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News & Media

Media Release

Date: 7 December 2018

Genomes project hits 100,000 target

Staff at the Royal United Hospitals Bath NHS Foundation Trust are celebrating the part they played in the nationwide 100,000 Genomes Project, which has announced that it has reached its ambitious target of sequencing, or mapping, the genetic makeup of 100,000 NHS patients. The Trust was part of the West of England Genomic Medicine Centre (WEGMC), one of 13 such GMCs, which has contributed more than 4,000 whole genome samples taken from consenting patients and family members.

The pioneering 100,000 Genomes Project was set up in 2012 with the goal of harnessing whole genome sequencing technology to improve diagnosis and treatment of patients with rare inherited diseases and cancer. The aim was to make the UK a world leader in genomic medicine within five years.

Pat Nagle, Project Lead for the RUH Genomics Team, said: "This was the most ambitious project of its kind, anywhere in the world, and the RUH has played a significant role. The project is already delivering real benefits to patients and is a precursor to genomic testing becoming part of mainstream medicine in the NHS.

"We are particularly grateful to our specialist nursing staff for their efforts in obtaining consent from around 400 patients with cancer or a rare disease, and we would like to thank all those patients for taking part in such an important project.

"We have already seen some exciting results. One patient was identified as having a genomic marker that will allow family members to be tested to highlight their risk of developing the same condition. While results may not always help a patient themselves, the results of analysis could help to revolutionise the treatment and prevention of cancer and other diseases in the near future."

Professor Mark Caulfield, Chief Scientist for Genomics England, said: "Everyone who has worked in or with NHS GMCs can take enormous pride as we reach 100,000 genomes. Building on the learning and transformation from NHS GMCs, it places the NHS at the leading edge of global genomic medicine and research – and promises to enhance the diagnosis and treatment of disease for millions of people in the coming years. We may be at the end of 100,000 Genomes Project, but are only at the beginning of the genomics revolution."

The West of England Genomic Medicine Centre members are the RUH Bath, North Bristol Trust, University Hospitals Bristol and Gloucestershire Hospitals

Notes to Editor
  • The Royal United Hospitals Bath NHS Foundation Trust provides acute treatment and care for a catchment population of around 500,000 people in Bath, and the surrounding towns and villages in North East Somerset and Western Wiltshire. The hospital provides healthcare to the population served by four Clinical Commissioning Groups: Bath & North East Somerset CCG, Wiltshire CCG, Somerset CCG and South Gloucestershire CCG.
  • The Trust has 759 beds and a comprehensive range of acute services including medicine and surgery, services for women and children, accident and emergency services, and diagnostic and clinical support services.
  • In 2015 The Royal United Hospitals NHS Foundation Trust acquired the Royal National Hospital for Rheumatic Diseases (RNHRD) NHS Foundation Trust. The RNHRD treats patients from across the country offering services in rheumatology, chronic pain, chronic fatigue syndrome/ME, cancer related fatigue and fatigue linked to other long term conditions such as multiple sclerosis.
  • The RUH is changing - we have an exciting programme of redevelopment underway transforming our site and further improving the services we provide. The Trust is building a purpose built RNHRD and Therapies Centre and is now working towards a new Dyson Cancer Centre. For more details visit:

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