Genetic Testing for Epilepsy: A User Guide

About 30% of epilepsy cases have an underlying genetic etiology. Despite rapid progress with understanding the genetic underpinnings of epilepsy and with gene-specific treatments for epilepsy, many barriers for clinicians to send genetic testing remain. This review aims to provide clinicians with a practical approach to genetic testing for epilepsy.

Incorporation of genetic counselors into neurology practices is a useful model for supporting providers to implement proper recommendations. Selecting the appropriate genetic test for epilepsy involves prioritizing patients’ informed consent and evaluating diagnostic yield, cost-effectiveness, and turnaround time following certain algorithms, with exome/genome sequencing as first-tier options, and multigene epilepsy panel as a more accessible alternate for resource-limited situations. Result interpretation should be conducted on a case-by-case basis, and should include interpretation of the results, changes in clinical management, inheritance risks, testing of family members, and discussion of additional testing if needed.

We provide a comparative assessment of the yield of genetic tests for epilepsy, with possible test outcomes and practical considerations for the clinical decision-making process. Continued research and integration of cutting-edge approaches will expand our understanding of genetics in epilepsy and improve clinical outcomes for individuals with epilepsy.