The personal utility of genetic testing in children with epilepsy

Genetic testing is increasingly utilized in the diagnosis and management of pediatric epilepsy, yet its personal impact on families remains underexplored. This study evaluated the personal utility of genetic testing based on caregiver-reported experiences. Caregivers of 127 patients who underwent multi-gene panel testing between 2013 and 2020 completed an online questionnaire assessing satisfaction, decisional regret, family planning, coping, emotional effects, and open-text feedback. Most participants reported high satisfaction with care (85%), no decisional regret (65%), and strong agreement that testing was the right decision (97%). Caregivers of children with a genetic diagnosis reported better coping and higher certainty compared to those without a diagnosis. Content analysis of participant feedback emphasized the need for more empathetic communication, clearer explanations of test result implications, more consistent follow-up, and improved access to support resources. These findings highlight the personal utility of genetic testing in pediatric epilepsy and underscore the importance of supporting families' diverse experiences throughout the diagnostic process.