Abstract

The 100,000 Whole Genome Sequencing Project

Mark Caulfield, Chief Scientist, Queen Mary University of London

The key principle of the 100,000 genomes project is to undertake whole genome sequencing from patients with cancer, rare disorders, and infectious disease, and link these data to a standardised, extensible clinical information including treatment history, and patient outcomes. This will produce new capability and capacity and hopefully a lasting legacy for genomic medicine within the NHS and we are learning from current pilots in rare disease and cancer. To identify and enrol participants we have created the concept of NHS Genomics Medicine Centres and 11 have been commissioned to harness the capability and capacity of the NHS across England to contribute to the 100,000 Genomes Project between 2015 and 2017. Alongside we will create the Genomics England Clinical Interpretation Partnership to bring funders, researchers, NHS teams, trainees and potentially industrial partners together to enhance the value of this dataset for healthcare benefit. Our £24m MRC-funded data infrastructure award is designed to enhance the UK Clinical Research Infrastructure in Genomic Medicine and could be used to store whole genome sequence from other disorders and a range of associated multi-omic datasets. In partnership with the Wellcome Trust, the Sanger Centre and Illumina we are creating the NHS Genomics England Sequencing Centre at Hinxton which will undertake whole genome sequencing for the main programme. This offers a major opportunity to transform the lives of patients with rare disease, cancer and infections.