The overall objective of this project is to develop metrological capability and to establish metrology frameworks to improve the quality and reproducibility of critical processes within genomic profiling workflows as well as Reference Measurement Systems for high-accuracy SI-traceable cancer gene measurement to improve comparability and support assay validation as required by the In Vitro Diagnostic Medical Devices Regulation (EU) 2017/746.
1
To demonstrate the application of Reference Measurement Systems to support development, validation, and quality assurance and external quality assessment of genomic In Vitro Diagnostic Medical Devices in accordance with EU IVDR 2017/746, including i) the establishment of an initial baseline framework (using outcomes from Objectives 2, 3 and 4), and ii) demonstration of proof of concept using key cancer genomic profiling models (NGS).
2
To establish Reference Measurement Procedures for high accuracy SI-traceable measurement of key cancer biomarkers and higher-order methods to measure critical Quality Control parameters within genomic profiling workflows to support genomic Reference Measurement Systems development.
3
To develop and characterise Reference Materials and external quality assessment materials for genomic profiling in line with ISO 15194, ISO 15711 and JCTLM, with SI-traceable reference values and sequencing datasets, and to use these to establish a framework for SI traceable value assignment and commutability assessment of reference and external quality assessment materials to support genomic In Vitro Diagnostic Medical Devices.
4
To develop a framework for determining the measurement uncertainty in quantitative genomic data and nominal output data in multiparametric genomic profiles.
5
To facilitate the take-up of the measurement infrastructure, methods, and materials developed in the project by the measurement supply chain, standards-developing organizations, and end users.