19 July 2017

The Trust which runs Shropshire’s two acute hospitals is taking part in NHS England’s pioneering 100,000 Genomes Project.

Helen Moore, Clinical Trials Manager at SaTH, takes bloods as part of the 100,000 Genomes Project.

The government-funded programme will sequence 100,000 genomes – all the information in our DNA – to help improve treatment of rare diseases and cancer.

The Shrewsbury and Telford Hospital NHS Trust (SaTH), which runs the Royal Shrewsbury Hospital (RSH) and the Princess Royal Hospital (PRH) in Telford, is one of 17 acute NHS Trust’s working in collaboration with The West Midlands Genomic Medicine Centre (WMGMC). The WMGMC is one of 13 Genomic Medicine Centres in the UK established to deliver the 100,000 Genomes Project.

Samples of DNA are taken from consenting patients which are then sequenced to look for genes related to rare diseases, such as muscular dystrophy or those related to cancer. Scientists and medical professionals can then use this information to further their understanding of such conditions. Some patients may get a diagnosis where there previously wasn’t one as well as the potential for discovering individually targeted therapies.

Helen Moore, Clinical Trials Manager at SaTH, said: “We are inviting people who have a rare disease or a condition for which a cause or explanation has not yet been found, to take part in the 100,000 Genomes Project.

“So far we have more than 40 patients and their relatives taking part and hopefully through this project we will begin to understand why some people get ill and others don’t. We also hope to be able to provide a diagnostic for some patients with rare diseases and develop a genomic medicine service for the NHS that will support researchers to develop medicines, therapies and diagnostic tests.”

There are more than 4,500 participants already recruited to the project in the West Midlands, and although some patients with rare diseases may get a genetic diagnosis for their rare disease for the first time, many will not. It is most likely that the main benefit will be for patients with similar conditions in the future.

Helen added: “A person’s genome is all the genetic information in the body’s instruction manual. Some of a person’s genome is linked to that person but a lot is shared among relatives, and therefore learning more about genomes can identify the cause of genetic diseases and may help to improve treatments.

“The aim is to create a new genomic medicine service for the NHS, improving our understanding of diseases and their causes and transform the way patients are treated by moving to more targeted, personalised therapies.”

Nigel Capps, Consultant Chemical Pathologist and Director or Research and Innovation at SaTH, said: “We are delighted to be part of the ground-breaking project, a revolution that will put the NHS at the forefront of healthcare science.

“This is an important step forward for patients in our area and across the West Midlands region as genomics is key to the future of medicine and will hopefully act as the catalyst for the transformation of care throughout the NHS.”

More than half a dozen staff at SaTH have received training as part of the project, with Research Nurse Jo Stickley and Paediatric Nurse James Jones playing a key role in getting the project off the ground. The project is being championed by Helen Moore, Nigel Capps and Angela Loughlin (Research and Innovation Manager).

  • SaTH’s next Heath Lecture will be on the 100,000 Genomes Project. The lecture is being coordinated by Helen Moore and will take place at the Shropshire Conference Centre at RSH on September 14 at 6.30pm. The health lecture is free to attend but booking is essential. To book your place please contact SaTH’s membership office by emailing members@sath.nhs.uk or call 01743 261 473.