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.
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Berg, J. S., Khoury, M. J., & Evans, J. P. (2011). Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genetics in Medicine, 13(6), 499–504. doi:10.1097/GIM.0b013e318220aaba.
Beskow, L. M., & Burke, W. (2010). Offering individual genetic research results: context matters. Science Translational Medicine, 2(38), 38cm20. doi:10.1126/scitranslmed.3000952.
Beskow, L. M., & Smolek, S. J. (2009). Prospective biorepository participants’ perspectives on access to research results. Journal of Empirical Research on Human Research Ethics, 4(3), 99–111. doi:10.1525/jer.2009.4.3.99.
Beskow, L. M., Burke, W., Merz, J. F., Barr, P. A., Terry, S., Penchaszadeh, V. B., et al. (2001). Informed consent for population-based research involving genetics. JAMA: The Journal of the American Medical Association, 286(18), 2315–2321.
Biesecker, L. G., Burke, W., Kohane, I., Plon, S. E., & Zimmern, R. (2012). Next-generation sequencing in the clinic: are we ready? Nature, 15, 818–824. doi:10.1038/nrg3357.
Bollinger, J. M., Scott, J., Dvoskin, R., & Kaufman, D. (2012). Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study. Genetics in Medicine, 14(4), 451–457. doi:10.1038/gim.2011.66.
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.
Bovenberg, J., Meulenkamp, T., Smets, E., & Gevers, S. (2009). Biobank research: reporting results to individual participants. European Journal of Health Law, 16(3), 229–247.
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.
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].
Dressler, L. G., Smolek, S., Ponsaran, R., Markey, J. M., Starks, H., Gerson, N., et al. (2012). IRB perspectives on the return of individual results from genomic research. Genetics in Medicine, 14(2), 215–222. doi:10.1038/gim.2011.10.
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.
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.
Green, R. C., Berg, J. W., Berry, G. T., Biesecker, L. G., Dimmock, D. P., Evans, J. P., et al. (2012). Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genetics in Medicine, 14(4), 405–410. doi:10.1038/gim.2012.21.
Hawkins, A. K. (2010). Biobanks: importance, implications and opportunities for genetic counselors. Journal of Genetic Counseling, 19(5), 423–429. doi:10.1007/s10897-010-9305-1.
Henrikson, N. B., Burke, W., & Veenstra, D. L. (2008). Ancillary risk information and pharmacogenetic tests: social and policy implications. The Pharmacogenomics Journal, 8(2), 85–89. doi:10.1038/sj.tpj.6500457.
Hsieh, H. F., & Shannon, S. E. (2005). Three approaches to qualitative content analysis. Qualitative Health Research, 15(9), 1277–1288. doi:10.1177/1049732305276687.
Keane, M. A. (2008). Institutional review board approaches to the incidental findings problem. The Journal of Law, Medicine & Ethics, 36(2), 352–355. doi:10.1111/j.1748-720X.2008.00279.x. 213.
Kohane, I. S., Masys, D. R., & Altman, R. B. (2006). The incidentalome: a threat to genomic medicine. JAMA: The Journal of the American Medical Association, 296(2), 212–215. doi:10.1001/jama.296.2.212.
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.
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.
Netzer, C., Klein, C., Kohlhase, J., & Kubisch, C. (2009). New challenges for informed consent through whole genome array testing. Journal of Medical Genetics, 46(7), 495–496. doi:10.1136/jmg.2009.068015.
Reis-Filho, J. S. (2009). Next-generation sequencing. Breast Cancer Research, 11(Suppl 3), S12. doi:10.1186/bcr2431.
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.
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.
Simon, C., Shinkunas, L. A., Brandt, D., & Williams, J. K. (2012). Individual genetic and genomic research results and the tradition of informed consent: exploring US review board guidance. Journal of Medical Ethics, 38(7), 417–422. doi:10.1136/medethics-2011-100273.
ten Bosch, J. R., & Grody, W. W. (2008). Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. The Journal of Molecular Diagnostics, 10(6), 484–492. doi:10.2353/jmoldx.2008.080027.
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.
Van Ness, B. (2008). Genomic research and incidental findings. The Journal of Law, Medicine & Ethics, 36(2), 292–297. doi:10.1111/j.1748-720X.2008.00272.x.
Wilfond, B. S., & Carpenter, K. J. (2008). Incidental findings in pediatric research. The Journal of Law, Medicine & Ethics, 36(2), 332–340. doi:10.1111/j.1748-720X.2008.00277.x. 213.
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.
Wolf, S. M. (2012). The past, present, and future of the debate over return of research results and incidental findings. Genetics in Medicine, 14(4), 355–357. doi:10.1038/gim.2012.26.
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.
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.
The study was supported by an (ARRA) grant from the National Human Genome Institute of the National Institutes of Health (NIH) (RC1HG005786). Support was also provided by Grant Number TR000443-06 (training support for DB) from the National Center for Advancing Translational Sciences and the National Institutes of Health (NIH). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. The authors thank the American College of Medical Genetics, the National Society of Genetic Counselors, the International Society of Nurses in Genetics, and the Heartland Regional Genetics & Newborn Screening Collaborative for assistance in recruitment. The authors would also like to thank the University of Northern Iowa Center for Social and Behavioral Research for collaboration on interview guide development, and data collection.
Conflict of interest
None of the authors has a conflict of interest. We have full control of all primary data, and we agree to allow the journal to review the data if requested.
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Brandt, D.S., Shinkunas, L., Hillis, S.L. et al. A Closer Look at the Recommended Criteria for Disclosing Genetic Results: Perspectives of Medical Genetic Specialists, Genomic Researchers, and Institutional Review Board Chairs. J Genet Counsel 22, 544–553 (2013). https://doi.org/10.1007/s10897-013-9583-5
- Incidental findings
- Institutional review board
- Human genome
- Genetic research
- Biomedical ethics
- Genetic testing