Time to genetic testing in Dravet syndrome: Trends, barriers, and opportunities for improvement.

Objective: Genetic testing can be necessary in the early diagnosis or confirmation of Dravet syndrome (DS). Despite major advances in availability of genetic testing, several barriers to timely testing persist. These include clinician recognition of the disease in its early stages and health disparities. Early diagnosis of DS has a growing list of management implications, including antiseizure medication selection, appropriate counseling regarding prognosis, access to resources, and clinical trial access.

Methods: To understand the barriers to early genetic testing in DS, we performed a retrospective chart review of patients with DS due to SCN1A variants and analyzed factors hypothesized to affect time to testing. Factors including the initial clinical presentation and health disparities were correlated with length of time to testing from the first documented seizure.

Results: Factors significantly correlated with time to testing included absence of early status epilepticus and the need for an English-language interpreter. Interestingly, neither race/ethnicity nor a composite social deprivation index were significantly correlated with delays in genetic testing in our population.

Significance: We identified significant factors associated with delay to genetic testing in DS. Purposefully addressing these factors through education and resources will likely be important for continued improvement in early and equitable diagnosis for patients with DS.