Analyzing the Impact of Racial and Ethnic Background on Timeline of Receiving a Confirmatory Genetic Test in Children...

BackgroundEpilepsy is a common childhood disorder and significant advances in its management have emerged in the past decade with the integration of genetic evaluation and testing. However, health care disparities can pose significant challenges, often leading to missed opportunities for effective management. Addressing these disparities is crucial for improving outcomes and ensuring better care for all patients.ObjectiveThis study aims to determine the rate at which individuals diagnosed with epilepsy receive a genetic diagnosis. In addition, we aim to examine the ethnic distribution of individuals diagnosed with epilepsy who undergo genetic testing and compare this to the ethnic composition of the general population of children in Rhode Island and to assess the time it takes for individuals from different ethnic backgrounds to complete genetic testing after being seen in a genetics clinic, regardless of potential extenuating circumstances.MethodsThis study is a retrospective analysis of 231 individuals diagnosed with epilepsy between 0 and 18 years of age who were evaluated by the genetics department at a tertiary care facility in Rhode Island between 2015 and 2020 to consider a genetic workup for seizures. Cohort clinical characteristics related to their diagnosis of seizures was collected, including genetic workup. Self-identified race, ethnicity, and ancestry was also collected. Interrogation of the differences in multiple factors were analyzed including diagnostic yield, comparison of breakdown self-identified race, ethnicity, and ancestry with the general population and generalized linear mixed effects modeling using 4 time periods (seizure onset, initial genetic evaluation, initial genetic test, and subsequent genetic test).ResultsDiagnostic yield overall for genetic diagnosis for those with seizures was 30%. Our cohort make-up of the race, ethnicity, and ancestry ancestral groups that were available (White, Black, and Latine) were comparable to US Census data for children living in Rhode Island. With the linear mixed effects modeling, those of Latine ancestry overall completed genetic workup in a shorter turnaround time than White and Black groups.ConclusionsOverall, our diagnostic yield is comparable to those cited in other studies. It is encouraging that the ratio of children evaluated in the tertiary care genetics clinic is similar to the general population breakdown of the state. The shorter turnaround trend for the Latine group and longer turnaround time with the Black group shows evidence that there are differences in management that need to be investigated further in order to provide equitable care and improve outcomes for all.