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Significance of Cancer: 

Cancer presents a significant challenge for European societies and healthcare systems, ranking as the second largest cause of death with over 1.9 million deaths annually.

Priorities Identified by Horizon Europe's Mission on Cancer: 

Earlier diagnosis and the implementation of precision medicine are key priorities for reducing cancer deaths, improving health outcomes, and enhancing the cost-effectiveness of healthcare systems.

Role of Precision Medicine:

Precision medicine relies on molecular characterization of a patient’s disease, with genomic profiling playing a central role in new treatment models. It enables earlier and more accurate diagnosis/stratification and guides targeted therapies.

Recommendations from EU Beating Cancer Plan: 

The EU Beating Cancer plan recommends genomic profiling for all cancer patients. The "Cancer Diagnostic and Treatment for All" initiative aims to improve access to new genomic diagnostics.

High-Quality Genomic Testing:

High-quality genomic testing, utilizing technologies such as Next-Generation Sequencing (NGS) and liquid biopsies, is crucial for successful implementation of precision medicine.

Challenges with NGS: 

NGS relies on complex multi-step workflows to analyze large numbers of genomic variants simultaneously. However, there are significant sources of uncertainty in these workflows, leading to variability and a lack of comparability, impacting patient care and hindering wider implementation.

Need for Standards and Reference Measurement Systems: 

Standards and Reference Measurement Systems are urgently needed to support assay validation and Quality Assurance. This includes establishing reference measurement procedures, SI-traceable reference materials, and providing guidance on measurement uncertainty.

Requirement for Collaboration: 

Developing and establishing novel metrological concepts, capabilities, and RMS for genomic profiling requires a large-scale, multi-disciplinary, and coordinated approach. Collaboration with key end-user stakeholders is crucial to achieving collective goals in this area.

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