Genomics England launched, mapping DNA to better understand cancer, rare and infectious diseases

To coincide with the announcement of plans to make the NHS a personal service for every patient to mark the 65th birthday of the NHS on Friday 5th July 2013, Genomics England was launched by the Department of Health (DH) as part of the government’s drive to introduce high-tech DNA mapping for patients. The DH has initially prioritised sequencing of lung and paediatric cancer, rare diseases and infection diseases.

This follows the announcement by Prime Minister David Cameron last December that the personal DNA code – known as a genome – of up to 100,000 patients or infections in patients will be sequenced over the next five years . It is hoped that this will improve understanding, leading to better and earlier diagnosis and personalised care.

The project will be run by Genomics England  an organisation entirely owned by DH. Genomics England will manage contracts for specialist UK-based companies, universities and hospitals to supply services on sequencing, data linkage and analysis. It will set standards for obtaining patient’s consent and also strictly manage storage of personal data in accordance with existing NHS rules designed to securely protect patient information.

It is estimated that up to one in 17 people is born with or develop a rare disease during their lifetime. At least 80 per cent of rare diseases have an identified genetic component, with 50 per cent of new cases of rare diseases being identified in children. However, it can take considerable time and expense between a patient first presenting to a doctor and receiving an accurate diagnosis. The time taken to sequencing a whole human genome has been reduced to one to two weeks and will become more affordable for routine use as the price continues to fall.

Among the key aims of this initiative, the Government hopes it will lead to ground-breaking discoveries about how diseases work, who may be susceptible to them, how they can be treated, and what treatments might work – including personalised/stratified medicines and result in faster diagnosis of conditions thereby reducing uncertainty and stress for patients and families involved.

The full statement from the DH on the launch of Genomics England can be read here.

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