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

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.

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-Organization for Economic Cooperation and Development (OECD) countries). Binary logistic regression identified factors associated with barrier experience.

Overall, 97% regarded genetic testing an important tool to improve care, yet 50% experienced barriers in daily practice. Median barrier severity score was 4.0 (interquartile range [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 posttest insurability. Hospital-level barriers included insufficient clinic's resources (costs, time, technical facilities, and staffing), missing protocols for eligible patients or workflow and turnaround time (nonurgent: 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.

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.