Britain to sequence 100,000 whole genomes in the human body by 2017

Written By Unknown on Selasa, 23 Desember 2014 | 22.11

LONDON: In one of the world's most ambitious scientific endeavours, Britain has decided to sequence 100,000 whole genomes in the human body by 2017. An estimated 75,000 patients will be invited to donate their DNA for research into causes of rare diseases and cancers.

The National Health Service on Monday named the first 11 hospital trusts that will map DNA on a scale never before attempted. By the end of the project, about 100 other NHS trusts will be involved.

It is estimated that one in seventeen people are born with or develop a rare disease during their lifetime. At least 80% of rare diseases have an identified genetic component, with 50% of new cases of rare diseases being identified in children.

However, it can take considerable time and expense between a patient first presenting at a doctors and receiving an accurate diagnosis. The time taken to sequence a whole human genome has been dramatically reduced and will become more affordable for routine use as the price continues to fall.

Chief Medical Officer Professor Dame Sally Davies said the new project "will let us make ground-breaking discoveries about how diseases work".

"Earlier diagnoses will help to reduce uncertainty and stress for patients and families involved."

The 3-year project, launched by the prime minister David Cameron aims to improve diagnosis and treatment for patients with cancer and rare diseases.

NHS said "The project has the potential to improve our ability to predict and prevent disease. It may also lead to new and more precise diagnostic tests and the ability to more accurately personalise drugs and other treatments to specific genetic variants. It is anticipated that over 75,000 people will be involved, which will include some patients with life threatening and debilitating disease".

Life Sciences Minister George Freeman said "Our understanding of genomics is transforming the landscape for disease diagnosis and medicines research".

Professor Sir Bruce Keogh, NHS England's National Medical Director, said "This is an achievable ambition which positions Britain to unlock longstanding mysteries of disease on behalf of humankind".

Up to 25,000 cancer patients will have the genetic code of their healthy tissue compared to the genetic code of their tumour. This would allow targeted medicines to be developed.

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.

http://timesofindia.indiatimes.com/followceleb.cms?alias=Professor Dame Sally Davies,National Health Service,London,DNA,Britain

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