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Background <p>The challenges of introducing Whole Genome Sequencing (WGS) as NHS standard of care for patients with glioma are reviewed.</p> Methods <p>Patients undergoing glioma surgery with WGS sampling were identified retrospectively from WGS reports between 01/01/2022-30/12/2023. Data including demographics, integrated molecular diagnosis, time through critical pathway steps per calendar quarter (Q) and WGS variants were captured from electronic health records.</p> Results <p>146 glioma samples were analysed. 91% of patients underwent craniotomy and 1 cm<sup>3</sup> tumour sampled for WGS, with median tumour content (MTC) of 69.5% (IQR + /- 30.5). The remainder underwent stereotactic needle biopsy, and one core sampled for WGS, with MTC of 73% (IQR + /- 19%). Median time from tumour sampling to completion of WGS report in Q1:2022 was 255 days (IQR + /- 107.5) versus in Q4:2023 was 137 days (IQR + /- 60.5; <i>p</i> &lt; 0.001). 26/146 (17.8%) patients had molecular variants leading to trial recommendation. 1 patient with glioblastoma and high Tumour Mutational Burden commenced anti-PD1 immunotherapy. 8 patients with glioblastoma had RB1 variants associated with improved progression-free survival.</p> Conclusions <p>WGS is feasible for patients undergoing biopsy or craniotomy. NHS infrastructural resources and improvement of WGS technologies are required to improve turnaround time and ensure equitable access for all patients with glioma.</p>

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Introduction of whole genome sequencing as NHS standard of care for glioma patients in two neurosurgical oncology centres: West Midlands

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月11日

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  • Victoria Wykes,
  • Erminia Albanese,
  • Vassili Crispi,
  • Sana Manan,
  • Taufiq Khan,
  • Naomi Cole,
  • Christine Bennett,
  • Lowri Hughes,
  • Natasha Vafadar,
  • Vinton Cheng,
  • Ute Pohl,
  • Manoj Raghavan,
  • Yvonne Wallis,
  • Colin Watts

摘要

Background

The challenges of introducing Whole Genome Sequencing (WGS) as NHS standard of care for patients with glioma are reviewed.

Methods

Patients undergoing glioma surgery with WGS sampling were identified retrospectively from WGS reports between 01/01/2022-30/12/2023. Data including demographics, integrated molecular diagnosis, time through critical pathway steps per calendar quarter (Q) and WGS variants were captured from electronic health records.

Results

146 glioma samples were analysed. 91% of patients underwent craniotomy and 1 cm3 tumour sampled for WGS, with median tumour content (MTC) of 69.5% (IQR + /- 30.5). The remainder underwent stereotactic needle biopsy, and one core sampled for WGS, with MTC of 73% (IQR + /- 19%). Median time from tumour sampling to completion of WGS report in Q1:2022 was 255 days (IQR + /- 107.5) versus in Q4:2023 was 137 days (IQR + /- 60.5; p < 0.001). 26/146 (17.8%) patients had molecular variants leading to trial recommendation. 1 patient with glioblastoma and high Tumour Mutational Burden commenced anti-PD1 immunotherapy. 8 patients with glioblastoma had RB1 variants associated with improved progression-free survival.

Conclusions

WGS is feasible for patients undergoing biopsy or craniotomy. NHS infrastructural resources and improvement of WGS technologies are required to improve turnaround time and ensure equitable access for all patients with glioma.