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

Area of Science:

• Genomics
• Oncology
• Molecular Diagnostics

Background:

• The Experimental Cancer Medicine Centre (ECMC) Network facilitates access to novel cancer therapies.
• Many experimental therapies rely on specific genomic alterations for efficacy.
• A standardized genomic approach is needed for broad application across cancer types.

Purpose of the Study:

• To develop expert consensus on essential genes for a pan-cancer sequencing panel.
• To involve subject matter experts (SMEs) from the ECMC Network and pharmaceutical industry.
• To identify key genomic markers for targeted cancer therapies.

Main Methods:

• A pilot study involved 8 SMEs grading 526 genes, reducing the list to 210.
• A three-round Delphi process was employed for iterative gene evaluation by SMEs.
• The final round assessed tumor mutational burden (TMB), microsatellite instability (MSI), and various mutation types (structural variations, copy number variations, fusions).

Main Results:

• Consensus was achieved on a 99-gene panel applicable across multiple cancer types.
• High agreement was reached on including TMB, MSI, and screening for structural variations, copy number variants, and fusions.
• The panel is designed for both adult and pediatric tumor types.

Conclusions:

• A consensus-based gene panel provides a standardized method for pan-cancer genomic screening.
• This approach supports harmonized diagnostics for cancer patients.
• It has the potential to enhance patient access to personalized therapies and research trials within clinical and NHS settings.