Abstracts

Rationale: Use of genetic testing is increasing rapidly in the epilepsies, but few studies have assessed patient preferences or uptake of testing. We examined predictors of interest in pre-test genetic counseling regarding testing for mutations in LGI1 in families with autosomal dominant epilepsy with auditory features (ADEAF).Methods: We surveyed individuals from 20 families with ADEAF about their beliefs about epilepsy genetics, interest in genetic testing, and psychosocial variables, and offered genetic testing for mutations in LGI1 to those who were not married in to the families. Among 179 eligible individuals, 132 (74%) were reached by telephone to invite participation, 126 (95%) agreed to participate, and 90 (71%) completed the survey (54 with epilepsy, 36 unaffected biological relatives). To assess interest in genetic counseling, we asked: “If you are eligible, would you like to speak to a genetic counselor about the possibility of being tested? This would not put you under any obligation to receive a genetic test.” We assessed religiosity by asking individuals how “religious” they considered themselves to be, with response options: deeply religious, fairly religious, only slightly religious, not at all religious, against religion, and prefer not to say. We assessed spirituality with the same question, replacing “religious” with “spiritual.”Results: Overall, 66% of participants responded that they would be interested in speaking to a genetic counselor, whereas 24% responded “unsure at this time” and 10% responded “no.” Individuals with epilepsy were significantly more likely to respond “yes” than were their unaffected relatives (74% vs. 53%, Prevalence ratio [PR] =1.5, Confidence Interval [CI] = 1.09, 2.07). Individuals who responded they were “deeply” or “fairly” spiritual were significantly less likely than others to be interested in speaking to a genetic counselor (61% vs. 81%, PR=0.8, CI=0.62, 0.91). Religiosity showed a similar negative association with interest in speaking to a genetic counselor (deeply/fairly religious 57% vs. others 78%, PR=0.7, CI=0.53, 1.00).Interest in speaking to a genetic counselor was significantly associated with the perceived chance of having an epilepsy-related mutation (moderate/high 79% vs. none/small/don’t know 46%, PR=1.8, CI=1.26, 2.67). Among individuals with epilepsy, the proportion interested in genetic counseling was significantly higher in those who had seizures within the last year than in others (94% vs. 67%, PR=1.4, CI=1.11, 1.79) and in those who had >20 vs. fewer lifetime seizures (90% vs. 70%, PR=1.3, CI=1.06, 1.54).Conclusions: Religiosity and spirituality were significantly associated with decreased interest in pre-test genetic counseling regarding LGI1 mutations. However, the most significant predictors of interest in genetic counseling were the perceived chance of having an epilepsy related mutation and variables related to epilepsy severity (recency and number of lifetime seizures). This research was supported by R01 NS078419.