Abstract
The impacts of the Association for Molecular Pathology vs. Myriad Supreme Court decision regarding patenting DNA segments and multi-gene testing on cancer genetic counseling practice have not been well described. We aimed to assess genetic counselors’ perceptions of how their genetic testing-related practices for hereditary breast and/or ovarian cancer (HBOC) changed after these events. One-hundred fifty-two genetic counselors from the National Society of Genetic Counselors Cancer Special Interest Group completed an anonymous, online, mixed-methods survey in November 2013. The survey presented four hypothetical patients and asked about changes in testing practice. Across the vignettes, a majority of participants reported specific changes in testing decisions following Association for Molecular Pathology vs. Myriad and availability of multi-gene testing. Ninety-three percent of participants reported changing the types of first- and second-line tests they order for HBOC; the degree of change varied geographically. Qualitative analysis indicated that some counselors have altered the counseling session content, trading depth of information for breadth and spending more time counseling about uncertainty. This study shows that cancer genetic counselors are adapting quickly to genetic testing changes, but with wide variability. Findings suggest future research to elucidate clinicians’ and patients’ preferences for guidance on the clinical implementation of next-generation sequencing.
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References
Association for Molecular Pathology v. Myriad Genetics (2013). 133 U.S. Supreme Court 2107 C.F.R.
Berliner, J. L., Fay, A. M., Cummings, S. A., Burnett, B., & Tillmanns, T. (2013). NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. Journal of Genetic Counseling, 22(2), 155–163.
Borzekowski, D. L., Guan, Y., Smith, K. C., Erby, L. H., & Roter, D. L. (2014). The Angelina effect: immediate reach, grasp, and impact of going public. Genetics in Medicine, 16(7), 516–521.
Bradbury, A. R., Patrick-Miller, L., Long, J., Powers, J., Stopfer, J., Forman, A., et al. (2015). Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility. Genetics in Medicine, 17(6), 485–492.
Butrick, M. N., Vanhusen, L., Leventhal, K. G., Hooker, G. W., Nusbaum, R., Peshkin, B. N., et al. (2014). Discussing race-related limitations of genomic testing for colon cancer risk: implications for education and counseling. Social Science & Medicine, 114, 26–37.
Domchek, S. M., Bradbury, A., Garber, J. E., Offit, K., & Robson, M. E. (2013). Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? Journal of Clinical Oncology, 31(10), 1267–1270.
Fecteau, H., Vogel, K. J., Hanson, K., & Morrill-Cornelius, S. (2014). The evolution of cancer risk assessment in the era of next generation sequencing. Journal of Genetic Counseling, 23(4), 633–639.
Habermann, E. B., Abbott, A., Parsons, H. M., Virnig, B. A., Al-Refaie, W. B., & Tuttle, T. M. (2010). Are mastectomy rates really increasing in the United States? Journal of Clinical Oncology, 28(21), 3437–3441.
Hsieh, H. F., & Shannon, S. E. (2005). Three approaches to qualitative content analysis. Qualitative Health Research, 15(9), 1277–1288.
Jolie, A. (2013). My medical choice. The New York Times, May 14, A25.
Kurian, A. W., & Ford, J. M. (2015). Multigene panel testing in oncology practice: how should we respond? JAMA Oncology, 1(3), 277–278.
LaDuca, H., Stuenkel, A. J., Dolinsky, J. S., Keiles, S., Tandy, S., Pesaran, T., et al. (2014). Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genetics in Medicine, 16(11), 830–837.
Mauer, C. B., Pirzadeh-Miller, S. M., Robinson, L. D., & Euhus, D. M. (2014). The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience. Genetics in Medicine, 16(5), 407–412.
Nattinger, A. B., Gottlieb, M. S., Veum, J., Yahnke, D., & Goodwin, J. S. (1992). Geographic variation in the use of breast-conserving treatment for breast cancer. The New England Journal of Medicine, 326(17), 1102–1107.
NSGC. (2014). 2014 professional status survey: work environment. Retrieved February 24, 2015, from http://nsgc.org/p/do/sd/sid=2478&type=0
Rainville, I. R., & Rana, H. Q. (2014). Next-generation sequencing for inherited breast cancer risk: counseling through the complexity. Current Oncology Reports, 16(3), 371.
Roter, D., Ellington, L., Erby, L. H., Larson, S., & Dudley, W. (2006). The genetic counseling video project (GCVP): models of practice. Am J Med Genet C Semin Med Genet, 142c(4), 209–220.
Selkirk, C. G., Vogel, K. J., Newlin, A. C., Weissman, S. M., Weiss, S. M., Wang, C. H., & Hulick, P. J. (2014). Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice. Familial Cancer, 13(4), 527–536.
Stadler, Z. K., Schrader, K. A., Vijai, J., Robson, M. E., & Offit, K. (2014). Cancer genomics and inherited risk. Journal of Clinical Oncology, 32(7), 687–698.
Tung, N., Battelli, C., Allen, B., Kaldate, R., Bhatnagar, S., Bowles, K., et al. (2015). Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer, 121(1), 25–33.
Wicklund, C., & Trepanier, A. (2014). Adapting genetic counseling training to the genomic era: more an evolution than a revolution. Journal of Genetic Counseling, 23(4), 452–454.
Acknowledgements
The authors thank the National Society of Genetic Counselors’ Cancer Special Interest Group for the use of their online survey software account. The authors recognize Christy Haakonsen for her comments on drafts of the manuscript.
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The Cancer Special Interest Group of the National Society of Genetic Counselors paid for the Survey Monkey account used to administer the study survey; no other funding was provided for this study.
Conflicts of Interest
Dr. Hooker is a paid employee of NextGxDx, Inc. Dr. Rhoads Clemens’ and Dr. Quillin’s work has been funded by the NIH. Ms.Vogel Postula is a paid employee of GeneDx. Ms. Summerour is a paid employee of Ambry Genetics. Ms. Nagy is a paid employee of Guardant Health and owns stock in Guardant Health. Mr. Buchanan’s work has been funded by the NIH. The authors declare that these relationships do not represent a conflict of interest relative to the subject of this report. All co-authors currently employed by for-profit companies took these positions after the study was conceptualized and data was acquired.
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). The study was exempted from review by the Ohio State University Institutional Review Board. Participants were anonymous, with consent implied by their completion of the online study survey.
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No animal studies were carried out by the authors for this article.
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Hooker, G.W., Clemens, K.R., Quillin, J. et al. Cancer Genetic Counseling and Testing in an Era of Rapid Change. J Genet Counsel 26, 1244–1253 (2017). https://doi.org/10.1007/s10897-017-0099-2
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DOI: https://doi.org/10.1007/s10897-017-0099-2