The 100,000 Genomes Project - what's it all about?

Posted on 27 November 2015 (Permalink)

Ever typed ‘100,000’ into your Google search bar? You may be surprised to see the 100,000 Genomes Project come first. 

The initiative involves collecting and decoding 100,000 human genomes – complete sets of people’s genes – that will enable scientists and doctors to understand more about specific conditions, and the project is a major component of WMAHSN's advanced diagnostics, genomics and precision medicine priority

Here Professor Sue Hill, NHS Chief Scientific Officer for England, explains how the project is driving real transformation by bringing 21st century medicine to the NHS.

What is the 100,000 Genomes Project about?

In a nutshell, it’s a national project to transform healthcare for the future that allies cutting edge science and technology, clinical care and research. By the end of 2017, the project is aiming to sequence 100,000 whole human genomes (all the information in our DNA that make us who we are) from around 70,000 people.

What’s the vision?

Understanding DNA and how it can predict and prevent disease, provide a precise diagnosis and direct targeted treatment will soon play a role in every aspect of medicine, from cancer to cardiology. We want to become the first country to introduce whole genome sequencing as a mainstream part of our national healthcare system. Better understanding genomics will help us transform how we care for patients, from one-size-fits-all to one-size-fits-one.

How does it work?

The project is focusing on patients with rare diseases and their close relatives and patients with cancer. It’s a collaborative project: NHS England is developing the delivery infrastructure in the health service via NHS Genomic Medicine Centres. Genomics England is co-ordinating the sequencing and interpretation capacity and capability and focusing the parallel research and life sciences industry endeavours in the UK and abroad. Health Education England is tasked with the upskilling of all healthcare professionals. Alongside this, Public Health England is looking at how genomics can help in the battle against infectious disease, while the Department of Health provides stewardship of the Project and leads on the wider genomics policy.

What are NHS Genomic Medicine Centres?

In 2014, NHS England designated the first 11 NHS Genomic Medicine Centres (GMCs) across England (with more coming in the New Year). Each covers a distinct geography of about 3-5 million people and consists of a lead organisation (a Trust) working as a network with other partner organisations in their area (local delivery partners) to a tightly defined service specification to ensure consistency, quality and comparability.

Where can I find out more?

  • Talk to a member of the WMAHSN team, which is based at the Institute of Transaltional Medicine at Queen Elizabeth Hospital in Birmingham. Please email and a member of the team will be happy to help.
  • Take a look at the story of six-year-old Maddison, who has a rare disease. She is taking part in the project at the Wessex NHS Genomic Medicine Centre.
  • Genomics England’s website has a host of information for patients and the public. 
  • Interested in genomics education and training for NHS staff? Please visit Health Education England's website.
  • Keep up to date with the project by following @GenomicsEngland and  @genomicsedu. Tweet or RT using the #Genomes100K hashtag.