What's Happening?
The Experimental Cancer Medicine Centre (ECMC) network has developed a consensus-based pan-cancer large gene panel aimed at standardizing genetic testing across various cancer types in the UK. This initiative
seeks to streamline treatment pathways and enhance access to research trials. The study utilized a three-round Delphi process, involving subject matter experts (SMEs), to finalize a list of 99 essential genes for broad-spectrum genomic screening of tumors. The panel includes significant genomic markers such as tumor mutational burden (TMB) and microsatellite instability (MSI), which are relevant across multiple cancer types. The collaboration involved SMEs from academia and industry, addressing the need to unify gene panel protocols and provide a foundation for comprehensive cancer genomic screening within the NHS.
Why It's Important?
The development of a pan-cancer gene panel is significant as it aligns with emerging research advocating for broad-spectrum genetic screening. This approach can capture common and unique mutations across various cancers, facilitating personalized medicine by identifying actionable mutations and biomarkers. It offers patients tailored treatment opportunities and more accurate prognostic assessments. Integrating such a panel within the NHS could standardize patient access and provide reliable infrastructure, ensuring consistency and affordability across UK cancer care settings. The ECMC panel's focus on a streamlined, high-utility gene set with strong translational relevance reinforces its potential for scalable deployment within the NHS.
What's Next?
The proposed gene panel may face challenges due to its small size, which restricts accurate estimation of tumor mutation burden (TMB). Supplemental assays might be required in clinical settings where TMB is critical for treatment decision-making. Additionally, the omission of genomic signatures like homologous recombination deficiency (HRD) highlights areas for improvement. The panel's development supports a unified approach to cancer diagnostics and personalized care within the NHS, laying the groundwork for consistent genetic testing across NHS genomics laboratories.
Beyond the Headlines
The Delphi methodology used in developing the gene panel presents limitations, such as participant fatigue and potential knowledge gaps among SMEs. These factors could impact the robustness of gene evaluations, particularly for genes relevant to paediatric and brain cancers. Despite these challenges, the research offers a blueprint for creating a cohesive approach to cancer diagnostics and personalized care within the NHS and beyond.
