Access to Genetic Testing in Patients with Suspected Genetic Kidney Disease in Europe

Introduction A genetic diagnosis can transform care for patients with monogenic kidney disease—guiding treatment, prognosis, family-planning and care for relatives. Despite technological advancements, nephrologists still experience barriers to implementing diagnostic genetic testing in daily practice. Methods We surveyed 240 pediatric nephrologists, adult nephrologists and clinical geneticists across 39 European countries on the accessibility of and barriers to genetic testing for suspected genetic kidney disease. Using the Consolidated Framework for Implementation Research (CFIR) model, we assessed barriers at national, hospital, individual and implementation-process levels. Results were stratified by region (North, East, South, West-Europe and non-Organisation for Economic Co-operation and Development (OECD) countries). Binary logistic regression identified factors associated with barrier experience. Results 97% regarded genetic testing an important tool to improve care – yet 50% experienced barriers in daily practice. Median barrier severity score was 4.0 (IQR 4, scale 1-10). Non-OECD countries showed higher scores (6.8 (IQR 3.6), p<0.001). Most reported national-level barriers were lacking clear professional guidelines and concerns about post-test insurability. Hospital-level barriers included: insufficient clinic's resources (costs, time, technical facilities, staffing), missing protocols for eligible patients/workflow and turnaround time (non-urgent: 12 weeks (IQR 12), urgent: 3 weeks (IQR 2)). Ranking barriers by region revealed a gradient from fewest barriers in Northern-Europe, followed by West, South, East and most in non-OECD countries. Lack of external funding and non-OECD origin were associated with barriers. Conclusion We identified barriers that must be addressed at a European level and within regions. We provide recommendations to promote equitable care for patients with suspected hereditary kidney disease in Europe.