Currently, the application of precision medicine in pediatric oncology is a reality in a large number of centers in Spain, but its implementation is uneven and there is no standard protocol. With the aim of analyzing the current status of precision medicine for pediatric tumors in Spain, the group of Childhood Cancer and Blood Disorders of Vall d'Hebron Research Institute (VHIR) and the Department of Hematology and Pediatric Oncology of Vall d'Hebron University Hospital have participated in a collaborative work of the Spanish Society of Hematology and Pediatric Oncology (SEHOP), especially focused on the application of tumor sequencing techniques in clinical practice. The results have been published in the journal Clinical and Translational Oncology.

The collaborative work of SEHOP started in 2019 and aims to boost precision medicine in the national health system in the field of childhood cancer. It has four main objectives: to assess the current situation in Spain, to define the molecular tests that should be used for each type of tumor, to facilitate access for all pediatric oncology patients to these programs regardless of the center where they are diagnosed and treated, and to facilitate access to targeted therapies and clinical trials of new drugs based on the results of molecular testing. The study published now is the first part of this work that analyzes national data on tumor molecular studies and genomic sequencing performed at diagnosis and relapse, the centers performing the studies, the technology used, and the clinical applicability of the results.

The analysis was based on surveys carried out in 29 centers, which provide care to 84% of the total number of children with cancer in Spain, in order to obtain an overall view of the situation. The use of genomic sequencing techniques was studied, thanks to which cancer patients can receive a more accurate diagnosis and facilitate the identification of potential prognostic biomarkers that can help to improve their survival. Proper analysis of tumor mutations also helps to access clinical trials of targeted therapies when there is no success with conventional therapies.

The results showed that 41% of hospitals have access to molecular characterization of tumors at the time of a new diagnosis. These molecular studies are carried out in 62% of the centers when there is a relapse. The most commonly used method for tumor sequencing is next generation sequencing (NGS), which allows the simultaneous analysis of alterations in different genes and allows its application in clinical practice.

In addition to NGS, there are other advanced methods for molecular analysis of the tumor, such as WES, WGS and RNAseq, which are still not widely used due to their high cost but which provide additional information on the genetic alterations of the tumor. Vall d'Hebron is one of the hospitals using them.

The study has observed that the degree of implementation is heterogeneous across the different regions, since, until now, patient access to tumor sequencing has been the result of individual initiatives by the centers, which means that each one follows different protocols. "National coordination is necessary to overcome inequalities. Collaboration between different hospitals to create a homogeneous strategy will ensure equity in access to precision medicine for all patients and the future implementation of the national precision medicine program in routine clinical practice", explains Dr. Lucas Moreno, head of the Department of Hematology and Pediatric Oncology at Vall d'Hebron Hospital and head of the research group in Childhood Cancer and Blood Disorders at VHIR.

There are also some challenges to solve in order to apply these techniques in routine clinical practice, such as the limited access to targeted therapies or the high cost of personalized medicine.

In addition to Vall d'Hebron, the following hospitals have participated in the study: Hospital Sant Joan de Déu, Hospital Universitario La Fe (Valencia), Hospital Universitario La Paz (Madrid), Hospital Infantil Universitario Niño Jesús (Madrid), Hospital Montepríncipe de Madrid, Hospital Infantil Virgen del Rocío (Sevilla), Hospital Universitario Cruces (Barakaldo), Clínica Universitaria de Navarra and Instituto de Salud Carlos III.

This work has established the basis for the PENCIL-SEHOP project, recently awarded by the Instituto de Salud Carlos III and led by Vall d'Hebron, which will be launched in the coming months. This is a project for the implementation of personalized medicine programs to which pediatric patients from all over Spain can have access.