The 100,000 Genomes Project ran between 2014 and 2018. It was a landmark NHS England initiative, run by Genomics England.
More than 85,000 adults and children from across the UK volunteered to participate in the project by submitting a sample of their blood, saliva, or tissue for genomic testing. These were people with a rare disease, families of these people, and patients with cancer. More than 1,500 NHS staff and over 3,000 researchers were also involved.
Many people from the East Midlands and East of England contributed to this remarkable knowledge-gathering project, thanks to the coordination of the East of England NHS Genomic Medicine Centre.
In late 2018, the project announced that it had sequenced its 100,000th genome.
Thank you to all who participated. The 100,000 Genomes Project forms the foundation of the new NHS Genomic Medicine Service and as a result, your contribution to the project will have an impact on the health of millions of people for many years to come.
Why the 100,000 Genomes Project is significant
The first initiative of its kind anywhere in the world, the 100,000 Genomes Project is delivering life-changing information to thousands of people across the UK. Results of the project’s genomic testing mean:
- An estimated one in four participants with a rare disease is receiving a diagnosis for the first time.
- Almost half of participants with cancer are receiving information that may open up possibilities for clinical trials or targeted therapies. 2
The project is already informing new medical research. The combination of genomic sequence data with medical records at such a large scale is a historic step forward in the knowledge available to medical science, empowering the work of the NHS Genomic Medicine Service.
The 100,000 Genomes Project also marks the kick-start of a UK genomics industry. As the largest national sequencing project of its kind in the world, it places the UK as an international leader in the field.