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

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

Progetti europei
Ente finanziatore
Responsabile di Unità
Claudia Giachino

Aree / Gruppi di ricerca

Partecipanti al progetto

Descrizione del progetto


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. GenomeMET will apply 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).


Cancer is one of the most significant challenges for European societies and healthcare systems, being the second largest cause of death with > 1.9 million deaths per year. Horizon Europe’s Mission on Cancer has identified earlier diagnosis and implementation of precision medicine as key priorities for reducing deaths, improving health, and improving the cost-effectiveness of health systems. 

Precision medicine relies on molecular characterisation of a patient’s disease, with genomic profiling central to new treatment models, enabling earlier and more accurate diagnosis/stratification and guiding targeted therapies. The EU Beating Cancer plan recommends genomic profiling for all cancer patients, with the “Cancer Diagnostic and Treatment for All” initiative improving access to new genomic diagnostics.  

High quality genomic testing using technologies such as NGS and liquid biopsies is vital for successful implementation of precision medicine. However, NGS relies on complex multi-step workflows to simultaneously analyse large numbers of genomic variants, which are susceptible to major and poorly understood sources of uncertainty, resulting in significant variability and a current lack of comparability, impacting patient care and hindering wider implementation.

The standards and RMS to support assay validation and Quality Assurance (QA), including reference measurement procedures (RMP), SI-traceable reference materials (RM) and measurement uncertainty (MU) guidance have yet to be established and are urgently needed to support new test development and approval under IVDR EU 2017/746 and implementation by clinical laboratories accredited to quality standards such as ISO 15189 or 17025.

Developing and establishing novel metrological concepts, capabilities and RMS for genomic profiling will require a large-scale, multi-disciplinary and coordinated approach in collaboration with key end-user stakeholders to achieve the collective goals. GenomeMET addresses the above challenges and aligns with the scope of the EPM Health call (personalized medicine and ensuring reliability of diagnostics at the molecular level).


GenomeMET will develop metrological capability and establish metrology frameworks to improve quality and reproducibility of critical processes within genomic profiling workflows, and RMS for high accuracy SI-traceable cancer gene measurement to improve comparability and support assay validation as required by the IVDR (EU) 2017/746.

Ultimo aggiornamento: 09/10/2023 22:10
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