Genomic Diagnosis and Treatment Impact in Epilepsy: Insights from Rapid Whole Genome Sequencing

INTRODUCTION
• Genetic factors play an impactful role in the etiology of many seizure disorders and epilepsies, with over 1500 related genes identified.
• Rapid whole genome sequencing (rWGS) offers genome-wide analysis of many types of genetic variants in just a few days and is increasingly employed in the diagnostic evaluation of epilepsy. Results can inform clinical management, including the implementation of targeted therapies.
• The National Society of Genetic Counselors and the American Epilepsy Society strongly recommend genome sequencing as first-tier testing for all individuals with unexplained epilepsy.
• This study presents a clinical cohort of patients with seizures and/or epilepsy to demonstrate the clinical utility of rWGS in guiding treatment decisions.