In-development Reference Materials

NIBSC is currently working to establish WHO International Standards for:

Microsatellite Instability/Tumour mutational burden: endorsed by the WHO ECBS in 2018, MHRA is working with the diagnostic community to develop a set of genomic DNA primary standards to harmonise MSI and TMB measurement. 

Circulating Tumour DNA (ctDNA): endorsed by the WHO ECBS in 2018, NIBSC is investigating different strategies to establish ctDNA primary standards, initially for EGFR variants. NIBSC is a partner in the International Liquid Biopsy Standardization Alliance (ILSA) Collaborative Community and is working with the European Liquid Biopsy Society (ELBS) to harmonise global efforts in tools, measurement, and reporting for liquid biopsies.

We also have ambitions to develop standards for:

•        Copy number alterations (CNA)
•        Gene fusions for MRD AML

We participate to initiatives to establish metrology frameworks to improve the quality and reproducibility of genomic profiling workflows

The Copy number alterations (CNA) project has received funding from the European Partnership on Metrology, co-financed from the European Union’s Horizon Europe Research and Innovation Programme and by the Participating States (GenomeMET).