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Genomics England and the 100,000 Genomes Project

Genomics-England-logo21A project aiming to revolutionise medicine by unlocking the secrets of DNA is under way in centres across England. Prime Minister David Cameron has said it “will see the UK lead the world in genetic research within years”. The first genetic codes of people with cancer or rare diseases, out of a target of 100,000, have been sequenced. Experts believe it will lead to targeted therapies and could make chemotherapy “a thing of the past”. Just one human genome contains more than three billion base pairs – the building blocks of DNA.

This four-year project which will look at 100,000 genomes is being run by Genomics England,. The 100,000 Genomes Project is not simply a research project, nor is it a new way of caring for patients, or a transformation project to use genomic medicine to change how patients are treated in the NHS.  It is all of these things.

Pilots have been set up at centres across England – including sites in Newcastle, Cambridge and London – and the first genome was sequenced on 30 May. The project has now passed the 100 genome mark, with the aim of reaching 1,000 by the end of the year and 10,000 by the end of 2015. The genome of a patient’s tumour will be scoured for differences with the genetic code of their healthy tissue. People with rare diseases, usually children, will have their DNA compared with that of close relatives. University scientists and a drug companies will be allowed to access the data for their research. They argue that understanding DNA will soon play a role in every aspect of medicine from cancer to cardiology.

Cancer is one of the main areas the project will focus on. Tumours are caused by mutations in DNA which lead to abnormal cells growing unchecked.  Previous genetics research has shown how different cancers can be – for example that breast cancer is not one disease but at least 10 – each with a different cause, life expectancy and needing a different treatment.  And the development of targeted drugs such as Herceptin, only given if a patient’s breast tumour has a certain mutation – has been possible because of genetics research.

Also included in the package announced today:

  • £27 million from the Wellcome Trust for world-class sequencing hub at its Genome Campus near Cambridge. This will house Genomics England’s operations alongside those of The Wellcome Trust Sanger Institute
  • £24 million from the Medical Research Council towards data analysis and security
  •  NHS England has agreed to underwrite an NHS contribution of up to £20 million over the life of the project

Genomics England anticipates that around 40,000 NHS patients could benefit directly from the research and that this work will pave the way for genomics-based medicine to become part of everyday practice throughout the NHS.


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