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

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.

The ethical implications of genetic testing in neurodegenerative diseases: A systematic review

“…The ethical implications of genetic testing individual when offering genetic testing for a genetic condition (18). Genetic counselling was seen as a prerequisite for the individual to ensure informed decisionmaking on whether to take the test or not (18,(31)(32)(33). It was seen as important that genetic counsellors helped the individual who was considering undergoing genetic testing and their family to find a satisfactory solution to help prevent adverse reactions.…”

“…It was seen as important that genetic counsellors helped the individual who was considering undergoing genetic testing and their family to find a satisfactory solution to help prevent adverse reactions. This included that the candidate and his or her family was well-informed about the testing options, alternatives, risks and benefits of the testing, results options and possible consequences to her/ himself, but also to his or her family (18,32). It was considered important that family members at risk also had an opportunity to discuss the implications of their family member's testing if the candidate gave permission for the discussion (18).…”

“…The impact of a negative test result: from relief and gratitude to guilt. The conflicting emotions related to knowing one's gene-negative status were identified, and results showed that negative results of the genetic test did not always lead to uncomplicated happiness (19,23,27,32). The feeling of relief and gratitude for not carrying the mutation was described (19,32).…”

“…The conflicting emotions related to knowing one's gene-negative status were identified, and results showed that negative results of the genetic test did not always lead to uncomplicated happiness (19,23,27,32). The feeling of relief and gratitude for not carrying the mutation was described (19,32). The relief from anxiety was mentioned as the major and lasting benefit of the negative test results, which also became a motivator for making positive changes in life such as having children, investment in education, career development, taking care of one's health and improved relations with one's partner (32).…”

“…The feeling of relief and gratitude for not carrying the mutation was described (19,32). The relief from anxiety was mentioned as the major and lasting benefit of the negative test results, which also became a motivator for making positive changes in life such as having children, investment in education, career development, taking care of one's health and improved relations with one's partner (32). However, some individuals who tested negative described feelings of shock and disbelief upon learning that they do not have the faulty gene.…”