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. 2022 May;24(5):1130-1138.
doi: 10.1016/j.gim.2022.01.015. Epub 2022 Feb 23.

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

Kathleen A Leppig  1 , Alanna Kulchak Rahm  2 , Paul Appelbaum  3 , Sharon Aufox  4 , Harris T Bland  5 , Adam Buchanan  2 , Kurt D Christensen  6 , Wendy K Chung  3 , Ellen Wright Clayton  5 , David Crosslin  7 , Josh Denny  8 , Shannon DeVange  9 , Adam Gordon  4 , Robert C Green  5 , Hakon Hakonarson  10 , Margaret H Harr  10 , Nora Henrikson  11 , Christin Hoell  4 , Ingrid A Holm  12 , Iftikhar J Kullo  13 , Gail P Jarvik  7 , Philip E Lammers  14 , Eric B Larson  11 , Noralane M Lindor  13 , Maddalena Marasa  3 , Melanie F Myers  15 , Emma Perez  6 , Josh F Peterson  5 , Siddharth Pratap  16 , Cynthia A Prows  15 , James D Ralston  11 , Hila Milo Rasouly  3 , Dan M Roden  5 , Richard R Sharp  13 , Rajbir Singh  16 , Gabriel Shaibi  17 , Maureen E Smith  4 , Amy Sturm  2 , Heidi A Thiese  9 , Sara L Van Driest  4 , Janet Williams  2 , Marc S Williams  2 , Julia Wynn  3 , Carrie L Blout Zawatsky  6 , Georgia L Wiesner  5
Affiliations

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

Kathleen A Leppig et al. Genet Med. 2022 May.

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.

Keywords: Consent; Genetic counseling; Genomic medicine; Return of results; eMERGE.

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Conflict of interest statement

Conflicts of Interest R.C.G. receives compensation for advising AIA, Applied Therapeutics, Humanity, and Verily and is a cofounder of Genome Medical, Inc, a technology and services company providing genetics expertise to patients, providers, employers, and care systems. All other authors declare no conflicts of interest.

Figures

Figure 1
Figure 1. Outcome of disclosure of P/LP variants to eMERGE3 participants.
Diagram illustrating the number of enrolled participants in eMERGE3, participants with return of results, and the breakdown of numbers and reasons why participants did not have return of results. eMERGE3, Electronic Medical Records and Genomics Phase III; LP, likely pathogenic; P, pathogenic.
Figure 2
Figure 2. Genetic counselling and the return process for P/LP results.
Diagram illustrating RoR and genetic counselling for participants, broken down between 3 sites that did not have genetic counselling embedded in RoR (group A: Geisinger, Northwestern University, Vanderbilt University Medical Center) vs the 7 sites that had genetic counselling embedded in their RoR process (group B: Cincinnati Children’s Hospital and Medical Center, Children’s Hospital of Philadelphia, Columbia, Kaiser Permanente of Washington/University of Washington, Mayo, Meharry, Partners HealthCare). eMERGE3, Electronic Medical Records and Genomics Phase III; LP, likely pathogenic; P, pathogenic; RoR, return of results.
See this image and copyright information in PMC

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