Priya Monrad
Pediatric Epileptologist, USA
Title: Whole genome/exome sequencing in pediatric epilepsy: Are there real clinical benefits?
Biography
Biography: Priya Monrad
Abstract
Whole Exome Sequencing (WES) is becoming increasingly recognized as a valuable diagnostic tool in pediatric neurological disorders and pediatric epilepsy, but insurance or access to specialist testing remain major barriers in its widespread implementation. Currently it is primarily performed after standard workups have failed to provide a unifying diagnosis. Studies have demonstrated the cost-effectiveness and sensitivity of WES as a diagnostic modality, but a major remaining question for clinicians is whether WES results affect daily clinical decision-making about patient care in pediatric epilepsy. We will review the existing evidence for the use of WES in pediatric epilepsy, discuss case studies where WES is used in pediatric epilepsy patients in our personal practice and will discuss whether WES could become a useful clinical tool for changing management of pediatric epilepsy patients.