Abstract
AUTHORS: K Ashkan and R Houlston on behalf of Glioma GeCIP AIM: to update the UK’s neuro-oncology community on Genomics England’s 100,000 Genome Project and the implications for patients with brain tumours. BACKGROUND: In 2013 Genomics England committed to whole genome sequencing of 100,000 genomes in patients with rare diseases, including cancers. The four stated aims were: bringing benefit to NHS patients, creating an ethical and transparent programme based on consent, enabling new scientific discovery and medical insight, and kick starting the development of a UK genomics industry. The project is supported by the 13 NHS Genomic Medical Centres, NIHR National Biosample Centre and Illumina NHS Genomic Medicine Sequencing Centre. Central to the project is the concept of Genomic England Clinical Interpretation Partnership (GeCIP) to prioritise and address clinical questions from the genomic data generated to maximise benefit to the patients. The first wave of the project in 2014 adopted commoner cancers namely cancers of breast, lung, prostate, large bowel, ovaries and CLL. In late 2015, we campaigned for adoption of primary brain tumours into the programme, given our strong belief that such research was urgently required and was likely to yield clinically important information. In early 2016, Genomics England agreed to the adoption of adult gliomas into the programme as well as a number of other primary brain tumours. METHODS: In this talk the current status of Genomics England’s 100,000 Genome Project as applied to the brain tumours is discussed. The steps required to set up and start the project in the various neurosurgery/ neuro-oncology centres across the UK are illustrated. The processes involved in accessing and translating the genomic data generated to address clinically relevant questions are described. CONCLUSION: Genomics England’s 100,000 Genome Project represents a great opportunity to obtain unique data with real potential for patient benefit. Involvement of neurosurgery/ neuro-oncology centres across the UK is essential to maximise this potential.