Patients with rare diseases can be diagnosed months quicker thanks to a new £500,000 ‘gene machine’ system in Sheffield.
The Next Generation Sequencer at Sheffield Children’s Hospital – one of just a few in the country – has been paid for thanks to supporters of the hospital charity.
It means DNA tests for genetic disorders can now be returned in two weeks – rather than taking up to a year.
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 proud to be a part of such a fantastic project and are so grateful to our supporters for their incredibly generous contributions.”
The new sequencer allows up to 100 genes to be tested at the same time for mutations.
Previously, blood sample testing of one gene at a time could take up to a year to find a diagnosis.
However, now the maximum waiting time will be eight weeks.
Dr Ann Dalton, consultant clinical director of genetics at Sheffield Children’s NHS Foundation Trust, said: “This development will mean a lot to some of our patients waiting on a confirmed diagnosis or changes in treatment.
“This is going to revolutionise genetic science immediately for our patients. “
The facility will eventually be used to test for a wide spectrum of diseases, including some cancers, and for newborn screening.
Sheffield’s Westfield Health contributed £50,000 towards the sequencer.
Charity Yorkshire Cancer Research has also committed funding towards upgrading the facility in the future, once new technology is available.