Background Predictive testing via direct mutational analysis for individuals at risk of Huntington’s disease (HD) has been available in many countries since 1993. Whilst a substantive literature exists on the impact of predictive testing, few studies have looked at how the predictive test counselling process is received by tested individuals.
Aims This evaluation study sought to ascertain the views of individuals who had a predictive test for HD over a 5 year period (2007–2012), and specifically to establish what was viewed as helpful or unhelpful about the process and any suggestions for improvement.
Methods A self-report questionnaire was designed for the purpose of the study, using both closed and open questions. Descriptive statistics were used to present the quantitative data and a thematic analysis was conduced on the free text comments.
Results 44 of 100 eligible individuals completed and returned their anonymised questionnaire. Overall, participants were positive about their experience. 41/44 (93%) rated their relationship with the genetic counsellor as ‘good’ or ‘very good’. 37/44 (84%) considered the number of appointments ‘about right’, However, 14/44 (32%) found the process too long and 5/44 (11%) commented on specific difficulties engaging with the process. Suggestions for improvement included a more tailored approach and access to additional information resources such as video clips of people discussing the pros and cons of predictive testing.
Conclusions This study highlighted the importance of the counselling relationship in predictive testing, and raises the issue of maximising existing flexibility within the process whilst retaining high standards of care.
- Predictive testing