Abstract
A growing number of young people (YP) are requesting predictive testing (PT) for Huntington's disease (HD), yet there is little research in this area. The aim of this study was to explore YP's experiences of PT for HD, the impact of their result and any gaps in information or support. In-depth interviews were conducted with YP who sought PT for HD from nationally funded Genetics Services. Participants were recruited through the Grampian Genetics Service or Scottish Huntington's Association. Twelve female participants aged 17-26 years were recruited (seven below 20 years). Pre- and post-test interviews were conducted where possible. A qualitative thematic analysis suggests three main testing experiences, regardless of test result. Testing may be: (i) a journey of empowerment, (ii) an ambivalent process or (iii) a poor experience. In pre-test counselling, gaps in emotional support were highlighted. The post-test period was particularly difficult if there were unanticipated changes in family dynamics or an individual's result contradicted what they expected 'deep down'. YP's experiences of PT for HD are generally similar to those of adults, but testing may help or interfere with key issues related to this age and stage. Implications for clinical practice are outlined.
Highlights
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder with onset classically between 35 and 55 years [1]
Whilst young people (YP)’s experiences of predictive testing (PT) for HD are generally similar to those of adults, testing helped or interfered with key issues related to this age and stage, e.g. establishment of personal identity, separation from parents and the development of peer/intimate relationships
Most YP felt that the pre-test period was too long but those who had clear and engaging information about the PT protocol and the likely number and interval between appointments coped better
Summary
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder with onset classically between 35 and 55 years [1]. Movement disorder, personality and behavioural changes [1]. Life expectancy is approximately 15–20 years from the onset. There remains no cure but there are guidelines for Standards of Care [2]. Children of an affected or a gene-positive parent have a 50% risk of inheriting the mutation and developing the illness in later life
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