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. 2020 Nov;22(11):1821-1829.
doi: 10.1038/s41436-020-0905-3. Epub 2020 Jul 16.

Participant choices for return of genomic results in the eMERGE Network

Christin Hoell  1 , Julia Wynn  2 , Luke V Rasmussen  1 , Keith Marsolo  3 , Sharon A Aufox  1 , Wendy K Chung  2 , John J Connolly  4 , Robert R Freimuth  5 , David Kochan  6 , Hakon Hakonarson  4   7 , Margaret Harr  4 , Ingrid A Holm  8   9 , Iftikhar J Kullo  6 , Philip E Lammers  10 , Kathleen A Leppig  11 , Nancy D Leslie  12 , Melanie F Myers  12 , Richard R Sharp  13 , Maureen E Smith  1 , Cynthia A Prows  14
Affiliations

Participant choices for return of genomic results in the eMERGE Network

Christin Hoell et al. Genet Med. 2020 Nov.

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.

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Conflict of interest statement

DISCLOSURE

W.K.C. serves on the Scientific Advisory Board of Regeneron Genetics Center. K.M. is a consultant for Novartis, as well as a coinventor and consultant for Hive Networks, Inc. The other authors declare no conflicts of interest.

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