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Genomic Testing: a Genetic Counselor’s Personal Reflection on Three Years of Consenting and Testing

  • Genetic Counselor Development
  • Published:
Journal of Genetic Counseling

Abstract

Whole exome sequencing (WES) is increasingly used in research and clinical genetics as the cost of sequencing decreases and the interpretation improves. Genetic counselors need to be prepared to counsel a diverse patient population for this complex test. This commentary is a reflection of one genetic counselor’s experiences in counseling, consenting, and returning results for clinical and research WES for over 120 participants and patients. She reflects on how she overcame the initial challenges and concerns of counseling for WES and how her counseling evolved from a teaching based counseling model to an interactive patient-center counseling model. Her insights are offered to prepare other genetic counselors for the growing use of genomic testing.

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References

  • Amendola, L., Dautenbach, D., Scollon, S., Bernhardt, B., Biswas, S., East, K., et al. (2015). Illustrative Case Studies in the Return of Exome and Genome Sequencing Results. Personalized Medicine. Advance online publication. doi:10.2217/pme.14.89.

  • American College of Medical, G., & Genomics. (2013). Incidental findings in clinical genomics: a clarification. Genetics in Medicine, 15(8), 664–666.

    Article  Google Scholar 

  • Appelbaum, P. S., Fyer, A., Klitzman, R. L., Martinez, J., Parens, E., Zhang, Y., et al. (2014). Researchers’ views on informed consent for return of secondary results in genomic research. Genetic Medicine.

  • Austin, J., Semaka, A., & Hadjipavlou, G. (2014). Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine. Journal of Genetic Counseling, 23(6), 903–909.

    Article  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Berg, J. S., Adams, M., Nassar, N., Bizon, C., Lee, K., Schmitt, C. P., et al. (2013). An informatics approach to analyzing the incidentalome. Genetics in Medicine, 15(1), 36–44.

    Article  CAS  PubMed  Google Scholar 

  • Bernhardt, B. A., Kellom, K., Barbarese, A., Faucett, W. A., & Wapner, R. J. (2014). An exploration of genetic counselors’ needs and experiences with prenatal chromosomal microarray testing. Journal of Genetic Counseling, 23(6), 938–947.

    Article  PubMed  PubMed Central  Google Scholar 

  • Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I. R., Zumbo, P., et al. (2009). Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proceedings of the National Academy of Sciences of the United States of America, 106(45), 19096–19101.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Committee On, B., Committee On Genetics, A. N. D., American College Of Medical Genetics, A. N. D., Genomics, S., Ethical, & Legal Issues, C. (2013). Ethical and policy issues in genetic testing and screening of children. Pediatrics, 131(3), 620–622.

    Article  Google Scholar 

  • Dimmock, D. (2013). Whole genome sequencing: a considered approach to clinical implementation. Curr Protoc Hum Genet, Chapter 9, Unit9 22.

  • Farwell, K. D., Shahmirzadi, L., El-Khechen, D., Powis, Z., Chao, E. C., Davis, B. T., et al. (2014). Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genetic Medicine, 17(7), 578-86.

  • Glazov, E. A., Zankl, A., Donskoi, M., Kenna, T. J., Thomas, G. P., Clark, G. R., et al. (2011). Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genetics, 7(3), e1002027.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Green, R. C., Berg, J. S., 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.

    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. (2013a). 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 

  • Green, R. C., Lupski, J. R., & Biesecker, L. G. (2013b). Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA, 310(4), 365–366.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Henderson, G. E., Wolf, S. M., Kuczynski, K. J., Joffe, S., Sharp, R. R., Parsons, D. W., et al. (2014). The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations. The Journal of Law, Medicine & Ethics, 42(3), 344–355.

    Article  Google Scholar 

  • Iglesias, A., Anyane-Yeboa, K., Wynn, J., Wilson, A., Truitt Cho, M., Guzman, E., et al. (2014). The usefulness of whole-exome sequencing in routine clinical practice. Genetics in Medicine, 16(12), 922–931.

    Article  PubMed  Google Scholar 

  • Kessler, S. (1997). Psychological aspects of genetic counseling IX. Teaching and counseling. Journal of Genetic Counseling, 6(3), 287.

    Article  CAS  PubMed  Google Scholar 

  • Khan, C. M., Rini, C., Bernhardt, B. A., Roberts, J. S., Christensen, K. D., Evans, J. P., et al. (2015). How can psychological science inform research about genetic counseling for clinical genomic sequencing? Journal of Genetic Counseling, 24(2), 193–204.

    Article  PubMed  Google Scholar 

  • Klee, E. W., Hoppman-Chaney, N. L., & Ferber, M. J. (2011). Expanding DNA diagnostic panel testing: is more better? Expert Review of Molecular Diagnostics, 11(7), 703–709.

    Article  CAS  PubMed  Google Scholar 

  • Klitzman, R., Appelbaum, P. S., & Chung, W. (2013a). Return of secondary genomic findings vs patient autonomy: implications for medical care. JAMA, 310(4), 369–370.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Klitzman, R., Appelbaum, P. S., Fyer, A., Martinez, J., Buquez, B., Wynn, J., et al. (2013b). Researchers’ views on return of incidental genomic research results: qualitative and quantitative findings. Genetics in Medicine, 15(11), 888–895.

    Article  PubMed  Google Scholar 

  • Majewski, J., Schwartzentruber, J., Lalonde, E., Montpetit, A., & Jabado, N. (2011). What can exome sequencing do for you? Journal of Medical Genetics, 48(9), 580–589.

    Article  CAS  PubMed  Google Scholar 

  • McGuire, A. L., Joffe, S., Koenig, B. A., Biesecker, B. B., McCullough, L. B., Blumenthal-Barby, J. S., et al. (2013). Point-counterpoint. Ethics and genomic incidental findings. Science, 340(6136), 1047–1048.

    Article  CAS  PubMed  PubMed Central  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 

  • Thompson, R., Drew, C. J., & Thomas, R. H. (2012). Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges. Advances in Protein Chemistry and Structural Biology, 89, 27–63.

    Article  CAS  PubMed  Google Scholar 

  • Tomlinson, A., Skinner, D., Perry, D., Scollon, S., Roche, M., & Bernhardt, B. (2015). “Not Tied Up Neatly with a Bow”: Professionals’ Challenging Cases in Informed Consent for Genomic Sequencing. Journal of Genetic Counseling, 1–11. Advance online publication. doi:10.1007/s10897-015-9842-8.

  • Worthey, E. A., Mayer, A. N., Syverson, G. D., Helbling, D., Bonacci, B. B., Decker, B., et al. (2011). Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genetics in Medicine, 13(3), 255–262.

    Article  PubMed  Google Scholar 

  • Wynn, J., Martinez, J., Duong, J., Zhang, Y., Phelan, J., Fyer, A., et al. (2015). Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research. Journal of Genetic Counseling. Advance online publication. doi:10.1007/s10897-014-9817-1.

  • Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., et al. (2014). Molecular findings among patients referred for clinical whole-exome sequencing. JAMA, 312(18), 1870–1879.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Acknowledgments

I am greatly appreciative of Barbara Bernhardt’s guidance and encouragement in the preparation of this manuscript, Dr. Wendy Chung’s mentorship and to Kevin Lynch for his careful edits.

I am appreciative of all the individuals who have participated in our study and my clinical patients.

The research presented in this work was funded by a grant from the National Human Genome Research Institute: R01 HG006600 (Dr. Chung).

Conflict of Interest

Julia Wynn declares that she has no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all subjects for being included in the study.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Genetics, Columbia University Medical Center, New York, NY, USA

    Julia Wynn

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  1. Julia Wynn
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Correspondence to Julia Wynn.

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Wynn, J. Genomic Testing: a Genetic Counselor’s Personal Reflection on Three Years of Consenting and Testing. J Genet Counsel 25, 691–697 (2016). https://doi.org/10.1007/s10897-015-9868-y

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  • DOI: https://doi.org/10.1007/s10897-015-9868-y

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