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

  • Original Research
  • Published:
Journal of Genetic Counseling

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.

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Notes

  1. We maintained total anonymity of the IRBs that were the source of the texts analyzed herein. We analyzed the IRB-approved consent forms for NGS research in mental health as one set to avoid identification of the research groups and because the number of documents was insufficient for comparative purposes. Content written in French—as per the language of the informed consent document—was translated and is presented here in English.

References

  • Allen, C., & Foulkes, W. D. (2011). Qualitative thematic analysis of consent forms used in cancer genome sequencing. BMC Medical Ethics, 12, 14.

    Article  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  PubMed Central  Google Scholar 

  • Biesecker, B. B. (2001). Goals of genetic counseling. Clinical Genetics, 60, 323–330.

    Article  CAS  PubMed  Google Scholar 

  • Biesecker, B. B., & Peay, H. L. (2003). Ethical issues in psychiatric genetics research: points to consider. Psychopharmacology, 171(1), 27–35.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  CAS  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

  • 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.

  • Council for International Organization of Medical Sciences. (2002). International ethical guidelines for biomedical research involving human subjects. Geneva: CIOMS.

    Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  PubMed Central  Google Scholar 

  • Finn, C. T., & Smoller, J. W. (2006). Genetic counseling in psychiatry. Harvard Review of Psychiatry, 14(2), 109–121.

    Article  PubMed  Google Scholar 

  • Gershon, E. S. (2013). Risk counselling for family members in bipolar disorder and schizophrenia. International Journal of Neuropsychopharmacology, 16(3), 713–714.

    Article  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  PubMed  PubMed Central  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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 

  • Hoop, J. G. (2008). Ethical considerations in psychiatric genetics. Harvard Review of Psychiatry, 16(6), 322–338.

    Article  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

  • 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.

    PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • McGuire, A. L., Caulfield, T., & Cho, M. K. (2008). Research ethics and the challenge of whole-genome sequencing. Nature Reviews Genetics, 9, 152–156.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Meltzer, L. A. (2006). Undesirable implications of disclosing individual genetic results to research participants. The American Journal of Bioethics, 6(6), 28–30.

    Article  PubMed  Google Scholar 

  • Metzker, M. L. (2010). Sequencing technologies—the next generation. Nature Reviews Genetics, 11(1), 31–46.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Rotimi, C., & Marshall, P. (2010). Tailoring the process of informed consent in genetic and genomic research. Genome Medicine, 2(3), 20.

    Article  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google 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.

    Article  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • 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.

    Article  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  Google Scholar 

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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.

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  1. Groupe de recherche Omics-Ethics, Programmes de bioéthique, École de santé publique, Université de Montréal, C.P. 6128, succ. Centre-ville, Montreal, Quebec, H3C 3J7, Canada

    Nathalie Egalite, Iris Jaitovich Groisman & Beatrice Godard

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  1. Nathalie Egalite
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  2. Iris Jaitovich Groisman
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  3. Beatrice Godard
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Correspondence to Beatrice Godard.

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Egalite, N., Groisman, I.J. & Godard, B. Genetic Counseling Practice in Next Generation Sequencing Research: Implications for the Ethical Oversight of the Informed Consent Process. J Genet Counsel 23, 661–670 (2014). https://doi.org/10.1007/s10897-014-9703-x

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  • DOI: https://doi.org/10.1007/s10897-014-9703-x

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