Abstracts

Rationale: Previous research has shown limited impacts of receiving genetic test results on health-related behaviors, but this has not been examined in epilepsy. We explored the behavioral impacts of receiving the results of LGI1 genetic testing among participants with and without epilepsy who were members of families with autosomal dominant epilepsy with auditory features (ADEAF).  Methods: Participants completed surveys asking about 18 health-related behaviors one-month ('how likely or unlikely is it that you will do the following over the next year?') and one-year ('have you done the following over the last year?') after testing. Responses were scored from 1 (very unlikely) to 5 (very likely). Using principal components analysis and reliability testing, items were clustered into three broad categories: personal health improvement (6 items, Cronbach's α=0.92), support-seeking (5 items, α=0.86), and communication about results (4 items, α=0.82). For each category, we created a scale as the mean of each participant's responses to the included items. We used linear models with generalized estimating equations to compare scores in participants with positive vs. negative results. Results: Forty-one people (27 with epilepsy, 14 without) from 15 families with ADEAF elected to be tested for mutations in LGI1.  All but one participant completed a survey either at one month (N=39), one year (n=36), or both (N=35).  For all three scales, scores were significantly correlated from the one-month (behavioral intentions) and one-year surveys (reported actual behaviors).  For personal health improvement, scores at one-year were significantly higher among participants with positive vs. negative test results (mean 3.5 vs. 2.6, p=.003); however, this difference was restricted to family members without epilepsy (i.e., those who received predictive testing) (Table).  Similarly, scores on the communication scale at one-year were significantly higher among participants with positive vs. negative results (4.0 vs. 3.2, p=0.018), and this difference was restricted to family members without epilepsy (Table).  Scores on the support-seeking scale were generally low (mean 2.4, corresponding to “unlikely”) and did not differ among people with positive vs. negative results overall.  Conclusions: In families with ADEAF, receiving a positive LGI1 test result was associated with increases in reported personal health improvement behaviors and communication about results among people without epilepsy (who received predictive testing), but not in those with epilepsy (who received diagnostic testing). Funding: Supported by NIH grants: R01NS078419, R01NSNS104076, and RM1HG007257.