From Sequencing to Survival: The Growing Role of Precision Medicine in Paediatric Oncology.

Abstract

The advent of comprehensive genomic sequencing has catalysed the emergence of paediatric precision medicine platforms globally. These have established the feasibility of profiling tumours at scale, enhancing our understanding of the genetic landscape of paediatric tumours and enabling identification of driver mutations and actionable targets. In turn, this has created the opportunity for development of novel precision-guided therapies (PGT). This commentary synthesizes evidence from major collaborative trials with a focus on outcome reporting, particularly in the relapsed/refractory and high-risk patient cohorts. Patients receiving PGT in these cohorts demonstrate meaningful responses and survival benefit, particularly when treatment is based on high-level clinical evidence and administered early in the disease course. However, challenges remain in addressing low uptake of PGT, likely hindered by substantial barriers in access and complex pharmaceutical regulatory constraints. Furthermore, heterogeneity in recommendation and outcome reporting hinders data harmonisation and generalisability of results. In addition to improving outcomes, comprehensive profiling can contribute to diagnostic refinement and identification of germline variant detection in a subset of patients. Emerging studies, conducted through national initiatives, signify the potential benefit of precision medicine for all patients with childhood cancer regardless of risk. A dynamic approach to address challenges and ensure cost-benefit is necessary to embed precision oncology as a standard of care for all children with cancer.