Abstract Details

Title Perspectives on Presymptomatic Genetic Testing in Families Affected by Genetic Creutzfeldt-Jakob Disease: A Survey-based Study

Topic Aging, Dementia, and Behavioral Neurology

Presentation(s) P11 - Poster Session 11 (11:45 AM-12:45 PM)

Poster/Presentation
Number 12-009

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.

Authors/Disclosures
Nurit Omer, MD PRESENTER	Dr. Omer has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Ionis pharmaceutical. Dr. Omer has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Teva .
Noa Bregman	Noa Bregman has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Medison. The institution of Noa Bregman has received research support from Ionis pharmaceuticals.
Tamara Shiner	Tamara Shiner has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eli lilly. Tamara Shiner has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eisai. Tamara Shiner has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Eisai. Tamara Shiner has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Eisai. The institution of Tamara Shiner has received research support from MJFF.
Dror Shir, MD (Mayo Clinic)	Dr. Shir has nothing to disclose.

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