•   The healthcare pathway has been implemented as a result of the pilot initiative NAGENPediatrics.

Genomic sequencing in pediatric patients is transitioning from the realm of research to clinical practice, thanks to the coordination between the Genetics and Pediatric Departments, and the Management of the University Hospital of Navarra. Leading this initiative is Josune Hualde, a pediatrician at the University Hospital of Navarra and researcher at the Genomic Medicine Unit of the biomedical research center Navarrabiomed.

Between 2020 and 2022, Navarrabiomed spearheaded the NAGENPediatrics project, aimed at integrating the use of genomic analysis technology in pediatric patients within the Navarre Health Service (Osasunbidea).

Throughout 2023, infants up to four months old who are born with a high suspicion of genetic disease or have tested positive in the traditional heel-prick screening will benefit from this advanced technique. This methodology will enable the identification of altered genomic variants, thereby facilitating early and accurate diagnoses of genetic diseases.

The major advantage of this pathway is the exceptional speed at which highly significant genomic results are obtained, thus enabling the early implementation of personalized treatments and the integration of multidisciplinary care. A comprehensive treatment plan, which is personalized and agreed upon, can be established, ensuring ongoing care and follow-up.

The NAGEN Pediatrics project, part of the NAGEN Program, was selected for funding in the call for strategic R&D projects by the Department of Economic and Business Development in 2020. The project received funding amounting to €1,450,819 for its development and implementation between 2020 and 2022. With the support from this department of the Government of Navarra, NAGENPediatrics has allowed the testing of whole-genome sequencing technology in the Navarre Health Service (Osasunbidea), which will now be effectively incorporated into the healthcare portfolio outside the project itself.
 

Clinical care pathway established at the University Hospital of Navarra (HUN)

Ainhoa Iceta and Alberto Valiente, heads of the Pediatric and Genetics Departments, respectively, along with the HUN management team, have worked in coordination to facilitate the implementation in clinical practice. “These accurate and early diagnoses will have a direct impact on families by reducing the 'diagnostic odyssey' traditionally faced by families and promoting a more sustainable healthcare system by avoiding unnecessary tests or treatments,” says Iceta.

For Hospital Management, the transfer of knowledge gained from this research to the clinical care of patients helps progress towards the development of more precise medicine, more efficient resource utilization, and higher quality healthcare for the patient and their family.

NAGENPediatrics Project

NAGENPediatrics, led by the biomedical research center Navarrabiomed, has sequenced the genomes of 758 individuals from 266 participating families and has enabled genetic diagnosis in one-third of the studied children, with an average turnaround time of 18 days.
NAGENPediatrics is part of the NAGEN Program, an initiative developed by Navarrabiomed since 2016 and funded by the Government of Navarra, aiming to implement genome sequencing and analysis in specific individuals and pathologies within the SNS-O (Navarre Health Service).

From left to right: Maite Mendioroz (Navarrabiomed), Alberto Valiente (Genetics, HUN), Ainhoa Iceta and Josune Hualde (Pediatrics, HUN), Amaya Bengoa (Genetics, HUN), and Alfredo Martínez (HUN).