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 rare disease and their families, and common cancers. There’s also an infectious diseases part which is being run by Public Health England.

For rare disease patients, Genomics England will aim 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 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 are also being set up.

Achievements to date

Here are some of the exciting milestones reached by the Genomics England team:

• Sequenced over 15,000 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.
• 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.

Current vacancies

Scientific Curator –  No closing deadline

For more information about Genomics England, please go to: www.genomicsengland.co.uk