New £500,000 ‘Gene Machine’ System Launched
 
A NEW £500,000 ‘Gene Machine’ system to diagnose patients with rare and inherited diseases faster transforming the study of genetics in Sheffield is being launched today (Friday June 14).

The Next Generation Sequencers at The Children’s Hospital, Sheffield are two of around 15 at NHS trusts able to screen 100 genes at once for mutations.
 
They have been funded by The Children’s Hospital Charity thanks to the generosity of the charity's supporters.

It means tests done on children and adults with suspected genetic disorders can now be returned within two weeks instead of taking up to a year. 

Dr Ann Dalton, consultant clinical director of Genetics at Sheffield Children’s NHS Foundation Trust, said: “We’re delighted to be launching the new Next Generation Sequencers today. 

“This is going to revolutionise genetic science immediately for our patients. The first stage for us as a hospital Trust is to cut waiting times for test results. Before we could only test one gene at a time but now we can test up to 100 together.

"This will mean a lot to some of our patients waiting on a confirmed diagnosis or changes in treatment.”

The Trust will also be collaborating with other organisations like the Universities to discuss how the facility can help them in their work. It can help researchers understand more about many areas of biology, for example diseases in animals and plants.

”What makes us unique from the majority of the other facilities in the country is that we have an excellent system built around the sequencer, including robotic machines,” Dr Dalton added.

“This allows us to fully process a sample and produce everything the scientist needs thanks to our in house experts who interpret the data and generate clinically relevant reports.” 

Funded by The Children’s Hospital Charity, the new technology is based in the laboratories at The Children’s Hospital, Sheffield and can test DNA from any living organism. 

Currently, to test for a genetic condition a blood sample would be taken from the patient and processed by the current Sanger Sequencing one gene at a time depending on which one was suspected of being faulty by the patient’s consultant.

To find an accurate diagnosis for the cause of illness it could take up to a year to test all the appropriate genes.

The new Sequencer allows up to 100 genes to be tested and the results will be assessed and back to the patient within a maximum of eight weeks. 

Darren Grafham, head of laboratory services for genetics at Sheffield Children’s NHS Foundation Trust, has been working on the first phase of testing for patients suspected of having Glycogen Storage Diseases (GSDs), a set of serious but treatable metabolic disorders.

“We are very excited to have this technology in our lab now and to begin to apply this in a clinical setting,” he said.

“The patients who will benefit are those with conditions such as McArdle disease, where they have symptoms but it is unclear what the cause might be. 

“The GSDs can be caused by gene mutations that affect different tissues: the liver, muscles, or the heart. This new technology allows us to test the many genes that may cause the disease all at once instead of one at a time speeding up the process.”

The charity funded technology will eventually be used to test for a wide spectrum of diseases including connective tissue disorders, inherited diseases like some cancers and for newborn screening. This will be developed with health professionals over the coming months.

Sheffield based Westfield Health contributed £50,000 towards The Children’s Hospital Charity’s fundraising for the equipment.
 
David Vernon Edwards, director of The Children’s Hospital Charity, said: “This state of the art equipment has the potential to make such a massive difference to the lives of the hospital’s young patients and their families – we’re so proud to be a part of such a fantastic project and we’re so grateful to our supporters for their incredibly generous contributions.”

Graham Moore, chairman of Westfield Health, said: “As long standing supporters of The Children’s Hospital Charity we are delighted to have made this donation. We are so lucky to have such a wonderful Children’s Hospital in Sheffield and I am sure the new equipment will make a huge difference to patients’ lives.” 

Yorkshire Cancer Research has also committed considerable funding to upgrade the facility once new technology becomes available, so that cancer genomes can be characterised in fine detail.

Kathryn Scott, head of research funding at Yorkshire Cancer Research, said: “The charity is delighted to be involved in this initiative and has worked with both the University of Sheffield and The Children’s Hospital to ensure this facility is supported into the future. 

“This technology moves incredibly quickly and it is essential to ensure the facility is future-proofed so it continues to deliver maximum patient benefit and research capability.”