BBC News Special - Wales Infants and Children's Genome Service
Andy Warhol famously said, everyone will have their fifteen minutes of fame and for 3 of our staff that day came last week when BBC Wales Health Correspondent Owain Clarke attended AWMGS Headquarters at the University Hospital of Wales (UHW) in Cardiff.
Head of Laboratories Sian Morgan, Constitutional Scientist Dr Angharad Williams and Consultant in Clinical Genetics, Dr Oliver Murch were interviewed for a BBC news special featuring the highly regarded Wales Infants and Children’s Genome Service (WINGS).
Since its initial launch during Spring 2020, WINGS has pushed the boundaries of genomic testing in Wales to an unprecedented scale using whole genome sequencing which has the capacity to sequence the entire DNA structure of the human body in a matter of hours.
Using this remarkable technology (facilitated by the Novaseq 6000), WINGS can screen between 6000 – 8000 known genetic diseases in acutely unwell paediatric patients.
On the subject of testing activity and efficacy since its inception, Dr Oliver Murch, Consultant in Clinical Genetics said:
"We have had nearly 50 families or children go through this service and about 40% have had a diagnosis directly as a result".
Speaking to Owain Clarke and our Welsh audiences over on S4C Newyddion, Head of Laboratories, Sian Morgan said:
"We've had an answer to around four out of 10 cases. That's really important considering when I started my career about 30 years ago we were lucky to get an answer in one in 10 of the tests we were doing then. That's because the technology has completely changed in recent years."
[WINGS] "makes all the difference to the families in terms of diagnosis and treatment. We know without diagnosis these people are coming back to the health service again and again for more tests."
During the news special, the Watson family shared their first hand experience using WINGS, when their baby Thea suffered from breathing difficulties and complications to her nose and airways. Thea attended the special care unit at Wrexham Maelor Hospital then on to Alder Hey hospital in Liverpool, however despite many assessments by doctors and specialists, Thea’s condition remained undiagnosed until Mum, Chloe discovered the press coverage to coincide with the initial service launch in 2020.
Source: BBC Wales
Thea (pictured) became eligible for WINGS when she had to be later admitted to the hospital following a chest infection as there were concerns about how unwell she was in hospital and that a genetic diagnosis might change her medical care, the medical team in Liverpool contacted the Genetics team in Cardiff.
On discovering the Wales Infants and Childrens Genome Service and the diagnosis this pioneering test has given to Thea, Mum Chloe said:
"It's allowed specialists who need to be involved in her care to surround her in those areas that she's going to struggle. It's given her a chance to overcome her problems or at least learn how to deal with them".
Constitutional Scientist, Dr Angharad Williams said:
"It was a "Eureka moment" when the team analysed Thea's sample. "There was a palpable happiness in the lab," said Ms Williams. "[Had we not made the discovery] it's very likely the family would still not know and potentially they'd be coming back to the NHS looking for more and more testing and it might have been a long time before they had an answer."