UK hits milestone of sequencing 100,000 whole genomes in the NHS
Health Secretary Matt Hancock has today announced that the 100,000 Genomes Project, led by Genomics England in partnership with the NHS, 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.
Genomics has the potential to enable doctors to identify people at risk of disease, help prevent it, and provide personalised treatments to give patients the best chance of recovery.
The 100,000 Genomes Project makes whole genome analysis available to patients in the NHS, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes.
The project has delivered life-changing results for patients, with one in four participants with a rare disease receiving a diagnosis for the first time and potentially actionable findings being provided 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.
Health Secretary Matt Hancock said: “Sequencing the 100,000th genome is a major milestone in the route to the healthcare of the future. From Crick and Watson onwards, Britain has led the world in this amazing technology. We do so again today as we map a course to sequencing a million genomes. Understanding the human code on such a scale is part of our mission to provide truly personalised care to help patients live longer, healthier and happier lives.
“I’m incredibly excited about the potential of this type of technology to unlock the next generation of treatments, diagnose diseases earlier, save lives and enable patients to take greater control of their own health.”
The NIHR has supported the 100,000 Genomes Project by providing funding, helping to recruit participants and storing biological samples.
The NIHR led the pilot for the rare diseases element of the project, by recruiting people with rare diseases through the NIHR BioResource (the GeL study for Rare Diseases), and has recruited people with rare diseases or cancer through the NIHR Clinical Research Network.
Professor Chris Whitty, Chief Scientific Adviser for the Department of Health and Social Care, said: “The NIHR has been instrumental in supporting the 100,000 Genomes project since its launch, providing £250 million of funding, undertaking a pilot involving 12,000 people with rare diseases from the NIHR BioResource, recruiting participants across the NHS, and storing samples at the NIHR National Biosample Centre. With the project reaching its ambitious target of sequencing 100,000 genomes, researchers now have an unparalleled resource with which to study the genetics of rare diseases and cancer to help develop new treatments for patients.”
Professor Mark Caulfield, Chief Scientist at Genomics England and director of NIHR Barts Biomedical Research Centre, said: "The sequencing of 100,000 whole genomes marks an extraordinary UK achievement that is transforming the application of genomics in our NHS. Genomics England will continue to analyse these genomes alongside life course clinical information to reveal answers for as many participants as possible and improve their NHS care. With the generous support of our participants, the NHS, the NIHR and the Government we will continue to ensure the UK’s global leadership in genomic healthcare.”