Dozens of babies with rare illnesses have been given new hope since Wales became the first part of the UK to offer whole genome sequencing for critically ill children two years ago. The test, which reads a child's entire DNA code, has led to a diagnosis in 40% of cases, according to experts, marking a significant advance in treatment.
One beneficiary is baby Thea from Wrexham, who turned blue shortly after birth and required intensive care. Despite multiple operations, she failed to develop normally. Her mother, Chloe Hamill, discovered the genetic test through a BBC Wales News video on Facebook. After Thea was admitted to hospital with a chest infection, she became eligible for testing. Within a week, a specialist genetics team in Cardiff identified a mutation in the EIF5A gene, a disorder first reported in 2021, making Thea only the sixth known case worldwide.
Angharad Williams, from the All Wales Medical Genomics Service, described the moment of diagnosis as a 'Eureka moment' with palpable happiness in the lab. Without the test, she said, the family might still be searching for answers. Chloe Hamill noted that the diagnosis allowed specialists to focus on Thea's specific needs, giving her a chance to overcome her problems.
Dr Ollie Murch, consultant geneticist and clinical lead for the service, reported that nearly 50 families have undergone testing, with around 40% receiving a direct diagnosis. He highlighted that some families have seen a 'big leap forward' in medical management, and in some cases, the test has led to potentially curative treatments. The service, known as WINGS, was established in spring 2020 and is currently limited to children so ill they are in hospital, but there are hopes to extend it to those with suspected genetic illnesses who are not hospitalised.
