medical Center, New York, NY, USA. 3. Department of Population Health Sciences, and Duke Clinical Research Institute, Duke University School of Medicine, Durham, NC, USA. 4. Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. 5. Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. 6. Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA. 7. Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. 8. Division of Genetics and Genomics, and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA, USA. 9. Department of Pediatrics, Harvard Medical School, Boston, MA, USA. 10. Meharry Medical College, Nashville, TN, USA. 11. Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA. 12. Division of Human Genetics, Cincinnati Children's Hospital, and University of Cincinnati College of Medicine, Cincinnati, OH, USA. 13. Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN, USA. 14. Divisions of Human Genetics and Patient Services, Cincinnati Children's Hospital, Cincinnati, OH, USA. christin.hoell@northwestern.edu.
Abstract
PURPOSE: Secondary findings are typically offered in an all or none fashion when sequencing is used for clinical purposes. This study aims to describe the process of offering categorical and granular choices for results in a large research consortium. METHODS: Within the third phase of the electronic MEdical Records and GEnomics (eMERGE) Network, several sites implemented studies that allowed participants to choose the type of results they wanted to receive from a multigene sequencing panel. Sites were surveyed to capture the details of the implementation protocols and results of these choices. RESULTS: Across the ten eMERGE sites, 4664 participants including adolescents and adults were offered some type of choice. Categories of choices offered and methods for selecting categories varied. Most participants (94.5%) chose to learn all genetic results, while 5.5% chose subsets of results. Several sites allowed participants to change their choices at various time points, and 0.5% of participants made changes. CONCLUSION: Offering choices that include learning some results is important and should be a dynamic process to allow for changes in scientific knowledge, participant age group, and individual preference.
PURPOSE: Secondary findings are typically offered in an all or none fashion when sequencing is used for clinical purposes. This study aims to describe the process of offering categorical and granular choices for results in a large research consortium. METHODS: Within the third phase of the electronic MEdical Records and GEnomics (eMERGE) Network, several sites implemented studies that allowed participants to choose the type of results they wanted to receive from a multigene sequencing panel. Sites were surveyed to capture the details of the implementation protocols and results of these choices. RESULTS: Across the ten eMERGE sites, 4664 participants including adolescents and adults were offered some type of choice. Categories of choices offered and methods for selecting categories varied. Most participants (94.5%) chose to learn all genetic results, while 5.5% chose subsets of results. Several sites allowed participants to change their choices at various time points, and 0.5% of participants made changes. CONCLUSION: Offering choices that include learning some results is important and should be a dynamic process to allow for changes in scientific knowledge, participant age group, and individual preference.
Entities:
Keywords:
disclosure; genetic research results; genetic testing; preferences; secondary findings
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