1 August 2014
Last updated at 00:01
Just one human genome contains more than three billion base pairs – the building blocks of DNA
A 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”.
They argue that understanding DNA will soon play a role in every aspect of medicine from cancer to cardiology.
Tumours are caused by mutations in DNA which lead to abnormal cells growing unchecked.
Advances in genetics have shown that breast cancer is not one disease but at least 10 – each with a different cause, life expectancy and needing a different treatment.
Targeted drugs exist such as Herceptin, which is given only if a patient’s breast tumour has a certain mutation.
The four-year 100,000 genomes project, run by Genomics England, which was set up for the purpose, is aiming to make such breakthroughs on a massive scale.
Genetics is furthering the understanding of breast cancer
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 passed the 100 mark, with the aim of reaching 1,000 by the end of the year and 10,000 by the end of 2015.
Just one human genome contains more than three billion base pairs – the building blocks of DNA.
It is by looking for subtle differences between genetic codes which lead to disease that researchers believe can fuel the next big breakthroughs.
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.
Edward Sherley-Price’s daughter has a rare genetic disease
Fifteen thousand families with rare diseases will take part in the project.
Edward Sherley-Price has first-hand experience of just how little is known about some conditions.
His 11-year-old daughter Alysia has regular seizures.
She was diagnosed with a developmental delay before her second birthday, but the cause was unknown.
It took until 2013 for genetic testing to discover what was wrong – a rare genetic mutation known as STXBP1.
The family say getting a diagnosis has given them a renewed sense of optimism.
The 100,000 Genomes Project could help people like Alysia by identifying a specific mutation, which lead to taking part in future drug trials.
Sir John Chisholm, executive chair of Genomics England, said: “In Britain we were the discoverers of the structure of DNA, we were huge players in the human genome project and now the time has come for the next major step forward.
“One hundred thousand sequences is a very large step; it’s a huge commitment.”
Genomics England will be based at the Wellcome Trust Sanger Institute in Cambridge, which is already a world-recognised centre of genetics research.
‘Every bit of medicine’
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.
“We will look back in 20 years’ time and think that the thought of blockbuster chemotherapy [as] a thing of the past and we’ll look back with historical eyes and think ‘Gosh, what an era that was’.”
By James Gallagher, Health Editor BBC News website
A revolution is taking place in genetics.
The human genome project took more than a decade, an international team of researchers and around £2bn to sequence an entire genetic code.
Now it can take one machine a couple of days and costs around £1,000.
It means some of those dreams of using our genetic code in healthcare are starting to become reality.
It will soon be practical and affordable enough to have your DNA sequenced as part of a diagnosis.
But what about the treatment? For now there are few targeted drugs like Herceptin out there.
It will take projects like this to help academia and industry find the drugs, which mean DNA sequencing can not just identify the problem, but save our lives as well.
David Cameron has announced a series of investments across government, industry and charities totalling £300m.
He said: “This agreement will see the UK lead the world in genetic research within years.
“I am determined to do all I can to support the health and scientific sector to unlock the power of DNA, turning an important scientific breakthrough into something that will help deliver better tests, better drugs and above all better care for patients.
“I believe we will be able to transform how devastating diseases are diagnosed and treated in the NHS and across the world.”
NHS England chief executive Simon Stevens said: “The NHS is now set to become one of the world’s ‘go-to’ health services for the development of innovative genomic tests and patient treatments, building on our long track record as the nation that brought humanity antibiotics, vaccines, modern nursing, hip replacements, IVF, CT scanners, and breakthrough discoveries from the circulation of blood to the existence of DNA.”