Associations between sociodemographic factors and neighborhood opportunity with genetic service utilization in pediatric patients with neurofibromatosis type 1

Objective: Neurofibromatosis Type 1 (NF1) is a neurocutaneous disorder caused by a variant in the NF1 gene. The condition can be diagnosed through endorsement of core clinical features; however, recent diagnostic criterion was modified to include the molecular confirmation of the NF1 gene. While recent studies reveal health disparities in NF1 disease surveillance, the relationships between sociodemographic and neighborhood-level factors with genetic testing among patients with NF1 remain unknown, despite its clinical utility in the early detection of NF1 and in the provision of essential prognostic information. Methods: This study includes a retrospective medical chart review for 86 pediatric patients with a diagnosis of NF1 who underwent a neuropsychological evaluation at an academic medical center. The relationship between NF1 clinical severity, neuropsychological functioning (intellectual quotient, day-to-day executive function difficulties, and adaptive behaviors), sociodemographic variables (identified race/ethnicity, sex, insurance type, English primary language status), and neighborhood opportunity (nationally-normed Childhood Opportunity Index) with genetic test completion and age of testing were examined. Results: Sociodemographic and neighborhood-opportunity factors were not associated with genetic test completion; however, those who underwent testing presented with more executive functioning difficulties (Z = 2.14, p = .032). Among those who completed genetic assays, poorer neighborhood opportunity was associated with delayed genetic testing (r = −0.30, p = .049), which in turn moderately, but not significantly, correlated with greater day-to-day adaptive functioning challenges (r = 0.37, p = .06). Conclusions: Distinct social determinants of health impact genetic test completion vs. timeliness of the procedure, highlighting the complex pathways social and neighborhood factors serve as barriers in NF1 diagnostic process and subsequent medical management.