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Journal of Genetic Counseling

, Volume 23, Issue 4, pp 661–670 | Cite as

Genetic Counseling Practice in Next Generation Sequencing Research: Implications for the Ethical Oversight of the Informed Consent Process

  • Nathalie Egalite
  • Iris Jaitovich Groisman
  • Beatrice GodardEmail author
Original Research

Abstract

The potential for next generation sequencing research (NGS) to generate individual genetic results could have implications for the informed consent process and the provision of genetic counseling. We undertook a content analysis of informed consent templates and guidelines produced by Canadian institutional review boards, purposively sampling documents used by researchers to obtain consent from participants in genetics studies. Our goal was to examine the extent to which the informed consent documents addressed genetic counseling and the return of individual genetic results. Our analysis reveals that the majority of informed consent documents did not mention genetic counseling while several did not mention the return of results. We found differences in the ways in which documents addressed availability of counseling, eligibility criteria for referral to a genetic counselor, genetic counselor involvement, provision of services to family members of participants and incidental findings. From an ethical standpoint, consent documents should provide appropriate information so that participants may make an informed decision about their participation in research. The need to ensure adequate counseling for study populations in an NGS research context will necessarily involve adapting values that underlie care in genetic counseling practice. If the interests of research participants are to be truly promoted, the drafting and review of informed consent documents should give proper due to genetic counseling.

Keywords

Genetic counseling Next generation sequencing Informed consent Genetic research Return of results Incidental findings Consent forms Ethical issues 

Notes

Acknowledgments

This research and the work presented in the manuscript have been supported by a Genome Quebec grant. For taking the time to review our manuscript, we thank Laurence Baret, genetic counselor. We also thank John Bisping for his linguistic revisions and helpful comments.

Conflict of Interest

Nathalie Egalite declares that she does not have any conflict of interest. Beatrice Godard declares that she does not have any conflict of interest. Iris Jaitovich Groisman serves as a member and consultant on ethics committees in the public and private sectors.

References

  1. Allen, C., & Foulkes, W. D. (2011). Qualitative thematic analysis of consent forms used in cancer genome sequencing. BMC Medical Ethics, 12, 14.CrossRefGoogle Scholar
  2. Austin, J. C., & Honer, W. G. (2007). The genomic era and serious mental illness: a potential application for psychiatric genetic counseling. Psychiatric Services, 58(2), 254–261.CrossRefGoogle Scholar
  3. Baret, L., & Godard, B. (2011). Opinions and intentions of parents of an autistic child toward genetic research results: two typical profiles. European Journal of Human Genetics, 19(11), 1127–1132.CrossRefGoogle Scholar
  4. Biesecker, B. B. (2001). Goals of genetic counseling. Clinical Genetics, 60, 323–330.CrossRefGoogle Scholar
  5. Biesecker, B. B., & Peay, H. L. (2003). Ethical issues in psychiatric genetics research: points to consider. Psychopharmacology, 171(1), 27–35.CrossRefGoogle Scholar
  6. Braggio, E., Egan, J. B., Fonseca, R., & Stewart, A. K. (2013). Lessons from next-generation sequencing analysis in hematological malignancies. Blood Cancer Journal, 3, e127.CrossRefGoogle Scholar
  7. Bras, J., Guerreiro, R., & Hardy, J. (2012). Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Nature Review Neuroscience, 13(7), 453–464.CrossRefGoogle Scholar
  8. Bredenoord, A. L., Kroes, H. Y., Cuppen, E., Parker, M., & van Delden, J. J. (2011). Disclosure of individual genetic data to research participants: the debate reconsidered. Trends in Genetics, 27(2), 41–47.CrossRefGoogle Scholar
  9. Brenner, S., Johnson, M., Bridgham, J., Golda, G., Lloyd, D. H., Johnson, D., et al. (2000). Gene expression analysis by massively parallel signature sequencing (MPSS) on microbead arrays. Nature Biotechnology, 18(6), 630–634. doi: https://doi.org/10.1038/76469.CrossRefGoogle Scholar
  10. Canadian Association of Genetic Counsellors. (2008). Genetic Counselling: A brochure for Canadians seeking assisted human reproduction procedures. Retrieved from https://doi.org/cagc-accg.ca/images/docs/genetic_c_eng%20sm.pdf. Accessed 5 Sept 2013.
  11. Canadian Institutes of Health Research, Natural Sciences and Engineering Research Council of Canada, & Social Sciences and Humanities Research Council of Canada. (2010). Tri-Council Policy Statement: Ethical Conduct for Research Involving Humans (TCPS 2). Retrieved from https://doi.org/www.pre.ethics.gc.ca/pdf/eng/tcps2/TCPS_2_FINAL_Web.pdf. Accessed 22 Oct 2012.
  12. Council for International Organization of Medical Sciences. (2002). International ethical guidelines for biomedical research involving human subjects. Geneva: CIOMS.Google Scholar
  13. Cowan, J., Morales, A., Dagua, J., & Hershberger, R. E. (2008). Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations. Congestive Heart Failure, 14(2), 97–105.CrossRefGoogle Scholar
  14. de Ligt, J., Willemsen, M. H., van Bon, B. W., Kleefstra, T., Yntema, H. G., Kroes, T., et al. (2012). Diagnostic exome sequencing in persons with severe intellectual disability. New England Journal of Medicine, 367(20), 1921–1929.CrossRefGoogle Scholar
  15. Dove, E. S., Avard, D., Black, L., & Knoppers, B. M. (2013). Emerging issues in paediatric health research consent forms in Canada: working towards best practices. BMC Medical Ethics, 14, 5.CrossRefGoogle Scholar
  16. Finn, C. T., & Smoller, J. W. (2006). Genetic counseling in psychiatry. Harvard Review of Psychiatry, 14(2), 109–121.CrossRefGoogle Scholar
  17. Gershon, E. S. (2013). Risk counselling for family members in bipolar disorder and schizophrenia. International Journal of Neuropsychopharmacology, 16(3), 713–714.CrossRefGoogle Scholar
  18. Gilissen, C., Hoischen, A., Brunner, H. G., & Veltman, J. A. (2012). Disease gene identification strategies for exome sequencing. European Journal of Human Genetics, 20(5), 490–497.CrossRefGoogle Scholar
  19. Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., et al. (2013). ACMG Recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565–574.CrossRefGoogle Scholar
  20. Groisman, I. J., Mathieu, G., & Godard, B. (2012). Use of next generation sequencing technologies in research and beyond: are participants with mental health disorders fully protected? BMC Medical Ethics, 13(1), 36.CrossRefGoogle Scholar
  21. Hawkins, A. K., & Ho, A. (2012). Genetic counseling and the ethical issues around direct to consumer genetic testing. Journal of Genetic Counseling, 21(3), 367–373.CrossRefGoogle Scholar
  22. Hoge, S. K., & Appelbaum, P. S. (2012). Ethics and neuropsychiatric genetics: a review of major issues. International Journal of Neuropsychopharmacology, 25, 1–11.Google Scholar
  23. Hoop, J. G. (2008). Ethical considerations in psychiatric genetics. Harvard Review of Psychiatry, 16(6), 322–338.CrossRefGoogle Scholar
  24. Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., et al. (2010). Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron, 68(5), 857–864.CrossRefGoogle Scholar
  25. Kaye, J., Boddington, P., de Vries, J., Hawkins, N., & Melham, K. (2010). Ethical implications of the use of whole genome methods in medical research. European Journal of Human Genetics, 18(4), 398–403.CrossRefGoogle Scholar
  26. Kiezun, A., Garimella, K., Do, R., Stitziel, N. O., Neale, B. M., McLaren, P. J., et al. (2012). Exome sequencing and the genetic basis of complex traits. Nature Genetics, 44(6), 623–630.CrossRefGoogle Scholar
  27. Knoppers, B. M., Joly, Y., Simard, J., & Durocher, F. (2006). The emergence of an ethical duty to disclose genetic research results: international perspectives. European Journal of Human Genetics, 14(11), 1170–1178.CrossRefGoogle Scholar
  28. Krier, J. B., & Green, R. C. (2013). Management of incidental findings in clinical genomic sequencing. Current Protocols in Human Genetics, 77, 9.23.1–9.23.13.Google Scholar
  29. Lyon, G., Jiang, T., Van Wijk, R., Wang, W., Bodily, P., Xing, J., et al. (2011). Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. Discovery Medicine, 12(62), 41–55.PubMedPubMedCentralGoogle Scholar
  30. Markel, D. S., & Yashar, B. M. (2004). The interface between the practice of medical genetics and human genetic research: what every genetic counselor needs to know. Journal of Genetic Counseling, 13(5), 351–368.CrossRefGoogle Scholar
  31. Mathieu, G., Groisman, I. J., & Godard, B. (2013). Next generation sequencing in psychiatric research: what study participants need to know about research findings. The International Journal of Neuropsychopharmacology, 16(9), 2119–2127.CrossRefGoogle Scholar
  32. McGuire, A. L., Caulfield, T., & Cho, M. K. (2008). Research ethics and the challenge of whole-genome sequencing. Nature Reviews Genetics, 9, 152–156.CrossRefGoogle Scholar
  33. McMahon, W. M., Baty, B. J., & Botkin, J. (2006). Genetic counseling and ethical issues for autism. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 142C(1), 52–57.CrossRefGoogle Scholar
  34. Meltzer, L. A. (2006). Undesirable implications of disclosing individual genetic results to research participants. The American Journal of Bioethics, 6(6), 28–30.CrossRefGoogle Scholar
  35. Metzker, M. L. (2010). Sequencing technologies—the next generation. Nature Reviews Genetics, 11(1), 31–46.CrossRefGoogle Scholar
  36. National Society of Genetic Counselors. (2006). The code of ethics of the National Society of Genetic Counselors. Journal of Genetic Counseling, 15(5), 309–311.CrossRefGoogle Scholar
  37. Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., et al. (2010). Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics, 42(1), 30–35.CrossRefGoogle Scholar
  38. Panoutsopoulou, K., Tachmazidou, I., & Zeggini, E. (2013). In search of low-frequency and rare variants affecting complex traits. Human Molecular Genetics, 22(R1), R16–R21.CrossRefGoogle Scholar
  39. Parker, L. S. (2002). Ethical issues in bipolar disorders pedigree research: privacy concerns, informed consent, and grounds for waiver. Bipolar Disorders, 4(1), 1–16.CrossRefGoogle Scholar
  40. Rotimi, C., & Marshall, P. (2010). Tailoring the process of informed consent in genetic and genomic research. Genome Medicine, 2(3), 20.CrossRefGoogle Scholar
  41. Sijmons, R. H., Van Langen, I. M., & Sijmons, J. G. (2011). A clinical perspective on ethical issues in genetic testing. Accountability in Research, 18(3), 148–162.CrossRefGoogle Scholar
  42. 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.CrossRefGoogle Scholar
  43. Tabor, H. K., Berkman, B. E., Hull, S. C., & Bamshad, M. J. (2011). Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. American Journal of Medical Genetics Part A, 155A(12), 2916–2924.CrossRefGoogle Scholar
  44. Tabor, H. K., Stock, J., Brazg, T., McMillin, M. J., Dent, K. M., Yu, J. H., et al. (2012). Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. American Journal of Medical Genetics Part A, 158A(6), 1310–1319.CrossRefGoogle Scholar
  45. Vaismoradi, M., Turunen, H., & Bondas, T. (2013). Content analysis and thematic analysis: Implications for conducting a qualitative descriptive study. Nursing & Health Sciences, 15(3), 398–405.CrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  • Nathalie Egalite
    • 1
  • Iris Jaitovich Groisman
    • 1
  • Beatrice Godard
    • 1
    Email author
  1. 1.Groupe de recherche Omics-Ethics, Programmes de bioéthique, École de santé publiqueUniversité de MontréalMontrealCanada

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