A Closer Look at the Recommended Criteria for Disclosing Genetic Results: Perspectives of Medical Genetic Specialists, Genomic Researchers, and Institutional Review Board Chairs
Next generation sequencing offers benefit of improved health through knowledge, but comes with challenges, such as inevitable incidental findings (IFs). The applicability of recommended criteria for disclosure of individual results when applied to disclosure of IFs is not well known. The purpose of this study was to examine how medical genetic specialists, genomic researchers, and Institutional Review Board (IRB) chairs perceive the importance of recommended criteria when applied to genetic/genomic IFs. We conducted telephone interviews with medical genetic specialists (genetic counselors, genetic nurses, medical geneticists, laboratory professionals), genomic researchers, and IRB chairs (N = 103). Respondents rated and discussed the importance of nine recommended criteria regarding disclosure of genetic/genomic IFs. Stakeholders agreed the most important criteria for disclosure were: (1) the IF points to a life-threatening condition; (2) there is a treatment; (3) individuals indicate in writing they wanted to be informed of IFs. Criteria rated less important were: analytic validity, high penetrance, association with a young age of onset and relative risk more than 2.0. Respondents indicated that some technical criteria were confusing, and in need of context. Our findings suggest that development of guidelines regarding management of IF include multiple stakeholders’ perspectives and be based on a common language.
KeywordsIncidental findings Institutional review board Human genome Genetic research Biomedical ethics Genetic testing
- Bookman, E. B., Langehorne, A. A., Eckfeldt, J. H., Glass, K. C., Jarvik, G. P., Klag, M., et al. (2006). Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. American Journal of Medical Genetics. Part A, 140(10), 1033–1040. doi:10.1002/ajmg.a.31195.PubMedCrossRefGoogle Scholar
- Center for Disease Control and Prevention (CDC). (2010). Genomic testing. http://www.cdc.gov/genomics/gtesting/ACCE/index.htm. Accessed 22 August 2012.
- Christenhusz, G. M., Devriendt, K., & Dierickx, K. (2012). To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. European Journal of Human Genetics, doi:10.1038/ejhg.2012.130. Retrieved from http://www.nature.com/ejhg/journal/vaop/ncurrent/pdf/ejhg2012130a.pdf.PubMedGoogle Scholar
- Downing, N. R., Williams, J. K., Daack-Hirsch, S., Driessnack, M., & Simon, C. (2012). Managing genomic incidental findings in the clinical setting. Patient Education and Counseling. 2012 Oct. doi: 10.1016/j.pec.2012.09.010 [Epub ahead of print].
- Edwards, K. L., Lemke, A. A., Trinidad, S. B., Lewis, S. M., Starks, H., Snapinn, K. W., et al. (2012). Genetics researchers’ and IRB professionals’ attitudes toward genetic research review: a comparative analysis. Genetics in Medicine, 14(2), 236–242. doi:10.1038/gim.2011.57.PubMedCrossRefGoogle Scholar
- Fabsitz, R. R., McGuire, A., Sharp, R. R., Puggal, M., Beskow, L. M., Biesecker, L. G., et al. (2010). Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circulation Cardiovascular Genetics, 3(6), 574–580. doi:10.1161/CIRCGENETICS.110.958827.PubMedCrossRefGoogle Scholar
- Lemke, A. A., Trinidad, S. B., Edwards, K. L., Starks, H., Wiesner, G. L., & GRRIP Consortium. (2010). Attitudes toward genetic research review: results from a national survey of professionals involved in human subjects protection. Journal of Empirical Research on Human Research Ethics, 5(1), 83–91. doi:10.1525/jer.2010.5.1.83.PubMedCrossRefGoogle Scholar
- National Bioethics Advisory Comission (NBAC). (1999). Research involving human biological materials: Ethical issues and policy guidance, vol. 1. http://hdl.handle.net/1805/22. Accessed 30 May 2012.
- Resta, R., Biesecker, B. B., Bennett, R. L., Blum, S., Hahn, S. E., Strecker, M. N., et al. (2006). A new definition of genetic counseling: National Society of Genetic Counselors’ Task Force Report. Journal of Genetic Counseling, 15(2), 77–83. doi:10.1007/s10897-005-9014-3.PubMedCrossRefGoogle Scholar
- Simon, C. M., Williams, J. K., Shinkunas, L., Brandt, D., Daack-Hirsch, S., & Driessnack, M. (2011). Informed consent and genomic incidental findings: IRB chair perspectives. Journal of Empirical Research on Human Research Ethics, 6(4), 53–67. doi:10.1525/jer.2011.6.4.53.PubMedCrossRefGoogle Scholar
- Townsend, A., Adam, S., Birch, P. H., Lohn, Z., Rousseau, F., & Friedman, J. M. (2012). “I want to know what’s in Pandora’s box”: comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. American Journal of Medical Genetics. Part A, 158A(10), 2519–2525. doi:10.1002/ajmg.a.35554.PubMedCrossRefGoogle Scholar
- Williams, J. K., Daack-Hirsch, S., Driessnack, M., Downing, N., Shinkunas, L., Brandt, D., et al. (2012). Researcher and institutional review board chair perspectives on incidental findings in genomic research. Genetic Testing and Molecular Biomarkers, 16(6), 508–513. doi:10.1089/gtmb.2011.0248.PubMedCrossRefGoogle Scholar
- Wolf, S. M., Lawrenz, F. P., Nelson, C. A., Kahn, J. P., Cho, M. K., Clayton, E. W., et al. (2008). Managing incidental findings in human subjects research: analysis and recommendations. The Journal of Law, Medicine & Ethics, 36(2), 219–248. doi:10.1111/j.1748-720X.2008.00266.x. 211.CrossRefGoogle Scholar
- Wolf, S. M., Crock, B. N., Van Ness, B., Lawrenz, F., Kahn, J. P., Beskow, L. M., et al. (2012). Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genetics in Medicine, 14(4), 361–384. doi:10.1038/gim.2012.23.PubMedCrossRefGoogle Scholar