Participant choices for return of genomic results in the eMERGE Network

Christin Hoell, Julia Wynn, Luke V. Rasmussen, Keith Marsolo, Sharon A. Aufox, Wendy K. Chung, John J. Connolly, Robert Freimuth, David Kochan, Hakon Hakonarson, Margaret Harr, Ingrid A. Holm, Iftikhar Jan Kullo, Philip E. Lammers, Kathleen A. Leppig, Nancy D. Leslie, Melanie F. Myers, Richard R. Sharp, Maureen E. Smith, Cynthia A. Prows

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalGenetics in Medicine
DOIs
StateAccepted/In press - 2020

Keywords

  • disclosure
  • genetic research results
  • genetic testing
  • preferences
  • secondary findings

ASJC Scopus subject areas

  • Genetics(clinical)

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    Hoell, C., Wynn, J., Rasmussen, L. V., Marsolo, K., Aufox, S. A., Chung, W. K., Connolly, J. J., Freimuth, R., Kochan, D., Hakonarson, H., Harr, M., Holm, I. A., Kullo, I. J., Lammers, P. E., Leppig, K. A., Leslie, N. D., Myers, M. F., Sharp, R. R., Smith, M. E., & Prows, C. A. (Accepted/In press). Participant choices for return of genomic results in the eMERGE Network. Genetics in Medicine. https://doi.org/10.1038/s41436-020-0905-3