Session recorded at the Genomics England Innovation Showcase 21.

Since the launch of the 100,000 Genomes project, researchers and clinicians have partnered with Genomics England to collect and analyse genomic and longitudinal clinical data to gain insight into the nature of genomic changes that drive cancer evolution. This research is ultimately helping clinicians to deliver more personalised treatment programmes and researchers to be able understand disease drivers.
In the next evolution of our cancer programme, we are introducing two disruptive technologies into the clinic and into research:

Long Reads & Methylation: We will be evaluating the clinical and operational impacts of using Long-Read & Methylation sequencing for cancer patients. This new technology can reveal large scale rearrangements in tumour DNA, as well as epigenetic changes that can alter gene expression. The hope is that this new information will highlight new treatment and clinical trial opportunities for patients.

Diagnostic imaging data: We will be enhancing our database in cancer by curating radiology and pathology digital images alongside the genomes of our ~15,000 solid tumour patients, making this the largest multimodal cancer dataset in the world. We will be introducing AI/ML tools that will allow researchers to explore the integrative impact of spatial heterogeneity and regional variations that are associated with the tumour microenvironment, alongside the molecular features of the tumour, in predictive models of response to treatment or prognosis. We anticipate that this resource will unlock new insights into mechanism of action in cancer and could lead to novel prognostic and diagnostic tools.

This session explores our strategy to enhance our tools to characterise cancer and about our long-read sequencing and multimodal programmes.

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