Journal of Genetic Counseling

, Volume 22, Issue 4, pp 544–553

A Closer Look at the Recommended Criteria for Disclosing Genetic Results: Perspectives of Medical Genetic Specialists, Genomic Researchers, and Institutional Review Board Chairs

  • Debra S. Brandt
  • Laura Shinkunas
  • Stephen L. Hillis
  • Sandra E. Daack-Hirsch
  • Martha Driessnack
  • Nancy R. Downing
  • Megan F. Liu
  • Lisa L. Shah
  • Janet K. Williams
  • Christian M. Simon
Original Research


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.


Incidental findings Institutional review board Human genome Genetic research Biomedical ethics Genetic testing 


  1. 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.PubMedCrossRefGoogle Scholar
  2. Beskow, L. M., & Burke, W. (2010). Offering individual genetic research results: context matters. Science Translational Medicine, 2(38), 38cm20. doi:10.1126/scitranslmed.3000952.PubMedCrossRefGoogle Scholar
  3. 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.PubMedCrossRefGoogle Scholar
  4. 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.CrossRefGoogle Scholar
  5. 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.Google Scholar
  6. 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.PubMedCrossRefGoogle Scholar
  7. 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
  8. 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.PubMedCrossRefGoogle Scholar
  9. Center for Disease Control and Prevention (CDC). (2010). Genomic testing. Accessed 22 August 2012.
  10. 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 Scholar
  11. 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].
  12. 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.PubMedCrossRefGoogle Scholar
  13. 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
  14. 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
  15. 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.PubMedCrossRefGoogle Scholar
  16. 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.PubMedCrossRefGoogle Scholar
  17. 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.PubMedCrossRefGoogle Scholar
  18. Hsieh, H. F., & Shannon, S. E. (2005). Three approaches to qualitative content analysis. Qualitative Health Research, 15(9), 1277–1288. doi:10.1177/1049732305276687.PubMedCrossRefGoogle Scholar
  19. 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.CrossRefGoogle Scholar
  20. 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.CrossRefGoogle Scholar
  21. 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
  22. National Bioethics Advisory Comission (NBAC). (1999). Research involving human biological materials: Ethical issues and policy guidance, vol. 1. Accessed 30 May 2012.
  23. 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.PubMedCrossRefGoogle Scholar
  24. Reis-Filho, J. S. (2009). Next-generation sequencing. Breast Cancer Research, 11(Suppl 3), S12. doi:10.1186/bcr2431.PubMedCrossRefGoogle Scholar
  25. 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
  26. 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
  27. 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.PubMedCrossRefGoogle Scholar
  28. 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.PubMedCrossRefGoogle Scholar
  29. 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
  30. 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.CrossRefGoogle Scholar
  31. 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.CrossRefGoogle Scholar
  32. 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
  33. 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.PubMedCrossRefGoogle Scholar
  34. 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
  35. 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

Copyright information

© National Society of Genetic Counselors, Inc. 2013

Authors and Affiliations

  • Debra S. Brandt
    • 1
    • 2
  • Laura Shinkunas
    • 3
  • Stephen L. Hillis
    • 4
    • 5
    • 6
  • Sandra E. Daack-Hirsch
    • 2
  • Martha Driessnack
    • 7
  • Nancy R. Downing
    • 2
  • Megan F. Liu
    • 8
  • Lisa L. Shah
    • 2
  • Janet K. Williams
    • 2
  • Christian M. Simon
    • 3
    • 9
  1. 1.The University of IowaInstitute for Clinical and Translational ScienceIowa CityUSA
  2. 2.The University of IowaCollege of NursingIowa CityUSA
  3. 3.The University of Iowa Carver College of MedicineProgram in Bioethics and HumanitiesIowa CityUSA
  4. 4.Department of RadiologyThe University of IowaIowa CityUSA
  5. 5.Department of BiostatisticsThe University of IowaIowa CityUSA
  6. 6.Comprehensive Access and Delivery Research and Evaluation (CADRE) CenterIowa City VA Health Care SystemIowa CityUSA
  7. 7.Oregon Health & Science UniversitySchool of NursingPortlandUSA
  8. 8.Taipei Medical University College of NursingSchool of Geriatric Nursing and Care ManagementTaipei CityTaiwan
  9. 9.Department of Internal MedicineThe University of Iowa Carver College of MedicineIowa CityUSA

Personalised recommendations