Improving Access and Reducing Latency in Genetic Testing for Epilepsy: Julie Ziobro, MD, PhD; John Schreiber, MD

WATCH TIME: 6 minutes

“Reducing latency to genetic testing is critical… This is not just about healthcare; it’s about equity. All patients, regardless of where they live, deserve access to the same level of care.”

Recent advancements in genetic testing technologies, particularly next-generation sequencing (NGS), have significantly improved the ability to identify genetic causes of pediatric epilepsy. At the recently concluded 2024 American Epilepsy Society Annual Meeting, held December 6-10, in Los Angeles, 2 studies utilizing data from the Pediatric Epilepsy Research Consortium (PERC) database highlighted key insights into genetic testing, including diagnostic latency, access disparities, and its implications for drug-resistant epilepsy (DRE).^1,2

The first study, conducted by lead author Julie Ziobro, MD, PhD, analyzed data from 323 pediatric patients to evaluate the latency between seizure onset and genetic testing.¹ The median latency was 69 months, with shorter delays observed in patients presenting with early seizure onset, infantile spasms, and developmental delay/intellectual disability (DD/ID). Notably, the study found no significant disparities in testing latency based on race, language, or socioeconomic status, suggesting relatively equitable access in this cohort. These findings highlighted the need for increased awareness and earlier intervention to reduce delays and optimize diagnostic and treatment pathways.

The second study, presented by John Schreiber, MD, examined the genetic and clinical profiles of pediatric patients with DRE.² Among 288 patients with pathogenic or likely pathogenic variants, those with DRE had earlier seizure onset, a higher prevalence of DD/ID and autism, and longer epilepsy duration compared to those without DRE. Although the gene panels and whole exome sequencing yielded similar diagnostic rates for DRE, the study emphasized a persistent gap between genetic findings and their integration into clinical decision-making, including treatment planning and prognostication.

In an interview with NeurologyLive® at AES 2024, Schreiber, the director of epilepsy genetics at Children’s National Hospital, and Ziobro, the assistant professor of pediatrics at the University of Michigan, emphasized the need for improved neurologist education and clinical support to increase comfort with ordering genetic tests. The duo also highlighted the shortage of genetic counselors and called for better integration of these professionals to assist both neurologists and patients. Additionally, the experts discussed strategies to reduce variability in genetic testing access, including standardized protocols and improved insurance coverage to ensure equitable care across institutions and regions.

Click here for more AES 2024 coverage.

REFERENCES
1. Ziobro J, Schreiber J, Dayananda N, et al. Factors Affecting Latency to Genetic Testing in Pediatric Epilepsies. Presented at: AES 2024; December 6-10; Los Angeles, CA. Abstract 1.311
2. Schreiber J, Ziobro J, Dayananda N, et al. Factors Associated with Drug-resistant Epilepsy in Patients with Pediatric-onset Genetic Epilepsy. Presented at: AES 2024; December 6-10; Los Angeles, CA. Abstract 1.347