Factors Affecting Latency to Genetic Testing in Pediatric Epilepsies
AUTHORS
Julie Ziobro, MD/PhD; John Schreiber, MD; Nadee Dayananda, MBBS, MSc; Sonal Bhatia, MBBS, MD; Cynthia Keator, MD; Senyene E. Hunter, MD, PhD; Anthony Fine, MD; Katherine Xiong, MD; Debopam Samanta, MD; Cemal Karakas, MD; Julie Sturza, MPH; Jason Coryell, MD
ABSTRACT
Rationale: Next-generation sequencing and collaborative efforts of multiple research groups have led to a rapid increase in the identification of causative pathogenic genes in pediatric epilepsies. A genetic diagnosis may alter the therapeutic course, redirect care goals, or end the diagnostic odyssey. However, clinical and demographic factors, including healthcare disparities in accessing genetic testing, may lead to extended latency in testing following seizure diagnosis and, consequently, in the underlying genetic diagnosis of epilepsy. While significant healthcare disparities in genetic testing for various cancers are known, the role of clinicodemographic factors and equitable access to genetic testing for epilepsy has not been systematically explored. Thus, our study aimed to examine various clinical and sociodemographic factors related to latency in genetic testing following seizure onset.
Methods: The Pediatric Epilepsy Research Consortium (PERC) epilepsy genetics special interest group developed a multi-center, prospective database in 2021 to capture clinically relevant data from pediatric patients with epilepsy who have undergone genetic testing. The database aims to capture clinical and demographic data, in addition to specific genetic variants, medications, and seizure characteristics. At the time of this analysis, 7 centers had contributed data. Statistical analysis was performed with SAS software.
Results: At the time of our analysis, the PERC epilepsy genetics database included 323 patients. Latency to first genetic test from seizure onset was 69.0 months (IQR 15.9-102), among 221 patients with this data entered. Of patients who received a diagnostic test (n=90), latency to testing was 54.2 months (IQR 9.7-79). Decreased latency to first test was significantly correlated with earlier age of seizure onset (< 0.0001), the presence of infantile spasms (< 0.0001), and the presence of developmental delay (DD) or intellectual disability (ID) (p=0.0001). Among our cohort, there was no significant correlation in latency to genetic testing with race, distance to medical center, language, or zip code.