AES 2023 | When should genetic testing be performed in epilepsy?

Kristen Park, MD, Children’s Hospital Colorado & University of Colorado School of Medicine, Aurora, CO, shares her thoughts on who should receive genetic testing for epilepsy and how opinions on this have changed over the years. As more and more genetic causes of epilepsy have come to light, the diagnostic yield of genetic testing in epilepsy has grown. Additionally, higher testing capacity and faster turnaround times have been facilitated by technological advances, making genetic testing more accessible. Dr Park now believes that almost all patients with epilepsy should receive genetic testing, unless there is a clear explanation for their seizures. Studies have highlighted the importance of a genetic diagnosis, revealing that it impacts management in a high proportion of cases. Dr Park mentions programs that help children to receive genetic testing where financial limitations present a barrier. This interview took place during the American Epilepsy Society (AES) 2023 Annual Meeting congress in Orlando, FL.

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