Nationwide Insights Into Genetic Testing Awareness, Availability, Utilization Challenges in Children With Chronic Kidney Diseases.

This article focuses on the perceptions and utilization of genetic testing among pediatric nephrologists in the Kingdom of Saudi Arabia for diagnosing inherited kidney diseases in children. A nationwide survey of 40 consultant pediatric nephrologists found that over 60% had access to genetic testing services, with whole exome sequencing (WES) being the most commonly used modality. Major barriers to routine genetic testing included financial constraints and limited provider knowledge in interpreting results. The most frequent indications for testing were glomerulopathies, tubulopathies, and ciliopathies, often requested when clinical phenotypes were unclear and family history was significant. The study highlights the need for increased education, financial support, and infrastructure improvements to enhance genetic testing utilization in pediatric nephrology.