The UK has sequenced 100,000 whole genomes in the NHS

Pioneering 100,000 Genomes Project reaches its goal and thanks all involved

5 December 2018: Health Secretary Matt Hancock has today 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, 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 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:

“We are leading the world in genomics and this is a major milestone in 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 and enable patients to take greater control of their own health.”

Sir John Chisholm, Chair of Genomics England, said:

“At launch the 100,000 Genomes Project was a bold ambition to corral the UK’s renowned skills in genomic science and combine them with the strengths of a truly national health service in order to propel the UK into a global leadership position in population genomics. With this announcement, that ambition has been achieved. The results of this will be felt for many generations to come as the benefits of genomic medicine in the UK unfold.”

Professor Mark Caulfield, Chief Scientist at Genomics England, 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 National Institute for Health Research and the Government we will continue to ensure the UK’s global leadership in genomic healthcare.”

Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics at NHS England, said:

“This achievement has only been possible because of the amazing commitment and contribution of NHS teams across the country and I would like to thank each and every one of them for rising to this challenge and excelling in its delivery.

“The results, which will continue to be returned to patients, show how genomic medicine can transform lives, bringing quicker and better diagnoses and increasing the number of patients surviving cancer, and the opportunity now is for the NHS to turn this research into reality by introducing sequencing technology as part of our world-leading NHS Genomic Medicine Service.”

Jillian Hastings Ward, Chair of the National 100,000 Genomes Project Participant Panel, said:

“This is a fantastic milestone. Thanks to the dedication and hard work of the whole project team, patients and their families are starting to receive life-changing diagnoses. We look forward to seeing more results in the near future – for the rest of the project participants, and for the wider public who will soon benefit from genomic medicine in the NHS. We will also keep working with Genomics England to make sure they keep patients’ interests at the heart of all they do.”

Francis deSouza, President and CEO of Illumina, Inc., said:

“We congratulate Genomics England and the NHS for reaching this historic achievement and are honored to be part of it.  The accomplishment of the 100,000thgenome is only the beginning in many respects, but a significant step towards realizing the promise of genomic medicine to develop products for earlier detection and treatment of many rare diseases and cancers.”

James Fenton, Project Manager at the NIHR National Biosample Centre – the facility that stores and processes samples for the 100,000 Genomes Project – said:

“It has been a unique study to have been part of and a fantastic achievement on all fronts, really demonstrating that the UK is leading the way in genomic research towards personalised medicine. This milestone is testament to the hard work and dedication put in by all at National Institute for Health Research National Biosample Centre and our partners in Genomics England, the NHS GMCs and Illumina.”

About Whole Genome Sequencing

The human genome is comprised of 3.2 billion letters and is the blueprint for each of us. Genetic variation can cause rare disease and cancer, which is a disease of disordered genomes. The first human genome sequence in 2002 cost 3.2 billion US dollars. Due to technological and analytical advances we can now read the whole genome with accuracy that can bring new diagnoses to patients with rare disease and choose therapy in cancer. 

About Rare Disease

Rare inherited disease affects 5% of the UK.There are between 5,000 and 8,000 rare diseases affecting 3 million people in the UK. Approximately 50% of those suffering with rare disease will achieve a genomic diagnosis in their lifetime. One third of children affected by these disorders will die before their 5thbirthday and these conditions are often disabling, life shortening and costly for society and those affected.  The 100,000 Genomes Project focused on 1,200 disorders with diagnostic unmet need after usual care. The disorders included in the programme have been nominated by the NHS, researchers and industry. Today we return analyses that offer a potential diagnosis in one in four participants. However, in intellectual disability and eye disorders we are achieving 38% – 50% diagnostic yield. We will complete the first analyses of all whole genomes during 2019 and have committed to re-analyse all participants’ genomes where an answer has not yet been achieved. The NHS Genomic Medicine Service has included 22 conditions for whole genome sequencing in the National Genomic Test Directory across England.

About Cancer

Cancer affects four in ten people during their lifetime and there are 365,000 new cancer cases per year. Genomics can identify molecular signatures that drive the development of cancer and help choose therapies targeted to the genetic make-up of the cancer. In the 100,000 Genomes Project we optimised molecular pathology to supply fresh tissue across most cancers. We have identified genomic features that might be used to identify a trial opportunity or a therapy in the NHS for up to half the participants. At present four cancers have initially been included for whole genome sequencing in the new National Genomic Test Directory for the new National Genomic Medicine Service.

About Genomics England

Genomics England, a company wholly owned and funded by the Department of Health & Social Care, was set up to deliver this flagship project which has now sequenced 100,000 whole genomes from NHS patients. Its four main aims are: to create an ethical and transparent programme based on consent; to bring benefit to patients and set up a genomic medicine service for the NHS; to enable new scientific discovery and medical insights; and to kick-start the development of a UK genomics industry.