Metrology for genomic profiling to support early cancer detection and precision medicine

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Cancer is a major burden on European society. Advances in genomics, driven by technologies such as Next Generation Sequencing (NGS), are transforming cancer care, enabling earlier and more accurate diagnosis, guiding therapy selection and driving development of targeted therapies (precision medicine). This improves patient outcomes and health system effectiveness. However, quality and comparability of genomic profiling currently varies significantly and development of standards and metrological means to support the field are in their infancy. This project aims to address this need by applying metrological principles to develop reference measurement systems (RMS) to support cancer genomic diagnostics in compliance with the In-vitro Diagnostic Device Regulation (IVDR EU 2017/746).