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Journal of Genetic Counseling

, Volume 21, Issue 3, pp 399–401 | Cite as

Psychological Distress with Direct-to-Consumer Genetic Testing: A Case Report of an Unexpected BRCA Positive Test Result

  • Lindsay Dohany
  • Shanna Gustafson
  • Whitney Ducaine
  • Dana Zakalik
Case Study

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.

Keywords

Direct to consumer genetic testing Genetic counseling DTC BRCA Hereditary Breast and Ovarian Cancer syndrome 

References

  1. 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.PubMedCrossRefGoogle Scholar
  2. 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.PubMedGoogle Scholar
  3. Caulfield, T. (2011). Direct-to-consumer testing: if consumers are not anxious, why are policymakers? Human Genetics, 130, 23–25.PubMedCrossRefGoogle Scholar
  4. 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.PubMedCrossRefGoogle Scholar
  5. Hull, S. C., & Prasad, K. (2001). Reading between the lines: direct-to-consumer advertising of genetic testing. The Hastings Center Report, 31, 33–35.PubMedCrossRefGoogle Scholar
  6. 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.PubMedCrossRefGoogle Scholar
  7. Matloff, E. (2008). Direct to confusion: lessons learned from marketing BRCA testing. The American Journal of Bioethics, 8, 5–8.PubMedCrossRefGoogle Scholar
  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.PubMedCrossRefGoogle Scholar
  9. Schneider, K. (2002). Counseling about cancer. New York, New York: Wiley-Liss, Inc.Google Scholar
  10. 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.PubMedCrossRefGoogle Scholar
  11. Weil, J. (2000). Psychosocial genetic counseling. New York, New York: Oxford University Press, Inc.Google Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  • Lindsay Dohany
    • 1
  • Shanna Gustafson
    • 1
  • Whitney Ducaine
    • 1
  • Dana Zakalik
    • 1
  1. 1.Beaumont Cancer Genetics ProgramBeaumont Health SystemRoyal OakUSA

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