Work

Socioeconomic and clinical factors associated with genetic testing completion in Stargardt disease

Year: 2026

Type: article

Abstract: Purpose Genetic testing (GT) is crucial to Stargardt disease diagnosis and clinical trial (CT) eligibility, yet predictors of GT completion remain understudied. We identified factors associated with GT completion and characterized CT participation among genetically confirmed patients. Materials and Methods We retrospectively reviewed 280 patients with clinically diagnosed Stargardt disease evaluated at a U.S. tertiary referral center (2003-2024). Multivariable logistic regression identified predictors of GT completion. Results Among 280 participants, 246 (88%) completed GT. GT completion was significantly less likely in participants who were Black [odds ratio (OR): 0.40 (95% confidence interval [CI]: 0.16-0.98)], under/uninsured [OR 0.47 (95% CI 0.19-0.97)], without genetic counseling (GC) [OR 0.09 (95% CI 0.03-0.22)], or without reproductive plans [OR 0.35 (95% CI 0.14-0.89)]. Clinical factors (age of onset, visual acuity, family history) showed no significant associations. Common reasons for non-completion included loss to follow-up (41%), patient refusal (26%), and awaiting GC (24%). Among 223 ABCA4- positive participants, 45 (20%) enrolled in CTs with most (91%) completing GC. Conclusions Despite high overall GT completion rates, significant racial and socioeconomic disparities exist. GC emerged as the strongest modifiable factor, conferring over 10-fold higher odds of GT completion. Socioeconomic barriers, rather than disease severity or clinical characteristics, drive testing disparities in Stargardt disease.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2026.104481