Abstract
Background: Huntington’s disease (HD) is a chronic neurodegenerative condition caused by a genetic mutation. H D is incurable and affects a person’s cognitive,behavioural, emotional and motor functioning. Symptoms typically develop around 30- 45 years old with life expectancy approximately 15-20 years from onset. Children of an affected parent are at 50 per cent risk of inheriting the disease, and those individuals who inherit the abnormal gene will eventually be affected by HD. The H D gene was discovered in 1993 which resulted in a direct genetic test which could confirm the absence or presence of H D in at-risk individuals. There is a large amount of research into the psychological consequences of predictive testing, with more interest in those individuals who receive unfavourable test results. Less is known about those who receive favourable results and it is has been suggested that those individuals do not always experience uncomplicated relief.
Research Aim: The study aimed to explore how receiving a favourable result from predictive testing for H D can impact on close relationships in the long-term.
Methodology: A constructivist grounded theory approach was used to meet the aim of the study, generating data through in-depth interviews with 10 people who received favourable results from predictive testing for H D at least five years previously. The interviews were transcribed verbatim and analysed line-by-line using a series of coding procedures.
Findings: The findings suggest that when people find out they are at risk of H D they face a journey into the unknown and have to try to manage the uncertainty related to living at risk. Making the decision to be tested ends this uncertainty and once people receive a favourable result from predictive testing for HD, they go through a process of trying to distance themselves from HD. Those who have close family members (siblings in particular) with H D or who are at risk of H D can find this process more challenging.Having a sense of duty to family members with H D explains some of the difficulties faced by the participants.
Conclusions: The findings of this study could help raise awareness of the long-term issues and support needs affecting individuals who receive favourable results from genetic testing. Implications of the findings for clinical practice are discussed, and recommendations for research are made.
