Citations 2
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience
Fossey, Robyn, Kochan, David C., Winkler, Erin, Pacyna, Joel E. , Thibodeau, Stephen N. , Connolly, John J. , Harr, Margaret , Behr, Meckenzie, Prows, Cynthia A. , Cobb, Beth L., Myers, Melanie F. , Leslie, Nancy, Namjou‐Khales, Bahram, Rasouly, Hila Milo , Wynn, Julia , Fedotov, Alexander , Gharavi, Ali G. , Williams, Janet L. , Pais, Lynn , Holm, Ingrid A. , Aufox, Sharon , Smith, Maureen E. , Scrol, Aaron, Leppig, Kathleen A. , Jarvik, Gail P. , Wiesner, Georgia L. , Li, Rongling, Stroud, Mary , Sharp, Richard R. , Kochan, David, Thibodeau, Stephen, Myers, Melanie F , Holm, Ingrid A , Sharp, Richard R , Milo Rasouly, Hila , Jarvik, Gail P , Connolly, John J , Olson, Janet E. , Chung, Wendy K. , Smoller, Jordan W. , Kullo, Iftikhar J.
Journal of Personalized Medicine | January 3, 2018 | Volume: 8 | Issue: 1 | Pages: 2
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.
Biobanks and personalized medicine
Bielinski, Suzette J. , Ryu, Euijung , Winkler, Erin, Takahashi, Paul Y. , Pathak, Jyotishman , Cerhan, James R. , Olson, Janet E. , Cerhan, James R , Bielinski, Suzette , Takahashi, Paul
Clinical Genetics | March 3, 2014 | Volume: 86 | Issue: 1 | Pages: 50-55
AbstractWe provide a mini‐review of how biobanks can support clinical genetics in the era of personalized medicine. We discuss types of biobanks, including disease specific and general biobanks not focused on one disease. We present considerations in setting up a biobank, including consenting and governance, biospecimens, risk factor and related data, informatics, and linkage to electronic health records for phenotyping. We also discuss the uses of biobanks and ongoing considerations, including genotype‐driven recruitment, investigations of gene–environment associations, and the re‐use of data generated from studies. Finally, we present a brief discussion of some of the unresolved issues, such as return of research results and sustaining biobanks over time. In summary, carefully designed biobanks can provide critical research and infrastructure support for clinical genetics in the era of personalized medicine.