Abstract

Objective: Pre-symptomatic genetic testing (PST) allows at-risk individuals to confirm whether they have inherited the disease-causing mutation. However, little is known about the experience of those who support consultands through testing. Using Huntington disease (HD) as a model of inherited adult-onset conditions, we have explored the experience of individuals who support consultands through the testing process.
Methods: Telephone interviews were conducted with 14 consultands who undertook PST for HD. Inductive analysis identified support persons’ role, experience, needs and follow up as important to consumers. Subsequent online surveys were piloted with 35 consultands and 18 support persons who had undertaken PST.
Results: Our findings demonstrate that consultands’ and support persons’ experience of PST was mostly positive. Most consultands appreciated the support a significant other was able to provide, and support persons felt they had an important role to play. However, support persons often felt ill-equipped for the role, and some were unprepared for the distress they experienced.