Abstracts

Rationale: Genetic testing modalities for epilepsy are rapidly evolving and patient perspectives on alternative types of genetic tests are currently unknown. Understanding of genetic testing preferences and the factors associated with them is essential to provide services likely to be utilized by patients. We examined preferences of individuals with epilepsy and their unaffected family members for 3 types of tests: single gene tests, multiple gene tests (panels), and whole genome/exome sequencing.Methods: We are currently carrying out a survey of previous participants in genetic research on the epilepsies to assess the psychosocial impact of having epilepsy themselves or in their families, beliefs about epilepsy genetics, and interest in genetic testing. The survey will target more than 1,000 adults who are members of 115 families containing multiple individuals with epilepsy (average 4 affected per family). Among 164 participants contacted so far, 144 (88%) have agreed to participate. Here we report preliminary results on 80 individuals (28 with epilepsy, 52 unaffected relatives) who completed the survey as of June 2013. The survey briefly introduced 3 different types of tests: those that look for mutations (changes) in a single gene associated with a disease, look for mutations (changes) in many genes that are associated with a disease, or look for mutations (changes) across the whole genome, providing information about every gene and possibly many medical conditions. For each testing type, participants were asked whether they would want testing if given the opportunity. We assessed responses overall and in relation to epilepsy history, age, sex, education, religion (Catholic, Protestant, Jewish, other), religiosity (How religious do you consider yourself to be?), and causal attribution of epilepsy in the family to genetics.Results: For a single gene test, 57% of participants said they would want testing, 15% said they would not, and 28% said don t know. Response patterns were similar for all 3 testing types (% who would want testing: many genes 59%, every gene 54%). Individuals were less likely to want testing if they identified as deeply or fairly religious than if they did not (single gene test: 42% vs. 77%, p=.008), and more likely to want testing if they reported a medium or big role of genetics in causing epilepsy in their family than if they did not (single gene test: 66% vs. 41%, p=.09). Although differences were not significant with the current sample size, the proportion who said they would want testing was greater for participants with vs. without epilepsy (single gene test: 66% vs. 53%), women vs. men (64% vs. 49%), and aged <50 vs. 50 years (66% vs. 48%).Conclusions: Stated preferences for genetic testing are very similar across the 3 testing modalities we examined, although limited explanation was provided about their potential advantages and disadvantages. Religiosity and the extent of causal attribution of epilepsy to genetics may impact testing preferences. This research was supported by R01 NS078419.