The Role of Genetic Testing on the Management Pediatric Epilepsy

John Michael Schreiber, MD, provides an overview of epilepsy in infant and pediatric patients, including its prevalence, and describes the pathophysiology of infantile and pediatric epilepsy, highlighting how the disease’s heterogeneity affects diagnosis.

John Michael Schreiber, MD, provides an overview of genetic testing, detailing the different types, including whole genome sequencing (WGS), whole exome sequencing (WES), multigene panels, comparative genomic hybridization (CGH), and chromosome microarray (CMA).

John Michael Schreiber, MD, expands on the role of genetic testing in identifying and diagnosing epilepsy, discussing when it is clinically indicated and who should receive it, while also addressing key considerations for selecting tests for pediatric patients based on individual presentations and clinical factors, and outlining how to choose the best testing options while recognizing potential barriers and expectations for health care providers, caregivers, and patients before and after testing.

John Michael Schreiber, MD, describes the benefits of genetic testing for pediatric epilepsy diagnoses, noting the challenges associated with interpreting test results, and highlights key differences between genetic tests and their implications for clinical decisions, discussing how a genetic diagnosis can inform and guide epilepsy treatment.

John Michael Schreiber, MD, describes how he counsels and educates caregivers about the potential benefits and limitations of genetic testing, detailing his approach to educating them before testing, how he guides them in interpreting results and transitioning to clinical management afterward, and the role of genetic counseling, including when to refer to a genetic specialist; he also provides key takeaways on the role and value of genetic testing for pediatric epilepsy and discusses how providers should utilize next-generation sequencing (NGS) moving forward.