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LMB Seminar Series - The 100,000 genomes project and beyond

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The 100,000 genomes project set out to mainstream whole genome sequencing for treatment into the NHS . Genomics England, set up in 2013 to deliver the project, established sequencing and interpretation pipelines to enable whole genome sequences to be analysed for rare diseases and cancer patients with individual reports returned to clinicians. In parallel, NHS England set up a national network of NHS Genome Medicine Centres involving more than 80 hospitals to identify and consent eligible patients with unmet clinical need and delivering samples for sequencing with associated clinical data. Partnerships with the Scottish Genomes Partnership, NHS Wales and Health and Social Care in Northern Ireland have ensured patient access across the whole UK. The target of 100,000 genomes sequenced was reached in December 2018 at which point individual interpretation reports had been returned to the NHS for half of those genomes. Whole genome sequencing is now part of standard commissioned health care through the creation of the NHS Genome Medicine Service which is targeted to generate another 500,000 whole genomes for clinical care over the next 5 years. This is in addition to the 500,000 whole genomes of UK biobank participants planned over the same period.

The secure, scalable high performance-computing environment where all data processing takes place is located within the NHS firewall, but is also configured to support research. It is currently accessible by more than 1,500 researchers who are members of the Genomics England Clinical Interpretation Partnership (GeCIP). Researchers are organised into domains around disease or computational area. The environment contains a rich set of clinical data (more than 1 billion data points) including the longitudinal electronic health record of each participant, along side genome sequence and variant files with a full set of tools to enable research.

The construction of a dual use data environment within a health system provides a model for future translational human research. It allows researchers to move beyond analysis of cohorts of research subjects of limited size to analysis of patient data from whole health systems while respecting data privacy, allowing comorbidities and longitudinal health data to be better taken into account. It also provides a model for initiatives around other health data types, such as the newly announced InnovateUK Imaging, Pathology and AI centres and Health Data Research UK. I will discuss the progress of these projects and their impact on health research and personalised medicine in the UK.

This talk is part of the MRC LMB Seminar list series.

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