NIBSC is currently working to establish WHO International Standards for:
Microsatellite Instability: endorsed by the WHO ECBS in 2018, NIBSC is working with the MSI diagnostic community to develop a set of genomic DNA primary standards to harmonise MSI 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 working as part of theInternational Liquid biopsy Standardization Alliance (ILSA; co-ordinated by FNIH), and the European Liquid Biopsy Society (ELBS), to harmonise global efforts in tools, measurement, and reporting for liquid biopsies. EGFR Genomic Variants: endorsed by the WHO ECBS in 2019, NIBSC aims to establish standards for EGFR variants in genomic DNA, to complement those standards produced for ctDNA, and support the alignment of solid tumour and liquid biopsy diagnostics. We also have ambitions to develop standards for BRAF variants, HER2/ERBB2 amplification, and tumour mutational burden (TMB). We welcome input into all our programmes to help best align our primary standards to the needs of the diagnostic community. Please get in touch if you would be interested in contributing expertise (and/or materials) via firstname.lastname@example.org.
Dr Ross Hawkins – Section HeadDr Ravneet BhullerMr Malcolm Hawkins Dr Leandro Lo CascioMr Noble OssaiDr Pia SanzoneMr Miltiades Stylianou
09/138: BCR-ABL1 (WHO) 16/120: JAK2 V617F (WHO) 16/250: KRAS codons 12 and 13 (WHO) 11/218: Lynch/HNPCC (MLH1/MSH2; CE) 18/164: ATDB102 Reference Genome (WHO)18/118: HCT 15 Cancer Genome (WHO)18/130: MOLT-4 Cancer Genome (WHO)04/224: Factor V Leiden (WHO)08/160: Factor VIII intron 22 inversion (WHO)05/130: Prothrombin G20210A (Factor II; WHO)08/158: Fragile X (WHO)09/140: Prader Willi and Angelman Syndromes (WHO)07/222: RhD/SRY Plasma DNA (WHO)11/214: Red Blood Cell Genotyping (WHO)
Further information on ordering genomic reference materials from NIBSC.