The 100,000 Project

The result of decades of intensive research into the causes of cancer has started to come to fruition in the last few years. In 2009, on publication of the first complete genome of a cancer cell, it became clear that no two cancers of any class or location were alike. Immense chaos in cancer cell DNA and the significant molecular differences between cancer cell types led to the interpretation that cancer could be considered as ten simultaneous diseases rather than one size-fits-all classification. The gold standard ideal for cancer therapy is the so-named ‘personalised medicine’, the principal being that therapies should be able to be tailored to an individual patient’s needs. This dream is part of the driving force of a current project being led in Manchester known as the ‘100,000 Genomes Project’.

The project aims to sequence 100,000 genomes of patients in England with cancer and rare genetic diseases by 2017.

As part of the government’s drive to make the UK a leading hub for science and technology, and in combination with the NHS’ 65th birthday celebrations, the secretary of state for health, Jeremy Hunt, announced in 2013 the project that aims to sequence 100,000 genomes of patients in England with cancer and rare genetic diseases by 2017. This is consistent with other investments such as that into the ‘super-material’ graphene in 2012. Professor Graeme Black leading the project from Manchester described it as being ‘Part of a revolution in diagnosis and treatment of inherited disease’. The National Health Service is aiming to become the most advanced scientific healthcare system in the world and is rolling out 11 centres for genomic medicine which will attempt to fulfill the project including Cambridge, Southampton and Imperial College University hospitals. Whilst the other principalities of Scotland, Ireland and Wales have abstained from involvement, it is hoped that this initial number of centres will rise, eventually covering the whole of England.

The original Human Genome Project, completed in 2003, took a decade of work and £1 billion in funding to code one genome. The strides that this initial project made meant that it now costs less than £1000 to sequence genomes, which aids short-term tailoring of treatment. In the long term, this project hopes to determine patterns that mean more intelligent medications can be developed more rapidly. To date more than 3,000 genomes have already been sequenced and with the opening of the new centres, this number is expected to increase dramatically.

‘Anybody who says they can protect the privacy of your genomic data by anonymising it is mistaken’.

Initially up to 25,000 cancer patients will voluntarily have their healthy tissue compared in order that more precise mutations can be pinpointed which can help in developing targeted medication. 15,000 further patients with rare genetic diseases will have their genomes compared with that of their parents and grandparents. Doctors will offer suitable patients the opportunity to participate in the scheme they must first agree to their genetic code and medical records potentially being used by drug companies and researchers. Fortunately these will be stripped of elements which could be used to identify them. In theory this should alleviate ethical problems associated with the project, but may well still make many potential donors uncomfortable. Ross Anderson of Cambridge University stated ‘Anybody who says they can protect the privacy of your genomic data by anonymising it is mistaken’. The academic debate is ongoing as to its total worth but the excitement of its potential for many is palpable.

The Guardian reported that Prime Minister David Cameron hopes to extend the project beyond 2017 in order to target as many diseases as possible. Targeted treatments are also already becoming available, and with good results. Dr Harpel Kumar, the chief executive of Cancer Research UK commented: ‘Some targeted treatments such as imatinib for chronic leukaemia are already helping to treat patients more effectively’. Clearly the attempt to develop more, similar treatments will only move to benefit this cause. The challenge still remains to root the research into standard health practices but this project is undoubtedly a step forward in improving the survival rate for a disease that blights the lives of millions every day.

Stephen Kenny

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