A new genetics project could help “unlock a series of secrets about devastating diseases”, the NHS says. Under the scheme, 11 Genomics Medicine Centres are being set up in English hospitals to gather DNA samples to help devise targeted treatments for a wide range of diseases. It is focusing on cancer and rare genetic diseases.
The aim is to sequence 100,000 genomes within three years in order to develop new tests and drugs. Doctors will offer suitable patients the opportunity to take part in the scheme. They will have to agree to have their genetic code and medical records – stripped of anything that could identify them – made available to drugs companies and researchers. Up to 25,000 cancer patients will have the genetic code of their healthy tissue compared to the genetic code of their tumour. A giant game of spot-the-difference will then take place to identify the precise mutations in DNA that are causing a patient’s tumour. This would allow targeted medicines to be developed.
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 and life expectancy and each needing a different treatment. And the development of targeted drugs such as Herceptin – given only if a patient’s breast tumour has a certain mutation – has been possible because of genetics research. Meanwhile, 15,000 patients with rare diseases will have their genome compared with those of their parents and grandparents. Thousands of genetic diseases – which are individually rare but combined affect large numbers of people – could be identified by finding mistakes in the three billion pairs of letters that make up our genetic code.
The resulting knowledge could give patients an explanation for a disease that has plagued their entire life.
Prof Graeme Black, who will lead the project in Manchester, told the BBC: “It’s possible to sequence an individual’s entire genetic make-up, their genome, in merely a few days where five years ago that was completely unimaginable.
“Therefore it’s possible for conditions where there’s a possibility that it’s genetic, that we can identify genetic causes much quicker than had been imagined previously.”
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 in a gene 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.