Whole Genome Sequencing and Artificial Intelligence in the New Era of Precision Pediatric Oncology

Whole Genome Sequencing (WGS) and the application of Artificial Intelligence (AI) are significantly advancing the diagnosis and treatment of malignant diseases in pediatric patients. Precision pediatric oncology relies on detailed molecular profiling of tumors to enable an individualized therapeutic approach, improving treatment outcomes and reducing adverse effects. The identification of hereditary tumor syndromes through WGS is crucial for the early detection of germline mutations that predispose individuals to malignancies. This enables targeted preventive strategies and personalized monitoring for high-risk patients, contributing to improved early detection and risk assessment. In contrast, tumor molecular profiling is primarily performed using Whole Exome Sequencing (WES) of tumor DNA and Whole Transcriptome Analysis through RNA sequencing. WES enables the identification of somatic mutations, while RNA sequencing provides insights into gene expression patterns and fusion transcripts that drive tumor development. These techniques also enable the assessment of key biomarkers such as Tumor Mutational Burden, Homologous Recombination Deficiency, and Microsatellite Instability, which are crucial for selecting appropriate precision therapies, including immunotherapy and targeted treatments. This comprehensive molecular characterization enhances the ability to tailor treatment strategies to each patient’s unique tumor profile, improving therapeutic efficacy and minimizing adverse effects. The integration of these genomic and transcriptomic technologies into clinical practice contributes to the development of data-driven clinical guidelines, ultimately improving long-term patient outcomes. Future research should focus on expanding the accessibility of these technologies, ensuring their integration into routine clinical practice. As the field evolves, multidisciplinary collaboration between medical geneticists, oncologists, bioinformaticians, and AI specialists will be essential for maximizing the benefits of precision medicine in pediatric oncology.