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Background <p>The Experimental Cancer Medicine Centre (ECMC) Network supports UK-wide access to experimental cancer therapies, many of which require specific genomic alterations. This study aimed to develop expert consensus on essential genes for a pan-cancer sequencing panel, involving subject matter experts (SMEs) from the ECMC Network and the pharmaceutical industry.</p> Methods <p>A pilot with 8 SMEs graded 526 genes, refining the list to 210. A three-round Delphi process was then used, with SMEs iteratively evaluating each gene. In the final round, SMEs also assessed the inclusion of tumour mutational burden (TMB), microsatellite instability (MSI), and mutation types (structural variations, copy number variations, and/or fusions).</p> Results <p>Consensus was reached on a final panel of 99 genes applicable across multiple cancers. High agreement was also achieved for including TMB, MSI, and screening for structural variations, copy number variants, and fusions. The panel is intended for both adult and paediatric tumour types.</p> Conclusions <p>This consensus-based gene panel offers a standardised approach to pan-cancer genomic screening. It supports harmonised diagnostics and could improve patient access to personalised therapies and research trials across clinical and NHS settings.</p>

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Experimental Cancer Medicine Centre (ECMC) network proposal for a consensus gene panel for pan-cancer sequencing: a Delphi methodology

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月8日

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  • Richard Phillips,
  • Bristi Basu,
  • Zohra Butt,
  • Mounia Beloueche,
  • Natalie Cook,
  • Simon J. Crabb,
  • Alastair Greystoke,
  • Darren Hargrave,
  • Robert Jones,
  • Muhammad Yasin Kureeman,
  • Juanita Lopez,
  • Claire McKeeve,
  • Magdalena Meissner,
  • Brent O’Carrigan,
  • Eileen E. Parkes,
  • Milind Ronghe,
  • Patricia Roxburgh,
  • Debashis Sarker,
  • Kienan I. Savage,
  • Paul H. S. Shaw,
  • Stefan Symeonides,
  • Deborah A. Tweddle,
  • Aditi Vedi,
  • Harriet S. Walter,
  • Joanna Zabkiewicz,
  • Gary W. Middleton,
  • Andrew D. Beggs

摘要

Background

The Experimental Cancer Medicine Centre (ECMC) Network supports UK-wide access to experimental cancer therapies, many of which require specific genomic alterations. This study aimed to develop expert consensus on essential genes for a pan-cancer sequencing panel, involving subject matter experts (SMEs) from the ECMC Network and the pharmaceutical industry.

Methods

A pilot with 8 SMEs graded 526 genes, refining the list to 210. A three-round Delphi process was then used, with SMEs iteratively evaluating each gene. In the final round, SMEs also assessed the inclusion of tumour mutational burden (TMB), microsatellite instability (MSI), and mutation types (structural variations, copy number variations, and/or fusions).

Results

Consensus was reached on a final panel of 99 genes applicable across multiple cancers. High agreement was also achieved for including TMB, MSI, and screening for structural variations, copy number variants, and fusions. The panel is intended for both adult and paediatric tumour types.

Conclusions

This consensus-based gene panel offers a standardised approach to pan-cancer genomic screening. It supports harmonised diagnostics and could improve patient access to personalised therapies and research trials across clinical and NHS settings.