Abstracts

Rationale: Use of genetic testing is increasing rapidly in the epilepsies, but few studies have focused on motivations and concerns related to the uptake of testing or the impacts of receiving results. We conducted qualitative interviews to examine these issues among individuals offered genetic testing for LGI1 in families with autosomal dominant epilepsy with auditory features (ADEAF). Methods: We previously surveyed affected and unaffected family members of families with ADEAF on their beliefs about epilepsy genetics, interest in genetic testing, and psychosocial status, and offered genetic testing for mutations in LGI1. We then conducted semi-structured qualitative interviews with individuals who either had genetic testing or declined genetic testing. The interview guide was developed to gather information on understanding, beliefs, and experiences regarding epilepsy genetics, causal attributions of epilepsy, reproductive concerns, psychosocial impacts of epilepsy, motivations for genetic testing decisions, and the impacts of receiving results. Results: As of June 7, 2016, we interviewed 22 individuals (17 affected, 5 unaffected), of whom nine received a positive result (8 affected, 1 unaffected), five received a negative result (4 affected, 1 unaffected), and eight declined testing (5 affected, 3 unaffected). Among affected individuals, 71% (12/17) identified genetics as the cause of their epilepsy. Those with a positive test result were more likely than others to attribute their epilepsy to genetics. 35% (6/17) of affected individuals reported epilepsy impacted their plans to have children. Among unaffected family members, 40% (2/5) identified genetics as the cause of epilepsy. A preliminary qualitative analysis led to the identification of the following three themes: (1) uptake of genetic testing is related to individuals' beliefs about the role of genetics in causing their epilepsy; (2) uptake of testing is impacted by values placed on the receipt of genetic information for reproductive planning; (3) causal attributions of epilepsy and reproductive concerns may influence the impacts of receiving genetic test results. Conclusions: Genetic causal attributions of epilepsy and interrelated reproductive beliefs and concerns may influence the uptake of genetic testing and the impacts of receiving results. Funding: This research was supported by R01 NS078419.