The 100,000 genome project is making headlines this week - for the first time, people with rare diseases have had their condition diagnosed as a result of unlocking their entire genetic code. With three billion pairs of letters in each code, arranged in a unique combination in every person, it has been an extraordinary journey to putting this knowledge to practical use. A simple saliva swab can now be used to sequence a person's entire genetic code.
It's great news for the three million people in the UK affected by rare diseases. By definition, each one affects only a tiny number of people, but there are more than 6,000 of them, with more being uncovered all the time. Many sufferers never get a diagnosis for their condition, which makes personalised treatment a huge challenge. If they do, it's often through having invasive tests like brain biopsies.
The problem is that so many rare diseases have many features in common, and some are so rare that doctors treating the patient have never seen a case or sometimes even heard of them. Then there are new variants of a rare disease, which don't tick all the boxes previously used to make a diagnosis. Deciphering a sufferer's entirely genetic code could, in the long term, mean an end to all that.
The 100,000 genomes project is funded by the Department of Health, and scientists at Newcastle Hospital and University are at the heart of trying to set up a database of 100,000 people with rare diseases and their families. It will make the UK a world leader in decoding our genetic codes - and hopefully in providing better care.
But it's not the only advance for patients announced this week. We have also seen a green light given to the first Proton Beam therapy centres in the UK, to treat NHS patients with particularly hard-to-reach cancers. Radiotherapy is already the second most successful treatment for cancer patients after surgery. But even current targeted radiotherapy techniques have to fire beams of light called photons through body tissue to reach the spot they're needed, and then keep going. This carries a risk of scarring and damage to surrounding tissues, especially when they're tucked away deep inside the brain. Children are especially sensitive to the side effects of radiotherapy, so finding safer options for them has been a priority.
Proton beams, by contrast, can be fired with pinpoint accuracy at a cancer and stop when they get to it. What's more, they release a burst of energy when they stop, meaning almost all their effect is concentrated on the tumour itself.
You may not be surprised to hear that this sort of therapy doesn't come cheap, and it isn't easy. The cyclotron needed to produce and fire the protons is the size of a car, but it weighs as much as a Boeing 747. It needs to be housed in a gantry the height of a three-storey house, with reinforced concrete up to 17 feet thick to protect it. The two centres chosen to host these centres, in London and Manchester, should be up and running by 2018.
But of more immediate help to some will be the announcement of the first drug to be made available on the NHS through the Early Access to Medicine Scheme (EAMS) - an initiative aimed at making promising unlicensed drugs available to severely ill patients, where waiting for full trials might be too late for them. The first drug, pembrolizumab, will be aimed at people with advanced cases of the skin cancer melanoma. Described in a Department of Health press release as 'a next generation drug in cancer care, stimulating the body's immune system to fight the disease', it's the first in what will probably be a series of cutting-edge medicines to help people with serious diseases - this one provided free to the NHS by its manufacturer. The future may not be here yet, but it's a lot closer from today.
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