Abstracts

Rationale: Epilepsy secondary to a genetic variant is not isolated to specific populations—though the rate of neurogenetic referral across demographic groups remains unclear. Referral to neurogenetics clinic or research that is demographically consistent with a community is essential in ensuring equitable access to genetic diagnosis and care. It has been suggested that referral pathways to neurogenetics may fail to represent the diversity of a given community. At present, neurogenetic referral is largely a manual process facilitated by neurology providers. The extent to which this process provides a methodical and inclusive pathway, ensuring referrals are representative of a community, has yet to be elucidated.


Methods: Data were gathered from electronic health records (EHR) and a secure research database (REDcap) within the Neurology Division, epilepsy genetics specialty clinic (ENGIN), and Epilepsy Genetics Research cohort (EGRP) at a large pediatric multi-center care network in Philadelphia between 1 September 2015 and 8 April 2024. Individuals were analyzed to understand referral pathways within the Neurology Division. Pathways to ENGIN and EGRP were reviewed and assessed across demographic factors including self-reported race, ethnicity, and social vulnerability index (SVI).

Results: Referral structure of 22,127 individuals across over 135,000 patient encounters were reviewed. Individuals self-reported as White were more likely to be referred to EGRP and/or ENGIN than others in the broader Neurology cohort (odds ratio [OR] 1.09, 95% CI 1.03-1.16, p< 0.01). The same is true for those whose racial background was unknown/unspecified (OR 1.20, 95% CI 1.11-1.30, p< 0.01). Individuals self-reported as Black were less likely to be referred than the broader neurology cohort (OR 0.72, 95% CI 0.66-0.77,