2025 Theses Master's

Who Has Access? A Retrospective Analysis of Social Determinants of Health and Genetic Testing Uptake in Pediatric Unexplained Epilepsy

Huang, Christine; Diaz Caro, Daniela; Mulhern, Maureen S.; Wetmore, John

The National Society of Genetic Counselors practice guideline recommends genetic testing for all individuals with unexplained epilepsy. Patients’ demographics, social determinants of health (SDOH), and clinical characteristics may impact access to genetic services. Our study examines the clinical genetic testing pathway and whether patient characteristics impacted access to guideline-recommended genetic testing among pediatric patients with unexplained epilepsy at an urban academic medical center.

We conducted a retrospective chart review of 220 pediatric patients (<18-year-old) with unexplained epilepsy, selected using stratified random sampling of 1,360 patients. Participants’ demographics (age at chart review, sex at birth), SDOHs (race/ethnicity, preferred language, insurance type), and clinical characteristics (comorbidities, age of epilepsy onset, and ordering provider) were collected. Multivariate logistic and linear regression models assessed associations between patient characteristics and outcomes along the genetic testing pathway: referral, completion, and time to testing completion. 

Overall, 149/220 patients were referred to genetics, 104/220 patients attended a genetics appointment, and 90/220 patients completed genetic testing. Public insurance was associated with 64% lower odds of genetics referral (aOR=0.36, 95% CI:0.16-0.77, p=0.01). Older age at chart review was associated with 13% lower odds of genetic testing completion (aOR=0.87, 95% CI:0.80-0.95, p<0.001). Female patients had 54% lower odds of genetic testing completion (aOR=0.46, 95% CI:0.25-0.88, p=0.02). Patients with comorbidities experienced an average of 180 days longer to testing completion (272.24±49.57, Beta=180.01, Intercept=91.08, p<0.001).

This study demonstrated that disparities exist across multiple stages in the genetic testing pathway. Targeted strategies should be implemented to improve equitable access to genetics evaluation for patients.

Keywords: Unexplained epilepsy; genetic testing; genetic referrals; social determinants of health; disparities