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RD&E and North Bristol NHS Trust join forces to deliver cutting-edge genomics testing for patients

A new South West Genomic Laboratory Hub has been announced as one of only seven hubs that will deliver genomic testing for patients with cancer or rare disease as part of a new national network.

The Royal Devon & Exeter NHS Foundation Trust will work in partnership with North Bristol NHS Trust to provide potentially life-changing diagnosis and move towards a more personalised approach to treatment. The Exeter Genetics Laboratory is one of three designated providers of specialised endocrine tests for patients throughout England and the national centre for monogenic diabetes and hyperinsulinism testing. Our flagship rapid whole exome sequencing for patients with rare disease will be upgraded to whole genome sequencing.

Matt Hancock, Health and Social Care Secretary, announced that from early 2019 whole genome sequencing will be made available to seriously ill children with a suspected genetic disorder and people with specific types of cancer. The work will build on the 100,000 Genomes Project that is sequencing the genomes of around 70,000 people (100,000 patient samples) by the end of 2018.

Professor Sian Ellard, Head of the Exeter Genetics Laboratory and Director of the South West NHS Genomic Medicine Centre, said:  “We look forward to working with our colleagues in Bristol to provide cutting-edge genomic testing for patients throughout the South West and beyond. Now we are able to begin a true transformation that will support more personalised medicine for patients with cancer and rare diseases in the South West and beyond.

“It is very exciting to be a part of this – we are proud that our long standing expertise in genomics research and diagnostic services has been recognised.”

Dr Emma Kivuva, Lead for the Peninsula Clinical Genetics Service, said: “We are delighted that our excellent laboratory has been selected to form one of the seven Genomic Laboratory Hubs. This new genomic testing will mean many more people with rare conditions can receive a diagnosis and more quickly. This will enable patients and families to receive more accurate information and be offered appropriate choices about their care and treatment.”

Mr John McGrath, RD&E Consultant Urologist and Deputy Director of the South West Genomics Medicine Centre, said: “We know that individual patients as well as individual cancers can vary in how they respond to the conventional treatments that we offer. We have now begun a new era in healthcare where cancer treatments will increasingly be tailored to that specific patient.

“The goal is to ensure that each patient accesses the treatment that is most effective for them and, in some cases, actually avoid treatments that are not going to be effective in their own situation.”

Dr Eileen Roberts, Head of the Bristol Genetics Laboratory based at North Bristol NHS Trust, said: “This means we will be supporting more personalised medicine for patients with cancer and rare diseases in the South West and beyond. Treatments will be more tailored and effective to each individual’s own disease profile. Also in some cases patients will be able to avoid aggressive treatments that may be of no benefit.”



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