Journal of Personalized Medicine (Jan 2018)
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience
- Robyn Fossey,
- David Kochan,
- Erin Winkler,
- Joel E. Pacyna,
- Janet Olson,
- Stephen Thibodeau,
- John J. Connolly,
- Margaret Harr,
- Meckenzie A. Behr,
- Cynthia A. Prows,
- Beth Cobb,
- Melanie F. Myers,
- Nancy D. Leslie,
- Bahram Namjou-Khales,
- Hila Milo Rasouly,
- Julia Wynn,
- Alexander Fedotov,
- Wendy K. Chung,
- Ali Gharavi,
- Janet L. Williams,
- Lynn Pais,
- Ingrid Holm,
- Sharon Aufox,
- Maureen E. Smith,
- Aaron Scrol,
- Kathleen Leppig,
- Gail P. Jarvik,
- Georgia L. Wiesner,
- Rongling Li,
- Mary Stroud,
- Jordan W. Smoller,
- Richard R. Sharp,
- Iftikhar J. Kullo
Affiliations
- Robyn Fossey
- Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
- David Kochan
- Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
- Erin Winkler
- Center for Individualized Medicine and Department of Medical Genomics, Mayo Clinic, Rochester, MN 55905, USA
- Joel E. Pacyna
- Department of Health Sciences Research, Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN 55905, USA
- Janet Olson
- Department of Health Sciences Research, Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN 55905, USA
- Stephen Thibodeau
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
- John J. Connolly
- The Children’s Hospital of Philadelphia, Center for Applied Genomics, Philadelphia, PA 19104, USA
- Margaret Harr
- The Children’s Hospital of Philadelphia, Center for Applied Genomics, Philadelphia, PA 19104, USA
- Meckenzie A. Behr
- The Children’s Hospital of Philadelphia, Center for Applied Genomics, Philadelphia, PA 19104, USA
- Cynthia A. Prows
- Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
- Beth Cobb
- Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
- Melanie F. Myers
- Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
- Nancy D. Leslie
- Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
- Bahram Namjou-Khales
- Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
- Hila Milo Rasouly
- Department of Medicine, Division of Nephrology, Columbia University Medical Center, New York, NY 10027, USA
- Julia Wynn
- Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA
- Alexander Fedotov
- Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York, NY 10032, USA
- Wendy K. Chung
- Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032, USA
- Ali Gharavi
- Department of Medicine, Division of Nephrology, Columbia University Medical Center, New York, NY 10027, USA
- Janet L. Williams
- Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
- Lynn Pais
- Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, USA
- Ingrid Holm
- Boston Children’s Hospital, Boston, MA 02115, USA
- Sharon Aufox
- Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA
- Maureen E. Smith
- Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA
- Aaron Scrol
- Kaiser Permanente, Seattle, WA 98101, USA
- Kathleen Leppig
- Kaiser Permanente, Seattle, WA 98101, USA
- Gail P. Jarvik
- Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
- Georgia L. Wiesner
- Department of Medicine, Division of Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37212, USA
- Rongling Li
- National Human Genome Research Institute, Rockville, MD 20892, USA
- Mary Stroud
- Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37203, USA
- Jordan W. Smoller
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
- Richard R. Sharp
- Department of Health Sciences Research, Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN 55905, USA
- Iftikhar J. Kullo
- Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
- DOI
- https://doi.org/10.3390/jpm8010002
- Journal volume & issue
-
Vol. 8,
no. 1
p. 2
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.
Keywords
- Institutional Review Board
- return of results
- electronic health Record
- informed consent
- genome sequencing
