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Real-world clinical utility of tumor whole-genome sequencing in solid cancers - PubMed

4 hours ago
  • #Precision oncology
  • #Biomarkers
  • #Whole-genome sequencing
  • Whole-genome sequencing (WGS) is a tumor-agnostic solution for detecting complex DNA-based biomarkers in precision oncology.
  • Real-world data from 888 patients shows WGS succeeded in 89% of cases with a median turnaround time of 6 working days.
  • Potentially actionable biomarkers were identified in 73% of patients, including biomarkers for reimbursed (27%) and experimental (63%) therapies.
  • Within 1 year, 40% and 19% of patients started biomarker-informed treatment, associated with a 31% longer median overall survival (+96 days).
  • In cancers of unknown primary (n = 123), WGS contributed to diagnostic solutions or detected biomarker-driven reimbursed treatment options in 67%, with 68% starting tumor-type-specific therapy.
  • Clinically relevant pathogenic germline variants were identified in 6.5% of patients.
  • WGS-based diagnostics had clinical consequences for 41% of tested patients, proving to be a versatile tool for routine clinical practice in solid oncology.