The 100 000 Genomes Project

On a recent visit to King’s College Hospital, I couldn’t help but notice a sign displayed in the corner of the corridor. Everyone knows hospital corridors are drab places, each one looks and smells the same, which is probably why the sign caught my eye so well.
Hospital patients now have the opportunity to make an impact on the future of health and medicine by donating blood samples to the 100 000 genomes project. Patients and their family members can donate samples of their blood to the project to help scientists expand on their knowledge of cancers and other more rarer diseases.

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The poster I spotted on a visit to hospital.

 


What is the 100 000 genomes project?
Back in 2003, scientists made a major breakthrough in human medicine through the publication of the human genome. The Human Genome Project was the largest collaborative project undertaken by thousands of scientists across the world. The human genome is unique to each individual and is made up of DNA, it can be read by establishing the genome letter by letter in a process known as sequencing. Thus, through projects such as the 100 000 genomes there is real scope for genetics to become a real game changer in medicine and more importantly could provide life changing and lifesaving treatment.
The project is being delivered by Genomics England, a company owned and funded by the Government’s Department of Health. The project itself was launched in 2012 by the then Prime Minister, David Cameron. The project is aimed at patients who have a rare disease and their families as well as cancer patients. The samples are being taken from suitable patients across England at the moment but there are discussions for the rest of the UK to become involved. So why is all this so important? Well, genomics can offer great advances in healthcare. It can be used to help determine how well an individual will respond to a particular treatment or it can be used to find the best form of treatment for them. In terms of rare diseases and cancer this can be so beneficial. For example, in the case of breast cancer, women can be tested to see how they will respond to the treatment, Herceptin. Genomics are useful in establishing how well a cancer will respond to a specific treatment. Potentially, this means an individual may not have to undergo as many radiotherapy treatments. The prospects involving genomics in medicine are promising.
The project is aiming to involve 75 000 people with around 53% being patients with serious illness and there has thus far been a promising response from patients and their families. If we look at rare diseases, around 80% of them are inherited and 50% of new cases are found in children. So, analysing the human genome of someone with a rare disease means that the cause of the disease may be identified or find new treatments for the disease. Benefits from the project are already being seen with some patients already receiving more specific treatments.
The posters which originally caught my eye in King’s are serving their purpose. The idea that we, as a public, can become involved in the future of our healthcare is a promising and reassuring feat. For those of us unfortunate enough to fall ill, there is some solace in the idea that we may be able to access personalised medicine to specifically target treatments programmes. Or there is also the potential for new treatments to be discovered or the causes of a particular disease to be identified.

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