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100,000 Genome Project

1 August 2014

A project aiming to revolutionise medicine by unlocking the secrets of DNA has been announced today by the Prime Minister

The four year project will allow scientists to do new research to decode 100,000 human genomes – a patient’s personal DNA code.


Thousands of NHS patients are to be invited to donate their DNA for research as part of a project that aims to make the use of genetic data routine in the health service. 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 aim is to reach 1,000 by the end of the year and 10,000 by the end of 2015.

Cancer is one of the main areas the project will focus on. Cancer is caused by mutations in DNA that cause cells to divide unchecked. Cancer patients will have DNA from healthy and cancerous tissues read so that doctors can work out which mutations are driving the growth of their tumour cells. The information could help medical teams decide which drugs will be most effective in a patient, but will also identify groups for targeted trials of new therapies. Targeted therapies could make chemotherapy "a thing of the past". Some precision drugs that target particular mutations are already available, like the melanoma drug vemurafenib.

Previous genetics research has shown how different cancers can be, each with a different cause, life expectancy and needing a different treatment.

Prof Jeremy Farrar, director of the Wellcome Trust, said: "I can see a future where genetics is going to come into every bit of medicine from cardiology to oncology to infectious diseases."

He said there were already targeted therapies for some breast, lung, bowel and blood cancers.

"Twenty years from now there's going to be a plethora of those; we will have a series of mutations which academics and industry will have developed therapies for, which will be targeted at you and specific for that cancer."

He said chemotherapy, which attacks all dividing cells in the body, would be replaced with such therapies.

Advances in this area could be significant for improving treatments for pancreatic cancer patients as pancreatic cancer quickly develops resistance to traditional chemotherapy treatments. Also, pancreatic cancer tumours are genetically diverse, often showing mutations in dozens of different genes.   Current chemotherapy treatments, when used in a ‘one-size fits all’ approach, are at best modestly effective, yet are associated with improvement in small groups of undefined patients. Defining these subgroups through the identification of common mutated genes and targeting them with the appropriate therapy in a personalized approach holds the promise of improved outcomes for this disease.

PCRF-funded research at University of Manchester is investigating ways to monitor the effectiveness of such targeted treaments on each patient from a simple blood test, eliminating the need for difficult and often painful biopsies.

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