The NAGENpediatrics project, led by Dr. Josune Hualde, was based on evidence reported in other studies, which had shown that genomic contributions allowed for unsuspected etiological diagnoses in a considerable percentage of complex patients, with potential implications for diagnostic and therapeutic management in pediatrics.
The objective of NAGENpediatrics was to evaluate the applicability of whole genome sequencing (WGS) in complex clinical situations within the Pediatric Area. Additionally, the use of WGS as a tool for discovering the genetic basis of autism spectrum disorder (ASD) was assessed.
A total of 758 genomes from various pediatric groups were analyzed, including critically ill newborns, children with solid tumors, and families with autism spectrum disorders. In the most severe cases, the genetic study enabled a diagnosis for 40% of cases in less than three weeks—a critical timeframe for medical decision-making.
The clinical pathway developed has already been integrated into the Pediatric Service of the HUN, making it possible to perform rapid sequencing as part of routine clinical practice. Furthermore, national collaborations were established to improve the genetic diagnosis of autism.
The project was led by Navarrabiomed, along with the HUN, Nasertic, and Avalon, and was funded by the Government of Navarra.