Needs

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.

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.

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.

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

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.

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.

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.