Newborn babies in Wales will now be screened for hereditary tyrosinemia type 1, a rare genetic condition, following a £1.21m investment in a new laboratory facility at the University Hospital of Wales.
The expansion means newborns will be tested for another rare genetic condition, with scope for more testing to follow. Currently, newborns in Wales are screened for nine rare but serious diseases, including cystic fibrosis and congenital hypothyroidism.
What is tyrosinemia type 1?
Tyrosinemia type 1 is a rare but treatable inherited metabolic disorder that stops the normal breakdown of protein. If not detected during newborn screening, babies can present with symptoms including failure to gain weight, jaundice, diarrhoea and vomiting, fever, abdominal swelling caused by an enlarged liver, or bleeding and bruising.
If left untreated, it can lead to long-term health problems including liver and kidney disease. Early intervention can significantly improve long-term outcomes.
Investment and implementation
In October 2025, NHS England announced that all newborn babies in England would be routinely screened for the rare genetic condition. One year on, the move is now being implemented in Wales.
Up until now, testing facilities in Wales had not been large enough to introduce new tests, but the £1.21m investment in the new laboratory will provide sufficient space and infrastructure. The test will be incorporated into the routine blood spot test taken from a baby's heel four to six days after birth.
Future screening developments
The investment also means Wales will be better placed to follow future recommendations from the UK National Screening Committee. The committee is currently developing evidence and evaluating whether spinal muscular atrophy (SMA) and severe combined immune deficiency (SCID) should be included as part of the newborn screening programmes across the UK.
Deputy Minister for Public and Preventative Health Nerys Evans said: "This new lab will modernise and futureproof our newborn screening infrastructure in Wales. We know that screening saves lives and this development means we’ll be well placed to respond to future screening developments and recommendations."
Dr Sikha de Souza, public health consultant for Public Health Wales, said: "Newborn blood spot screening helps to give babies the best start in life. By detecting serious health conditions shortly after birth it allows early treatment that can improve outcomes and prevent lifelong complications. This new laboratory facility is a welcome addition to our newborn blood spot screening programme in Wales."
