Objective:

This study aimed to explore the motivations, barriers, and emotional experiences influencing at-risk relatives of patients with genetic Creutzfeldt-Jakob Disease (gCJD) in their decisions regarding presymptomatic genetic testing. 

Background:

Genetic testing for pathogenic gCJD mutations poses personal and psychological challenges for at-risk individuals. While interest in testing is growing, little is known about the motivations, decision-making, and emotional responses of asymptomatic relatives.

Design/Methods:

An anonymous, web-based survey was conducted among individuals with a family history of gCJD. It assessed demographics, relationship to the affected relative, testing status, and motivations, barriers, and emotional experiences related to testing.

Results:

Of 70 respondents, 19 (27%) had undergone presymptomatic testing. Testing was more common among non-religious individuals than those identifying as religious or traditional (p = 0.049). No associations were found with education, marital status, parenthood, or emotional closeness to the affected relative. Key motivations included reproductive planning, desire for certainty, and research participation. Psychological burden and doubts about utility were common barriers. Most tested individuals expected a negative result, yet over half were found to carry the mutation. Despite distress during the waiting period and variable responses to positive results, nearly all would choose to be tested again.

Conclusions:

Presymptomatic testing for gCJD is influenced by religious identity and individual coping preferences. Findings underscore the importance of personalized counseling and further research on long-term psychological outcomes.