Disparities in the utilization of genetic testing for non‐acquired infantile epileptic spasms syndrome in a single healthcare center in North Carolina
Authors: Marzouki Kenza El , Jenkins Bridley K. , Tsujimoto Tamy Moraes , Jiang Huijun , Cardwell Emma B. , Arhin Martin , Eyo Unwana , Gonzalez‐Rodriguez Cristian , Peck Stephanie , Lin Feng‐Chang , Hunter Senyene E. 
Published: February 2025

Objective

To investigate disparities in the utilization of genetic sequencing among children with Infantile Epileptic Spasms Syndrome (IESS), a severe early‐onset epilepsy where timely diagnosis and treatment are crucial for improving neurodevelopmental outcomes, previous studies have highlighted disparities in the evaluation and management of IESS. Genetic sequencing has emerged as a crucial tool in diagnosing unexplained epilepsies, offering precise etiological insights that can guide management. Despite guidelines recommending genetic sequencing for all unexplained epilepsies, little is known about how demographic and clinical factors influence the utilization of genetic sequencing in children with IESS.

Methods

Retrospective cross‐sectional cohort study, of 121 children diagnosed with IESS (2015–2020) within a single healthcare system. The primary outcome was the association between the utilization of genetic sequencing and demographic factors (race, ethnicity, language, rurality, and insurance status). Secondary outcomes included the utilization of genetic sequencing and its association with healthcare providers or clinical characteristics.

Results

Genetic sequencing was performed in 64% (n = 74) of the patients with IESS. Race was significantly associated with the utilization of genetic sequencing, with non‐Hispanic Black/African American children having significantly lower odds of undergoing genetic testing (OR = 0.19, 95% CI = 0.04–0.74, p = 0.02). No significant associations were found between language, rurality, or insurance status and the utilization of genetic sequencing. Notably, a low number of patients were from small towns and rural areas (7%). Clinical measures of seizure severity, including the presence of additional seizure types (p = 0.039) and the use of interventions in addition to standard IESS treatments (p = 0.01), were associated with higher rates of genetic sequencing.

Significance

Non‐Hispanic Black/African American children with IESS were less likely to undergo genetic sequencing. These findings underscore the need for evidence‐based solutions addressing genetic sequencing utilization that may disproportionately impact children with IESS from medically underserved groups.

Plain Language Summary

This study looked at how genetic testing is used in children with Infantile Epileptic Spasms Syndrome (IESS), a serious type of epilepsy. The results showed that Black/African American children were much less likely to receive genetic testing compared to children of other racial groups, even though this testing is important for diagnosing and treating IESS. The study also found that only 7% of children in the study came from small towns or rural areas, suggesting that children in these areas may not have the same access to healthcare. These findings show the need for more research to understand and address gaps in genetic testing for children with IESS.