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

  • Original Research
  • Published:
Journal of Genetic Counseling

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.

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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.

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Authors and Affiliations

  1. Department of Health Care Sciences, Ersta Sköndal Bräcke University College, Box 11189, SE-100 61, Stockholm, Sweden

    Elisabeth Winnberg, Ulrika Winnberg & Lilian Pohlkamp

  2. Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden

    Anette Hagberg

Authors
  1. Elisabeth Winnberg
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  2. Ulrika Winnberg
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  3. Lilian Pohlkamp
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  4. Anette Hagberg
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Correspondence to Elisabeth Winnberg.

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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.

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

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Winnberg, E., Winnberg, U., Pohlkamp, L. et al. What to Do with a Second Chance in Life? Long-Term Experiences of Non-carriers of Huntington’s Disease. J Genet Counsel 27, 1438–1446 (2018). https://doi.org/10.1007/s10897-018-0257-1

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  • DOI: https://doi.org/10.1007/s10897-018-0257-1

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