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

Genetic testing identifies underlying causative mutations in many children with kidney diseases. However, several factors prevent the widespread implementation of this useful tool in clinical practice. We aim to evaluate the perception and current state of genetic testing utilization among pediatric nephrologists.

This study involved a nationwide survey including questions about the availability of genetic testing, perceptions, modalities, indications, and barriers to routine utilization in clinical practice.

Forty pediatric nephrologists completed the survey. Over 60% of respondents reported that genetic testing services were available at their institutions and over 70% reported that whole exome sequencing was the most frequent genetic testing modality. Barriers to genetic testing were mostly financial or due to a lack of awareness among providers. Glomerulopathies, tubulopathies, and ciliopathies were the most common reasons for sending genetic samples.

Despite the availability at most centers, pediatric nephrologists face difficulties in interpreting genetic test results.