The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network

Kathleen A. Leppig, Alanna Kulchak Rahm, Paul Appelbaum, Sharon Aufox, Sarah T. Bland, Adam Buchanan, Kurt D. Christensen, Wendy K. Chung, Ellen Wright Clayton, David Crosslin, Josh Denny, Shannon DeVange, Adam Gordon, Robert C. Green, Hakon Hakonarson, Margaret H. Harr, Nora Henrikson, Christin Hoell, Ingrid A. Holm, Iftikhar J. KulloGail P. Jarvik, Philip E. Lammers, Eric B. Larson, Noralane M. Lindor, Maddalena Marasa, Melanie F. Myers, Emma Perez, Josh F. Peterson, Siddharth Pratap, Cynthia A. Prows, James D. Ralston, Hila Milo Rasouly, Dan M. Roden, Richard R. Sharp, Rajbir Singh, Gabriel Shaibi, Maureen E. Smith, Amy Sturm, Heidi A. Thiese, Sara L. Van Driest, Janet Williams, Marc S. Williams, Julia Wynn, Carrie L. Blout Zawatsky, Georgia L. Wiesner

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: The goal of Electronic Medical Records and Genomics (eMERGE) Phase III Network was to return actionable sequence variants to 25,084 consenting participants from 10 different health care institutions across the United States. The purpose of this study was to evaluate system-based issues relating to the return of results (RoR) disclosure process for clinical grade research genomic tests to eMERGE3 participants. Methods: RoR processes were developed and approved by each eMERGE institution's internal review board. Investigators at each eMERGE3 site were surveyed for RoR processes related to the participant's disclosure of pathogenic or likely pathogenic variants and engagement with genetic counseling. Standard statistical analysis was performed. Results: Of the 25,084 eMERGE participants, 1444 had a pathogenic or likely pathogenic variant identified on the eMERGEseq panel of 67 genes and 14 single nucleotide variants. Of these, 1077 (74.6%) participants had results disclosed, with 562 (38.9%) participants provided with variant-specific genetic counseling. Site-specific processes that either offered or required genetic counseling in their RoR process had an effect on whether a participant ultimately engaged with genetic counseling (P =.0052). Conclusion: The real-life experience of the multiarm eMERGE3 RoR study for returning actionable genomic results to consented research participants showed the impact of consent, method of disclosure, and genetic counseling on RoR.

Original languageEnglish (US)
Pages (from-to)1130-1138
Number of pages9
JournalGenetics in Medicine
Volume24
Issue number5
DOIs
StatePublished - May 2022

Keywords

  • Consent
  • Genetic counseling
  • Genomic medicine
  • Return of results
  • eMERGE

ASJC Scopus subject areas

  • Genetics(clinical)

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