About Genomics England
Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy , through the sequencing of 100,000 genomes.
Genomics England is a company owned by the Department of Health and was set up to deliver the 100,000 Genomes Project. This flagship project will sequence 100,000 whole genomes from NHS patients by 2017.
Genomics England has four main aims:
- to bring benefit to patients
- to create an ethical and transparent programme based on consent
- to enable new scientific discovery and medical insights
- to kickstart the development of a UK genomics industry
The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers. The project is currently in its pilot phase and it is expected that a lot will be learnt during this time to inform the next stages.
Genomics England was announced by Jeremy Hunt, Secretary of State for Health, as part of the NHS 65th birthday celebrations on 5 July 2013.
He said: “The NHS has a long track record as a leader in medical science advances and it must continue to push the boundaries by unlocking the power of DNA data.
“The UK will become the first ever country to introduce this technology in its mainstream health system – leading the global race for better tests, better drugs and above all better, more personalised care to save lives.
“Genomics England will provide the investment and leadership needed to dramatically increase the use of this technology and drive down costs.”
Genomics England will be efficient, flexible, and able to move quickly as the market changes. It will contract with others for most of its needs including sample collection, analysis and data storage but crucially, it will maintain clear responsibility for data protection.
Genomics England will manage contracts for specialist UK-based companies, universities and hospitals to supply services on sequencing, data linkage and analysis. It will also strictly manage secure storage of personal data in accordance with existing NHS rules designed to securely protect patient information.
Genomics England is funded by the Department of Health in the medium term, and any surplus will be invested back into improving health. It is chaired by Sir John Chisholm, former chair of the Medical Research Council.
Sir John said:
“This project represents a great opportunity to translate our world class genomic science into world leadership in genomic medicine. Genomics England will create a dataset of anonymised whole genome sequences matched with clinical data at a scale unique in the world.
“Participating patients will have the opportunity to benefit from clinical insights derived from the sequencing of their genome while at the same time contributing to knowledge which will be valuable to the whole patient community. It is from that knowledge that world leading therapeutic products and processes will become available to all patients.”
It is estimated that one in seventeen people are born with or develop a rare disease during their lifetime. At least 80% of rare diseases have an identified genetic component, with 50% of new cases of rare diseases being identified in children. However, it can take considerable time and expense between a patient first presenting at a doctors and receiving an accurate diagnosis. The time taken to sequence a whole human genome has been dramatically reduced and will become more affordable for routine use as the price continues to fall.
Chief Medical Officer Professor Dame Sally Davies said:
“By putting firm foundations in place through Genomics England, this technology will let us make ground-breaking discoveries about how diseases work, who could be susceptible to them, how we can treat them, and what treatments might work.
“Earlier diagnoses will help to reduce uncertainty and stress for patients and families involved.”
Professor Mark Caulfield is the chief scientist for the company. Mark is a NIHR Senior Investigator at the Queen Mary University of London and the Barts National Institute for Health Research Biomedical Research Unit.
How it will work
The core purpose of the project is to deliver benefit to the community at large, both in terms of health and future wealth, and at the same time feeding back appropriate insights to the clinicians treating participating patients.
The Board of Genomics England will be advised by an Ethics Committee which will pick up from the good work done by the Working Group commissioned by the Chief Medical Officer.
The Ethics Committee will be very active in collecting feedback and listening carefully to those taking part and the wider community.
Although the advantage in developing this project is the integrated health system, the project will encourage a range of clinicians and NHS organisations to be involved.
It is hoped that as the data set grows, it will become a tool of significant value.
Click here for more information about our Board members.