Badania genetyczne epilepsji u dzieci: jak skutecznie rekrutować pacjentów reprezentujących całą populację chorych

INTRODUCTION: Enrolling cohorts that are representative of affected populations remains a challenge in neurogenetic research. However, few studies describe reproducible recruitment approaches for achieving representative cohorts. We aimed to recruit a representative cohort of pediatric patients with epilepsy who had not previously received conclusive sequencing results for research genetic sequencing. METHODS: Patients with epilepsy referred for research genetic sequencing within a single healthcare system (2021-2023) were enrolled. Recruitment and engagement strategies were guided by the National Institute on Minority Health and Health Disparities Research Framework and addressed provider-reported barriers to research participation (e.g., language proficiency, transportation, healthcare access). We directly evaluated differential enrollment across relevant demographic and socioeconomic characteristics. We compared the enrolled cohort with the institutional child neurology epilepsy population. We also compared the enrolled cohort with North Carolina's statewide population estimates to aid in the interpretation of findings. RESULTS: Of 156 eligible patients, 95 (61%) enrolled. We found no statistically significant differences in measured characteristics between enrolled and non-enrolled eligible patients. The study cohort did not differ from the institutional population with respect to insurance status (p=.781), preferred language (p=.865), race (p=.548), or rurality (p=.689). Compared with statewide population estimates, there were no significant differences in preferred language (p=.362), race (p=.173), ethnicity (p=.907), or rurality (p=.212), although the cohort included a higher proportion of publicly insured participants and fewer uninsured participants (2% vs. 10.4%; p<.001). Hispanic/Latino representation was lower than the institutional population (10.5% vs. 19.0%; p=.041) but comparable to the statewide population (10.9%; p=.907). Over half of enrolled participants (54%) resided in counties with high economic distress. Among individuals who declined participation, travel or distance was the most frequently reported barrier (13/45, 29%). CONCLUSION: We used a framework-guided, provider-engaged recruitment approach to enroll a cohort of pediatric epilepsy patients prioritized for genetic sequencing whose sociodemographic characteristics appear to reflect the institutional and statewide populations across most measured domains. Measured characteristics were not found to be associated with study enrollment. Findings provide supportive evidence for implementing and evaluating similar recruitment approaches that may improve representativeness and reduce selection bias in neurogenetic and neurological research.