Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.

Robyn Fossey,Mary Stroud,Nancy Leslie,Margaret Harr,Meckenzie Behr,Alexander Fedotov,Hila Milo Rasouly,Aaron Scrol,Julia Wynn,Lynn Pais,Sharon Aufox,Erin Winkler,Rongling Li,Georgia L Wiesner ,Melanie F Myers ,Wendy K Chung ,Beth L Cobb ,Janet L Williams ,Cynthia A Prows ,Maureen E Smith ,Kathleen A Leppig ,Ingrid A Holm ,Ali G Gharavi ,David C Kochan ,Richard R Sharp ,Joel E Pacyna ,Stephen N Thibodeau ,Bahram Namjou‐Khales ,Janet E Olson ,Gail P Jarvik ,John J Connolly ,Jordan W Smoller ,Iftikhar J Kullo

doi:10.3390/jpm8010002

Abstract

We examined the Institutional Review Board (IRB) process at 9 academic institutions in the electronic Medical Records and Genomics (eMERGE) Network, for proposed electronic health record-based genomic medicine studies, to identify common questions and concerns. Sequencing of 109 disease related genes and genotyping of 14 actionable variants is being performed in ~28,100 participants from the 9 sites. Pathogenic/likely pathogenic variants in actionable genes are being returned to study participants. We examined each site’s research protocols, informed-consent materials, and interactions with IRB staff. Research staff at each site completed questionnaires regarding their IRB interactions. The time to prepare protocols for IRB submission, number of revisions and time to approval ranged from 10–261 days, 0–11, and 11–90 days, respectively. IRB recommendations related to the readability of informed consent materials, specifying the full range of potential risks, providing options for receiving limited results or withdrawal, sharing of information with family members, and establishing the mechanisms to answer participant questions. IRBs reviewing studies that involve the return of results from genomic sequencing have a diverse array of concerns, and anticipating these concerns can help investigators to more effectively engage IRBs.

Highlights

Studies that propose the disclosure of individual genetic results from research studies, as well as integration of these results into the electronic health record (EHR), are relatively novel protocols for Institutional Review Boards (IRBs) to review
The time it took for sites to prepare for the initial IRB submission varied, based in part on the scope and scale of the corresponding projects and study personnel time assigned to protocol development
The shortest approval period occurred at Partners; it was preceded by a multi-year process of discussions and meetings that included IRB leadership to develop, review, and iterate the return of results protocols and documents prior to submission

Summary

Introduction

Studies that propose the disclosure of individual genetic results from research studies, as well as integration of these results into the electronic health record (EHR), are relatively novel protocols for Institutional Review Boards (IRBs) to review. Such studies employ designs that are necessary to begin translating genomics into clinical practice, but may introduce new kinds (or new scales) of risk [1,2,3]. The electronic MEdical Records and GEnomics (eMERGE) Network is a National Human. The network, initiated in 2007, and in its third phase, currently consists of 9 sites, two central sequencing facilities, and a coordinating center

Objectives

Methods

Results

Discussion

Conclusion