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

Fossey R1, Kochan D2, Winkler E3, Pacyna JE4, Olson J5, Thibodeau S6, Connolly JJ7, Harr M8, Behr MA9, Prows CA10, Cobb B11, Myers MF12, Leslie ND13, Namjou-Khales B14, Milo Rasouly H15, Wynn J16, Fedotov A17, Chung WK18, Gharavi A19, Williams JL20, Pais L21, Holm I22, Aufox S23, Smith ME24, Scrol A25, Leppig K26, Jarvik GP27, Wiesner GL28, Li R29, Stroud M30, Smoller JW31, Sharp RR32, Kullo IJ33.

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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.