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What to Do with a Second Chance in Life? Long-Term Experiences of Non-carriers of Huntington’s Disease

  • Elisabeth Winnberg
  • Ulrika Winnberg
  • Lilian Pohlkamp
  • Anette Hagberg
Original Research

Abstract

Little is known about how people’s lives are influenced when going from a 50% risk status of Huntington’s disease (HD) to no risk after performing predictive testing. In this study, 20 interviews were conducted to explore the long-term (> 5 years) experiences after receiving predictive test results as a non-carrier of HD. The results showed a broad variety of both positive and negative reactions. The most prominent positive reaction reported was feelings of relief and gratitude, of not carrying the HD mutation for themselves and for their children. Also, the non-carrier status promoted in some individuals’ significant life changes such as a wishing to have (more) children, pursuing a career or breaking up from an unhappy relationship. However, negative reactions on their psychological well-being were also described. Some had experienced psychological pressure of needing to do something extraordinary in their lives; others expressed feelings of guilt towards affected or untested siblings, resulting in sadness or clinical depression. The new genetic risk status could generate a need of re-orientation, a process that for some persons took several years to accomplish. The results of the present study show the importance of offering long-term post-result counselling for non-carriers in order to deal with the psychological consequences that may follow predictive testing.

Keywords

Huntington’s disease Predictive testing Non-carriers Psychological impact Experience Survivor guilt Qualitative study Genetic counselling 

Notes

Acknowledgments

We are grateful to all participants for participating in this study. We thank Dr. The-Hung Bui at the Department of Clinical Genetics, Karolinska University Hospital, Stockholm, for the approval of contacting the participants. This work was supported by The Swedish Association for Persons with Neurological Disabilities.

Compliance with Ethical Standards

Conflict of Interest

The authors Elisabeth Winnberg, Ulrika Winnberg, Lilian Pohlkamp and Anette Hagberg declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

Supplementary material

10897_2018_257_MOESM1_ESM.docx (14 kb)
ESM 1 (DOCX 14 kb)

References

  1. Almqvist, E., Robins Wahlin, T.-B., Haegermark, A., Lundin, A., Winblad, B., & Anvret, M. (1994). Problems within the sibship experienced during predictive testing for Huntington’s disease. Abstract from 4th European meeting on psychosocial aspects of genetics, Heidelberg University, 12th–14th of September, 1994.Google Scholar
  2. Almqvist, E. W., Bloch, M., Brinkman, R., Craufurd, D., Hayden, M. R., & on behalf on an international Huntington disease collaborative group. (1999). A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. American Journal of Human Genetics, 64, 1293–1304.CrossRefPubMedPubMedCentralGoogle Scholar
  3. Almqvist, E. W., Brinkman, R., Wiggins, S., & Hayden, M. R. (2003). Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington’s disease. Clinical Genetics, 64, 300–309.CrossRefPubMedGoogle Scholar
  4. Codori, A.-M., & Brandt, J. (1994). Psychological costs and benefits of predictive testing for Huntington’s disease. American Journal of Medical Genetics, 54, 174–184.CrossRefPubMedGoogle Scholar
  5. Creswell, J. W., & Poth, C. N. (2017). Qualitative inquiry and research design: choosing among five approaches (4th ed.). Los Angeles: Sage Publications.Google Scholar
  6. Crozier, S., Robertson, N., & Dale, M. (2015). The psychological impact of predictive genetic testing for Huntington’s disease: a systematic review of the literature. Journal of Genetic Counseling, 24, 29–39.  https://doi.org/10.1007/s10897-014-9755-y.CrossRefPubMedGoogle Scholar
  7. Decruyenaere, M., Evers-Kiebooms, G., Cloostermans, T., Boogaerts, A., Demyttenaere, K., Dom, R., & Fryns, J. P. (2003). Psychological distress in the 5-year period after predictive testing for Huntington’s disease. European Journal of Human Genetics, 11, 30–38.  https://doi.org/10.1038/sj.ejhg.5200913.CrossRefPubMedGoogle Scholar
  8. Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2007). “Holding your breath”: interviews with young people who have undergone predictive genetic testing for Huntington disease. American Journal of Medical Genetics A, 143, 1984–1989.  https://doi.org/10.1002/ajmg.a.31720.CrossRefGoogle Scholar
  9. Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2008). “You’re one of us now”: young people describe their experience of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP). American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 148C, 47–55.  https://doi.org/10.1002/ajmg.c.30158.CrossRefGoogle Scholar
  10. Forrest Keenan, K., McKee, L., & Miedzybrodzka, Z. (2015). Help or hindrance: young people’s experiences of predictive testing for Huntington’s disease. Clinical Genetics, 87, 563–569.  https://doi.org/10.1111/cge.12439.CrossRefPubMedGoogle Scholar
  11. Gargiulo, M., Lejeune, S., Tanguy, M.-L., Lahlou-Laforêt, K., Faudet, A., Cohen, D., Feingold, J., & Durr, A. (2009). Long-term outcome of presymptomatic testing in Huntington disease. European Journal of Human Genetics, 17, 165–171.  https://doi.org/10.1038/ejhg.2008.146.CrossRefPubMedGoogle Scholar
  12. Gillies, J., & Neimeyer, R. A. (2006). Loss, grief, and the search for significance: toward a model of meaning reconstruction in bereavement. Journal of Constructivist Psychology, 19(1), 31–65.  https://doi.org/10.1080/10720530500311182.CrossRefGoogle Scholar
  13. Graneheim, U. H., & Lundman, B. (2004). Qualitative content analysis in nursing research: concept, procedures and measures to achieve trustworthiness. Nurse Education Today, 24, 105–112.  https://doi.org/10.1016/j.nedt.2003.10.001.CrossRefPubMedGoogle Scholar
  14. Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, S. L., Anderson, M. A., Tanzi, R. E., Watkins, P. C., Ottina, K., Wallace, M. R., Sakaguchi, A. Y., Young, A. B., Shoulson, I., Bonilla, E., & Martin, J. B. (1983). A polymorphic DNA marker genetically linked to Huntington’s disease. Nature, 306, 234–238.CrossRefPubMedGoogle Scholar
  15. Hagberg, A., Bui, T.-H., & Winnberg, E. (2011). More appreciation of life or regretting the test? Experiences of living as a mutation carrier of Huntington’s disease. Journal of Genetic Counseling, 20, 70–79.  https://doi.org/10.1007/s10897-010-9329-6.CrossRefPubMedGoogle Scholar
  16. Hayden, M. R. (1981). Huntington’s chorea. Berlin: Springer Verlag.CrossRefGoogle Scholar
  17. Huggins, M., Bloch, M., Adam, S., Suchowersky, O., Trew, M., Klimek, M., et al. (1992). Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. American Journal of Medical Genetics, 42, 508–515.CrossRefPubMedGoogle Scholar
  18. Hutson, S. P., Hall, J. M., & Pack, F. L. (2015). Survivor guilt. Analyzing the concept and its contexts. Advances in Nursing Science, 38(1), 20–33.  https://doi.org/10.1097/ANS.0000000000000058.CrossRefPubMedGoogle Scholar
  19. Larsson, M. U., Luszcz, M. A., Bui, T.-H., & Robins Wahlin, T.-B. (2006). Depression and suicidal ideation after predictive testing for Huntington’s disease: a two-year follow up study. Journal of Genetic Counseling, 15(5), 361–374.  https://doi.org/10.1007/s10897-006-9027-6.CrossRefPubMedGoogle Scholar
  20. Licklederer, C., Wolff, G., & Barth, J. (2008). Mental health and quality of life after genetic testing for Huntington disease: a long-term effect study in Germany. American Journal of Medical Genetics Part A, 146A, 2078–2085.  https://doi.org/10.1002/ajmg.a.32423.CrossRefPubMedGoogle Scholar
  21. Lilja Andersson, P., Juth, N., Petersen, Å., Graff, C., & Edberg, A.-K. (2012). Ethical aspects of undergoing a predictive testing for Huntington’s disease. Nursing Ethics, 20(2), 189–199.CrossRefGoogle Scholar
  22. MacLeod, R., Tibben, A., Frontali, M., Evers-Kiebooms, G., Jones, A., Matinez-Descales, A., et al. (2013). Recommendations for the predictive genetic test in Huntington’s disease. Clinical Genetics, 83, 221–231.  https://doi.org/10.1111/j.1399-0004.2012.01900.x.CrossRefPubMedGoogle Scholar
  23. Richards, F. (2004). Couples’ experiences of predictive testing and living with the risk or reality of Huntington disease: a qualitative study. American Journal of Medical Genetics, 126A, 170–182.  https://doi.org/10.1002/ajmg.a.20583.CrossRefPubMedGoogle Scholar
  24. Robins Wahlin, T.-B., Lundin, A., Bäckman, L., Almqvist, E., Haegermark, A., Winblad, B., et al. (1997). Reactions to predictive testing in Huntington disease: case reports of coping with a new genetic status. American Journal of Medical Genetics, 73, 356–365.CrossRefGoogle Scholar
  25. Tassicker, R. J. (2005). Psychodynamic theory and counseling in predictive testing for Huntington’s disease. Journal of Genetic Counseling, 14(2), 99–107.  https://doi.org/10.1007/s10897-005-4066-y.CrossRefPubMedGoogle Scholar
  26. The Huntington’s Disease Collaborative Research Group. (1993). A novel gene containing trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosome. Cell, 72, 971–983.CrossRefGoogle Scholar
  27. Tibben, A., Timman, R., Bannink, E. C., & Duivenvoorden, H. J. (1997). Three-year follow-up after presymptomatic testing for Huntington’s disease in tested individuals and partners. Health Psychology, 16(1), 20–35.CrossRefPubMedGoogle Scholar
  28. Timman, R., Roos, R., Maat-Kievit, A., & Tibben, A. (2004). Adverse effects of predictive testing for Huntington disease underestimated: long-term effects 7-10 years after the test. Health Psychology, 23(2), 189–197.  https://doi.org/10.1037/0278-6133.23.2.189.CrossRefPubMedGoogle Scholar
  29. Valverde, K. D. (2006). Why me? Why not me? Journal of Genetic Counseling, 15(6), 461–463.  https://doi.org/10.1007/s10897-006-9055-2.CrossRefPubMedGoogle Scholar
  30. Wiggins, S., Whyte, P., Huggins, M., Adam, S., Theilmann, J., Bloch, M., Sheps, S. B., Schechter, M. T., & Hayden, M. R. (1992). The psychological consequences of predictive testing for Huntington’s disease. New England Journal of Medicine, 327, 1401–1405.CrossRefPubMedGoogle Scholar
  31. Williams, J. K., Schutte, D. L., Evers, C., & Holkup, P. A. (2000). Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders. Research in Nursing & Health, 23, 260–269.CrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  1. 1.Department of Health Care SciencesErsta Sköndal Bräcke University CollegeStockholmSweden
  2. 2.Department of Immunology, Genetics and PathologyUppsala UniversityUppsalaSweden

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