Abstract
We report a case of a client who discovered she had a BRCA mutation following direct-to-consumer (DTC) genetic testing in the absence of genetic counseling. After testing she presented for genetic counseling with anxiety, distress, and a deficit of knowledge about what the DTC genetic testing revealed. Genetic counseling helped alleviate distress while empowering the client to apply the results of testing to improve medical management. Despite recent studies demonstrating no negative psychological impact of DTC genetic testing on the consumer, this case illustrates that significant psychological distress and confusion can occur as a result of DTC genetic testing for highly penetrant single gene disorders. Pre- and post-test genetic counseling in conjunction with DTC genetic testing may alleviate consumers’ distress and empower clients to proactively utilize their result information.
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Bloss, C. S., Schork, N. J., & Topol, E. J. (2011). Effect of direct-to-consumer genomewide profiling to assess disease risk. The New England Journal of Medicine, 364, 524–534.
Brierley, K., Campfield, D., Ducaine, W., Dohany, L., Donenberg, T., Shannon, K., et al. (2010). Errors in delivery of cancer genetic services: implications for practice. Connecticut Medicine, 74, 413–423.
Caulfield, T. (2011). Direct-to-consumer testing: if consumers are not anxious, why are policymakers? Human Genetics, 130, 23–25.
Gollust, S. E., Hull, S. C., & Wilfond, B. S. (2002). Limitations of direct-to-consumer advertising for clinical genetic testing. Journal of the American Medical Association, 288, 1762–1767.
Hull, S. C., & Prasad, K. (2001). Reading between the lines: direct-to-consumer advertising of genetic testing. The Hastings Center Report, 31, 33–35.
King, M., Marks, J., Mandell, J. B., & New York Breast Study Group. (2003). Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science, 302, 643–646.
Matloff, E. (2008). Direct to confusion: lessons learned from marketing BRCA testing. The American Journal of Bioethics, 8, 5–8.
McKinnon, W. C., Baty, B. J., Bennett, R. L., Magee, M., Neufeld-Kaiser, W. A., Peters, K. F., et al. (1997). Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors. Journal of the American Medical Association, 278, 1217–1220.
Schneider, K. (2002). Counseling about cancer. New York, New York: Wiley-Liss, Inc.
Wade, C., & Wildonf, B. (2006). Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests. American Journal of Medical Genetics, 142C, 284–292.
Weil, J. (2000). Psychosocial genetic counseling. New York, New York: Oxford University Press, Inc.
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Dohany, L., Gustafson, S., Ducaine, W. et al. Psychological Distress with Direct-to-Consumer Genetic Testing: A Case Report of an Unexpected BRCA Positive Test Result. J Genet Counsel 21, 399–401 (2012). https://doi.org/10.1007/s10897-011-9475-5
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DOI: https://doi.org/10.1007/s10897-011-9475-5