Clinical Impact of Ultra-Fast Whole Genome Sequencing in Paediatric Haematology-Oncology Practice
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Whole genome sequencing (WGS) improves childhood cancer diagnosis, enabling precision treatment. However, timely clinical decisions are made within days, while WGS clinical reports using current technologies and workflows, can exceed 6 weeks. Here we report an ‘Ultra-fast WGS (UF-WGS)’ workflow, providing rapid and acurate molecular profiling of childhood malignancies. In 54 children with suspected or confirmed cancer, UF-WGS reduced turnaround time from 37 to 3 days. It captured 95% of clinically actionable variants found by conventional methods, and identified 19 additional actionable variants. UF-WGS led to demonstrable improvements in care for 51% of prospective patients, including avoidance of over-medicalisation and support for timely precision therapy. UF-WGS was feasible across diverse tumour types and sample sources, with additional technical advantages in variant detection and workflow simplicity. These findings indicate UF-WGS can significantly improve the management of paediatric haematology/oncology patients, specifically through precision diagnosis, risk stratification and molecularly informed treatment escalation/de-escalation.
