100,000 Genomes Project delivers its goal and aids precision medicine delivery in the UK
100,000 Genomes Project delivers its goal and aids precision medicine delivery in the UK.
December 5th 2018 is an important day for the 100,000 Genomes Project. At a meeting today the Right Hon Matt Hancock MP, Secretary of State for Health and Social Care, announced the completion of the 100,000th genome sequenced. The 100,000 Genomes Project was launched in 2012 as a ground-breaking project to harness the potential of genomics, sequence 100,000 genomes and bring the benefits of this technology to patients across the NHS. It is the largest project of its kind in the world.

The NIHR National Biosample Centre (NIHR NBC) commenced supporting this national level programme in 2015. It has collaborated with 13 Genomic Medicine Centres, 85 NHS trusts, Illumina and Genomics England to collate, process and undertake quality control measures on all samples collected across the NHS prior to sequencing. NIHR NBC which runs the largest biorepository in the UK undertakes a detailed quality assessment on each DNA sample to ensure it will deliver quality sequence data before samples are despatched for sequencing. These measures include concentration measures, assessment of double stranded DNA status, assessment of DNA fragment size and volume checks.

DNA samples are managed in NIHR NBC’s automated Quadbank -80°C stores which manage the sample picking and arraying in a highly automated manner. The project has required considerable process and informatic process development across all the partners to deliver the target goal announced today. By the end of this project NIHR NBC was processing in excess of 8,000 DNA samples a month.

James Fenton, the responsible Project Manager at NIHR NBC, said: “It has been a unique study to have been part of and a fantastic achievement on all fronts, really demonstrating that the UK is leading the way in genomic research towards personalised medicine. This milestone is testament to the hard work and dedication put in by all at NIHR NBC and our partners in GeL, the NHS GMCs and Illumina” .