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The University of Southampton

Southampton joins world-leading project to transform treatment of cancer and rare diseases

Published: 22 December 2014

The University of Southampton, in collaboration with University Hospital Southampton NHS Foundation Trust (UHS) and hospital partners, has been named one of 11 centres involved in a national genome project set to transform diagnosis and treatment for patients with cancer and rare diseases.

The Wessex NHS Genomic Medicine Centre, led by UHS, will help to deliver the Department of Health and NHS England's 100,000 Genomes Project.

The three-year £300 million initiative, launched by Prime Minister David Cameron earlier this year, involves collecting and decoding 100,000 complete sets of people's genes – the human genome – to help scientists and doctors understand more about specific conditions.

The 11 designated Genomic Medicine Centres (GMCs) in the project's first wave cover the North East and the North West coast, Manchester, Birmingham and the West Midlands, Cambridge and the East of England, London, Oxford, Southampton and the South Coast and Exeter and the South West Peninsula.

"This project has the potential to transform the future of healthcare and we are delighted many patients from across the south can be involved and will benefit from it," explained Professor Karen Temple , professor of medical genetics at the University of Southampton and co-lead for the Wessex NHS GMC.

"All the teams and individuals involved are ready to take on the big task of understanding what a genome can tell us and introducing genomes into clinical practice.

"It will improve the prediction and prevention of disease, enable new and more precise diagnostic tests and allow personalisation of drugs and other treatments to specific genetic variants."

It is anticipated that around 75,000 people will be involved, including some patients with life threatening and debilitating diseases. Recruitment to the project will begin from February.

With agreement, samples of tissue from tumours and bloods tests will be collected from patients receiving treatment at hospitals from around the Wessex region, which incorporates Hampshire, the Isle of Wight, Dorset, Wiltshire and parts of Sussex, Surrey and Somerset.

The samples will be sent securely to a centre run by gene sequencing specialists Illumina, who have been procured by Genomics England to sequence the whole genome and analyse it. The results will then be sent back to the Southampton centre to help clinicians make diagnostic and treatment decisions.

Prof Temple, who is also a clinical geneticist at UHS, added: "This means that, for some participating patients, there will be a conclusive diagnosis that can be reached for a rare and inherited disease that was not possible before. Treatment for cancer will now be targeted at the particular genetic changes that are present which will improve outcomes.

"For other patients, the benefit may take time while we understand what the genome can tell us about the influence of genetics on disease. The project will lead to an intensive research effort to understand more, which will involve close working between clinical staff and researchers."

Professor Sue Hill, the chief scientific officer for England and chair of the team which evaluated the various applicant GMCs, said: "The NHS has risen to both the challenge and opportunity of delivering its contribution to the 100,000 whole genomes project in the most extraordinary and unparalleled way.

"Locally in the NHS there has been clearly demonstrated engagement and involvement of senior managers, clinical teams, clinical genetic and molecular pathology laboratories and, critically, patients and the public, all committed to using the science of whole genome sequencing to making a real and lasting difference for patient benefit."

Professor Sir Bruce Keogh, NHS England medical director, added: "Embracing genomics will position us at the forefront of science and make the NHS the most scientifically advanced healthcare system in the world.

"This is the start of a unique, exciting journey that will bring benefits for patients, for the NHS and for society at large."

Faculty of Medicine

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