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<p>Molecular testing is essential in precision oncology. Whole-genome sequencing (WGS) provides a tumor-agnostic solution for detecting an increasingly complex range of DNA-based biomarkers. Here we present real-world data from 888 patients to demonstrate the clinical utility of routine, paired tumor-normal WGS diagnostics for solid cancers in a comprehensive cancer center. 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, respectively, started biomarker-informed treatment, which was associated with a 31% longer median overall survival (<i>+</i>96 days) compared with patients not receiving such therapy. Among patients without prior systemic therapy, biomarker-informed treatment yielded significantly longer overall survival (median not reached) than non-biomarker-informed therapy (427 days) or no systemic therapy (214 days). In cancers of unknown primary (<i>n</i> = 123), WGS contributed to diagnostic solution 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. Overall, WGS-based diagnostics had clinical consequences for 41% of tested patients, providing a versatile tool for routine clinical practice in solid oncology.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月20日

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  • Jeffrey van Putten,
  • Petur Snaebjornsson,
  • Linda J. W. Bosch,
  • Roelof Koster,
  • Paul Roepman,
  • Joseph Usset,
  • Mirjam C. Boelens,
  • Tom van Wezel,
  • Efraim H. Rosenberg,
  • Serena Marchetti,
  • Marieke Vollebergh,
  • Doenja M. J. Lambregts,
  • Lizet E. van der Kolk,
  • Edwin Cuppen,
  • Hilde H. Nienhuis,
  • Kim Monkhorst

摘要

Molecular testing is essential in precision oncology. Whole-genome sequencing (WGS) provides a tumor-agnostic solution for detecting an increasingly complex range of DNA-based biomarkers. Here we present real-world data from 888 patients to demonstrate the clinical utility of routine, paired tumor-normal WGS diagnostics for solid cancers in a comprehensive cancer center. 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, respectively, started biomarker-informed treatment, which was associated with a 31% longer median overall survival (+96 days) compared with patients not receiving such therapy. Among patients without prior systemic therapy, biomarker-informed treatment yielded significantly longer overall survival (median not reached) than non-biomarker-informed therapy (427 days) or no systemic therapy (214 days). In cancers of unknown primary (n = 123), WGS contributed to diagnostic solution 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. Overall, WGS-based diagnostics had clinical consequences for 41% of tested patients, providing a versatile tool for routine clinical practice in solid oncology.