Psychological reactions to predictive genetic testing for Huntington’s disease: A qualitative study

• Published in: Journal of genetic counseling 2020-12, Vol.29 (6), p.1093-1105
• Main Authors: Tillerås, Kristine H., Kjoelaas, Siri H., Dramstad, Elisabeth, Feragen, Kristin B., Lippe, Charlotte
• Format: Article
• Language: English
• Subjects: Adaptation, Psychological; Adult; Coping; Emotions; Female; genetic counseling; Genetic screening; Genetic Testing; Humans; Huntington Disease - diagnosis; Huntington Disease - genetics; Huntington Disease - psychology; Huntington's disease; Huntingtons disease; Male; Middle Aged; Mutation; predictive genetic testing; psychological reactions; psychosocial; Qualitative Research
• ISSN: 1059-7700; 1573-3599
• DOI: 10.1002/jgc4.1245

There is a lack of qualitative research investigating the experience of individuals at risk for Huntington's disease (HD) during the period prior to undergoing predictive testing, as well as their reaction to the test result. This secondary analysis study aimed to explore the experiences during the predictive testing process of individuals who had been or who were at risk for HD. For the primary study, in‐depth semi‐structured interviews were conducted, and data were analyzed using inductive thematic analysis. We employed the explorative qualitative design for this study, which involved 33 individuals who had been or who were at risk for HD. Results indicate that many had been anticipating the onset of the disease even before they knew their mutation status. Their choice of whether to get tested or not was influenced by personal, social, and practical factors. Whether the test result was positive or negative, coping with the test result was reported to be difficult. Participants with a mutation‐negative result felt a need for more follow‐up consultations than what they had received. Findings indicate that the decision to undergo predictive testing for HD was not only a personal choice, but was also influenced by both proximal and distant factors. Similar to individuals who tested positive for the mutation, individuals who tested negative for the mutation may need comprehensive follow‐up to adapt to the reality of the test result.