A SERVICE EVALUATION OF WHOLE GENOME SEQUENCING IN PRIMARY BRAIN TUMOURS AT A TERTIARY UK NEURO-ONCOLOGY CENTRE: CLOSING THE GAPS

Abstract AIMS Whole Genome Sequencing (WGS) provides comprehensive genomic profiling of brain tumours. In Wessex, the integration of WGS into clinical workflow has been adopted rapidly to enable this emerging clinical tool. This requires multi-speciality working and the support of a dedicated Genomics Medicine team. This project reviews the current WGS pathway infrastructure within a large tertiary UK neuro-oncology unit. METHODS Patients with primary brain tumours eligible for WGS as per NHS/GLH criteria were identified from theatre lists between January-December 2024. Electronic patient records, histopathological reports and WGS reports were analysed. Rates of adequate sample collection and completed WGS reports were recorded. Uncompleted WGS reports were analysed for root cause. RESULTS Pre-operative clinical assessment of patients undergoing surgical intervention for a primary brain tumour in- cludes discussion of WGS testing. 104 patients were identified as eligible for WGS. Of these, 70 (67.3%) had ade- quate frozen tissue taken at time of surgery to facilitate WGS. The Genomics Medicine team consent patients to WGS and track samples from the point of collection to ensure all samples proceed. From the samples collected, all have progressed to one of three categories: WGS report, low DNA content, clinical reason to abandon test- ing. The weekly GTAB meeting led by the Genomics Medicine team and clinical scientists works closely with clinicians to interpret results and identify potential therapeutic targets/clinical trials. A review to investigate barriers to adequate sample collection/uncompleted WGS is ongoing. CONCLUSION BNOS and Darzi reports separately recommend the routine use of WGS for all patients with primary brain tumours. This audit demonstrates the rapid adoption of the this tool in clinical practice with a robust multi- disciplinary clinical pathway. The Genomics Medicine team facilitate sample processing to a conclusion in all instances and are imperative to WGS interpretation.