Health Secretary Matt Hancock has announced that the 100,000 Genomes Project, led by Genomics England in partnership with NHS England, has reached its goal of sequencing 100,000 whole genomes from NHS patients.
This ground-breaking programme was launched by then-Prime Minister David Cameron in 2012, with the goal of harnessing whole genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer. The task was to make the UK a world leader within five years.
The 100,000 Genomes Project has delivered life-changing results for patients with one in four participants with rare diseases receiving a diagnosis for the first time, and providing potential actionable findings in up to half of cancer patients where there is an opportunity to take part in a clinical trial or to receive a targeted therapy.
To do this Genomics England worked with NHS England to create 13 NHS Genomic Medicine Centres (GMCs) to support the project, a state-of-the-art sequencing centre run by Illumina, Inc. and an automated analytics platform to return whole genome analyses to the NHS.
Genomics England and NHS England are extremely grateful to the 85,000 participants, 1,500 NHS staff, over 3,000 researchers, the National Institute for Health Research and the UK Government whose support and funding have been key to the success of this pioneering NHS transformation programme.
As a result the UK has become the first nation in the world to apply whole genome sequencing at scale in direct healthcare, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes.
The project has laid the foundations for a NHS Genomic Medicine Service, which will provide equitable access to genomic testing to patients across the NHS from 2019.
Health Secretary Matt Hancock said:
Sir John Chisholm, Chair of Genomics England, said:
Professor Mark Caulfield, Chief Scientist at Genomics England, said:
Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics at NHS England, said:
Jillian Hastings Ward, Chair of the National 100,000 Genomes Project Participant Panel, said:
Francis deSouza, President and CEO of Illumina, Inc., said:
James Fenton, Project Manager at the NIHR National Biosample Centre – the facility that stores and processes samples for the 100,000 Genomes Project – said: