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

癌症是欧洲社会的主要负担。在下一代测序(NGS)等技术的推动下，基因组学的进步正在改变癌症护理，使更早和更准确的诊断成为可能，指导治疗选择并推动靶向治疗(精准医学)的发展。这改善了患者的预后和卫生系统的有效性。然而，目前基因组图谱的质量和可比性差异很大，支持该领域的标准和计量手段的发展还处于初级阶段。该项目旨在通过应用计量学原理开发参考测量系统(RMS)来满足这一需求，以支持符合体外诊断设备法规(IVDR EU 2017/746)的癌症基因组诊断。

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).