NIBSC is currently working to establish WHO International Standards for:
Cancer Genomes: expected to be established by the WHO Expert Committee on Biological Standardization (ECBS) in 2019, NIBSC has produced the first pan-cancer genome primary standards for PIK3CA p.E545K, TP53 p.R306*, NRAS p.G12C, PTEN p.K267fs*9, and MAP2K1/MEK1 p.D67N, along with a common wild-type genomic DNA material. These standards will also have additional data on other verified variants, intended for the broader validation of next-generation sequencing pipelines.
The WHO 1st International Standards for HCT 15 Cancer Genome, MOLT-4 Cancer Genome, and ATDB102 Reference Genome (NIBSC product codes 18/118, 18/130, and 18/164, respectively) are expected to be available late 2019/early 2020.
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 the International Liquid Biopsy Alliance, co-ordinated by FNIH, to harmonise global efforts in tools, measurement, and reporting for liquid biopsies.
EGFR Genomic Variants: to be proposed to 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 grmteam@nibsc.org.