Genomics England and the 100,000 Genomes Project
Paving the way for personalised medicine in the NHS
What is Genomics England and the 100,000 Genomes Project?
Genomics England was set up in 2013 as a company wholly owned by the Department of Health. Their task is to deliver the 100,000 Genomes Project, a flagship project that will sequence 100,000 whole genomes from NHS patients with a rare disease and their families, and common cancers. There’s also an infectious diseases element to the project which is being run by Public Health England.
As of December 2018, Genomics England reached the milestone of sequencing 100,000 whole genomes. They are currently working towards completing sequencing all samples that were submitted to the project and returning results to the NHS through 2019. For rare disease patients, Genomics England aims to provide genomic diagnoses for the first time. For patients with cancer, there is the potential for more personalised treatments and in time, the project will lead to the development of new or more effective diagnostics and treatments. By the end of this project, Genomics England will have put in place the infrastructure, training, and systems to enable the NHS to offer genomic medicine to those who need it.
This is currently the largest project of its kind in the world and it puts the UK at the forefront of transforming healthcare through genomics.
Who is involved?
Genomics England is working with NHS England, Health Education England, and Public Health England to deliver the project. There are thirteen NHS Genomic Medicine Centres (GMCs) across England to recruit patients, take the samples and provide medical information to the project. Initiatives in Scotland, Northern Ireland, and Wales have also been set up.
Achievements to date
Here are some of the exciting milestones reached by the Genomics England team:
- Sequenced over 100,000 whole genomes.
- Delivered first diagnoses to families affected by rare disease (First children receive diagnoses).
- Launched PanelApp – a crowdsourced repository for rare disease gene panels. It now has 151 gene panels and 3349 genes, with over 400 people registered from all over the world. The UK Genetic Testing Network (UKGTN) asks UK diagnostic labs to check PanelApp prior to submitting new gene tests. The PanelApp software is now open sourced to allow scientists in organisations across the world upload their own data to create gene panels for research.
- Developed bespoke sample processing, data management, and bioinformatics systems.
- Delivered rare disease reports at scale to NHS GMCs, thanks to our Clinical interpretation partners – Congenica, Fabric Genomics (formerly Omicia) and WuXi NextCODE.
- Launched a year-long series of public and patient engagement activities ‘the Genomics Conversation’. The project currently features in the London Science Museum’s “Our Lives in Data” exhibit.
- Hosted the opening of their first sequencing centre (Bridget Ogilvie Building) with Prime Minister Theresa May, along with colleagues at the Sanger Institute, and Illumina.
- Delivered the first cancer analysis reports to NHS GMCs.
- Published a report on a public dialogue on genomic medicine, co-funded by Sciencewise and the Scottish Genomes Partnership, based on the Chief Medical Officer’s recommendations in the ‘Generation Genome’ report.
Following the success of the 100,000 Genomes Project, the Department of Health and Social Care has tasked Genomics England with supporting the Secretary of State’s aspiration of sequencing 5 million genomes in the next five years.
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