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NHS to sequence the genes of 10,000 patients

28 June 2010
Appeared in BioNews 564

A London NHS hospital has started sequencing the genomes of individual patients in order to gain a better understanding of the genetic factors involved in heart disease. Over the next decade, 10,000 patients at the Royal Brompton Hospital will have their 22,000 genes sequenced.

The sections of DNA being sequenced are collectively called 'the exome'. While only accounting for one per cent of the genome, the exome contains all of a person's genes and therefore most of the key information required for diagnosing inherited diseases, assessing disease risk and determining treatment response.

Professor Dudley Pennell, director of the Cardiovascular Magnetic Resonance Unit at the Royal Brompton Hospital, said that there will be 'clear benefits for patients, because we will be able to determine a genetic cause of their cardiac condition to allow accurate diagnosis and personalised treatment'.

The study comes just ten years after the publication of the first complete human genome sequence and has been made possible by the rapid advances in sequencing technology: the completion of the Human Genome Project took 13 years, and  the UK's Wellcome Trust Sanger Institute - the largest contributor to the groundbreaking project - can now fully sequence an individual's exome in only 13 hours.

Professor Mike Stratton, director of the Sanger Institute, believes we may now see the increasing application of more personalised medicine.

'The new therapies that are in development will be applicable to some people and not to others and the choice of therapies for individuals will be determined by what is present in their genome. That is going to be good for patients because they will get the right drugs for them, and good for the health service as they won't be giving the wrong drugs to the wrong patients'.

In addition to gene sequencing, all patients will undergo a MRI (magnetic resonance imaging) scan of the heart to assess the physical functioning. They will also receive extensive genetic counselling before their results are released, as the implications will affect not only the patient, but also their family.

Although the main aim of this scheme is to better understand the genetic causes of heart disease, the detailed mapping of an individual's genetic makeup may reveal risk factors for other genetic diseases, such as cancer. At present, only patients with a family history of heart disease are eligible for this scheme.

10,000 NHS patients to have genes decoded for pioneering heart disease project
Mail Online |  22 June 2010
Genes of patients mapped by NHS for first time
BBC News |  21 June 2010
Genes to Be Decoded in 10,000 NHS Patients for Initiating Hear Disease Project
TopNews |  22 June 2010
NHS patients have entire genome sequence mapped
The Telegraph |  22 June 2010
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