Metrology for genomic profiling to support early cancer detection and precision medicine
Short Name: GenomeMET, Project Number: 22HLT06
Using next generation sequencing to design precision medicine for cancer treatment
In Europe, cancer caused 1.26 million deaths in 2020, and the number of deaths caused by cancer is expected to increase by 32 % by 2040.
The EU Beating Cancer plan focusses on improving the healthcare system surrounding cancer, and the Cancer Diagnostic and Treatment for All initiative strives to increase the accessibility of genomic profiling diagnostic tools. Genome sequencing uses techniques such as next generation sequencing (NGS) to obtain molecular information about an individual’s genetic makeup. In cancer treatment, this information can be used to develop personalised targeted therapy and aid early diagnosis.
Implementation of genome sequencing is limited since the data analysis introduces major uncertainties, resulting in significant variability and reduced comparability between genomic profiling techniques.
This project will focus on the development of the metrological infrastructure needed to implement genomic profiling across European healthcare institutes.
Pre-analytical and analytical steps, such as uniformity of NGS libraries and yield, will be included in new measurement methods for determining quality control parameters and the measurement uncertainty. This will help to increase comparability and reproducibility between genomic profiling workflows.
Additionally, the first higher order reference measurement procedure for measuring genomic biomarkers will be developed, which will aid the quality assessment of genomic reference material. The project will publish case studies and white papers to communicate their findings.
Overall, this development of the needed metrological structure will help make genomic profiling for cancer prevention and treatment accessible across Europe and greatly contribute to the Horizon Europe’s Mission on Cancer.