@article{832534defbe34efab6e8b08bbb5dddf7,
title = "Participant choices for return of genomic results in the eMERGE Network",
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.",
keywords = "disclosure, genetic research results, genetic testing, preferences, secondary findings",
author = "Christin Hoell and Julia Wynn and Rasmussen, {Luke V.} and Keith Marsolo and Aufox, {Sharon A.} and Chung, {Wendy K.} and Connolly, {John J.} and Freimuth, {Robert R.} and David Kochan and Hakon Hakonarson and Margaret Harr and Holm, {Ingrid A.} and Kullo, {Iftikhar J.} and Lammers, {Philip E.} and Leppig, {Kathleen A.} and Leslie, {Nancy D.} and Myers, {Melanie F.} and Sharp, {Richard R.} and Smith, {Maureen E.} and Prows, {Cynthia A.}",
note = "Funding Information: This phase of the eMERGE Network was initiated and funded by the National Human Genome Research Institute (NHGRI) through the following grants: U01HG008657 (Group Health Cooperative/ University of Washington); U01HG008685 (Brigham and Women{\textquoteright}s Hospital); U01HG008672 (Vanderbilt University Medical Center); U01HG008666 (Cincinnati Children{\textquoteright}s Hospital Medical Center); U01HG006379 (Mayo Clinic); U01HG008679 (Geisinger Clinic); U01HG008680 (Columbia University Irving Medical Center); U01HG008684 (Children{\textquoteright}s Hospital of Philadelphia); U01HG008673 (Northwestern University); U01HG008701 (Vanderbilt University Medical Center serving as the Coordinating Center); U01HG008676 (Partners Healthcare/Broad Institute); U54MD007593-10 (Meharry Medical College); and U01HG008664 (Baylor College of Medicine). Funding Information: This study assessed participant choices within the third phase of the eMERGE network funded by the National Human Genome Research Institute. Ten sites, two sequencing centers, and one coordinating center made up the eMERGE III Network. The eMERGE III sites included Cincinnati Children{\textquoteright}s Hospital Medical Center (CCHMC), Children{\textquoteright}s Hospital of Philadelphia (CHOP), Columbia University (CU), Geisinger (GE), Kaiser Permanente of Washington/University of Washington (KPWA/UW), Mayo Clinic (MC), Meharry Medical College (MMC), Northwestern University (NU), Partners HealthCare (PHC), and Vanderbilt University Medical Center (VUMC). Sites enrolled up to 3000 participants each for a total study population of 25,015.35 Sites independently developed their own recruitment and return of results protocols.36 Publisher Copyright: {\textcopyright} 2020, American College of Medical Genetics and Genomics.",
year = "2020",
month = nov,
day = "1",
doi = "10.1038/s41436-020-0905-3",
language = "English (US)",
volume = "22",
pages = "1821--1829",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "11",
}