P3.156: Exploring Healthcare Disparities in Latency to Genetic Testing for Pediatric Epilepsy Patients

Background: Epilepsy is a common neurological condition among children, impacting 456,000 of children nationally. Genetic testing has become an integral part of clinical care with the potential to identify epilepsy etiology and allow for targeted treatment. Changes in clinical management have been reported in almost 50% of patients following a discovery of a genetic diagnosis. A delay in genetic testing can significantly impact the clinical course and lead to inappropriate treatment. Healthcare disparities may be one of the many causes that lead to delayed genetic testing. While there is increased understanding of the impact of healthcare disparities in many pediatric diseases, little is known of inequities in access to genetic testing for children with epilepsy. In this study, we systematically explored various sociodemographic factors related to latency in genetic testing following seizure onset.

Methods: The Pediatric Epilepsy Research Consortium (PERC) Genetics Special Interest Group has developed a multi-center, prospective database of pediatric patients with epilepsy who have undergone genetic testing. The goal in its development was to allow clinicians to collaborate in identification and best care practices for rare genetic epilepsies. The database also includes clinical and demographic information, including age of seizure onset and genetic testing. The database continues to grow, with 10 centers from across the U.S. contributing at the time of analysis. Statistical analysis was performed using Prism 10 software.

Results: At the time of analysis, the PERC epilepsy genetics database included 507 patients. Of these patients, 374 had the necessary data for our study. Decreased latency to the first genetic test was significantly associated with younger age of seizure onset (p=0.0002). On initial analysis, there was no significant difference in latency based on race, preferred language, family income, location, or insurance type. Further analyses are ongoing.

Conclusion: Recent advancements in genetic testing have significantly impacted the care of children with epilepsy, from diagnosis to treatment. Our initial evaluation did not reveal any significant difference in latency to genetic testing with regards to race, preferred language, family income, distance to center, or insurance type. Age of onset was significantly correlated with latency to genetic testing. Further increasing PERC database enrollment to represent the sociodemographic diversity of children with epilepsy will increase the power and generalizability of our findings. A greater understanding of the disparities that exist in genetic testing will inform the promotion of equitable access to this important diagnostic tool for children with epilepsy.