A75-09 Mind the Gap: Assessing Inequalities in Access to PCD Diagnostics
B Kinghorn, K Harman, N Rumman, M Goutaki, C Ardura-Garcia, N Baz-Redón, M A Chilvers, S D Davis, J De Brandt, S D Dell, R Dhar, L Dixon, T W Ferkol, C Hogg, M Legendre, M W Leigh, J Lucas, M Manion, I Toews, V Labonte, W B Wee, P Kouis, A Shoemark, A HoraniAbstract
Rationale
Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by progressive lung disease and bronchiectasis. Early diagnosis improves clinical outcomes; however, tests and technical expertise are often not available in resource-limited settings. The diagnostic capacity and its impact on clinical services in these settings remain unknown. We sought to assess access to PCD diagnostic tests across centers in geographically and resource-diverse settings and to identify barriers to diagnosis.
Methods
We created a 23-question survey for PCD referral centers to assess access to care across diverse clinical settings, as part of a sub-working group within the European Respiratory Society and American Thoracic Society PCD diagnostic guidelines task force. Survey questions focused on center data (size, location), access to PCD diagnostics tests (genetic testing, transmission electron microscopy (TEM), nasal nitric oxide testing (nNO), high speed videomicroscopy (HSVM), and immunofluorescence (IF)), and barriers to diagnosis. The survey was created using Qualtrics, at the Washington University School of Medicine, and was distributed using European, North American, and Asian local PCD patient groups and pulmonary listservs and collected between November 2024 and January 2026.
Results
Questionnaires were obtained from 133 respondents caring for > 4500 people with PCD; of which 127 were referral centers. The centers were geographically diverse, representing all major global regions: Europe (n = 69), Asia (n = 30), North America (n = 20), Africa (n = 4), South America (n = 3), and Australia (n = 1). In high-income countries (HIC); 84/85 centers reported access to genetics and 81/87 to TEM; both confirmatory tests for PCD (Figure 1). In middle-income countries (MIC), 25/28 centers reported access to genetics, whereas only 11/29 could perform TEM. Access to PCD adjunct diagnostic tests was greater in HICs than MICs, with nNO available in 80/97 versus 16/29 centers, HSVM in 59/87 versus 12/29, and IF in 44/86 versus 11/29. Overall, 80/87 HIC centers had both confirmatory tests and 85/87 ≥1 adjunct test, compared with 11/29 and 20/29 centers in MICs. Time to diagnosis was achieved in < 6 months in 45/61 from HICs and 24/27 from MICs. Barriers to testing included: test access, expertise and financial constraints. Solutions suggested included collaboration with other centers, obtaining funding from research grants and private funds, education, and empirical treatment.
Conclusions
Despite recommendations for a multi-test diagnostic algorithm, many centers lack testing capacity, likely contributing to delayed or missed PCD diagnoses. Global education, awareness, and novel collaborative strategies—particularly for low-resource settings—are needed to improve PCD diagnostic equity worldwide.
This abstract is funded by: None