Wales approves funding for newborn-screening lab and HT1 testing
Ministers in Wales have approved funding to expand newborn bloodspot screening, including a new laboratory facility at University Hospital Wales and the addition of testing for hereditary tyrosinaemia type 1, known as HT1. The decision was published on Friday 23 October and is intended to give the national service more capacity for the screening programme now and for future changes.
Funding for laboratory capacity
The package includes up to £1.218 million in capital funding for additional laboratory capacity, infrastructure and facilities at University Hospital Wales. A separate £529,000 revenue allocation has also been agreed to support the expansion of the service and the addition of HT1 screening.
The planned biochemistry laboratory will support the All-Wales Newborn Bloodspot Screening Service. Existing testing facilities are not large enough to introduce additional tests, so the investment is aimed at removing that operational constraint. It is a funding and capacity decision, rather than evidence that every planned change is already available to families.
The programme currently offers screening to all babies born in Wales, about 28,000 each year, for nine rare but serious conditions. These include cystic fibrosis and congenital hypothyroidism. The bloodspot test uses a small sample taken from a baby’s heel, ideally between the fourth and sixth days of life, and is normally part of routine postnatal care.
HT1 screening is the immediate addition
HT1 is a serious inherited metabolic condition. The UK National Screening Committee recommended newborn screening for the condition in 2022, and the laboratory upgrade is intended to enable Wales to put that recommendation into practice. Identifying a screened-for condition early can allow treatment and support to begin promptly, where appropriate.
The decision adds a specific new test to the programme’s direction of travel, but it does not give a date for HT1 screening to begin. It also does not set out a timetable for the laboratory to open or describe the detailed arrangements through which the expanded testing will be delivered. Those operational steps will determine when the approved capacity becomes a working service.
Other conditions remain under evaluation
The investment is also intended to make the service better able to respond if further recommendations are made. Spinal muscular atrophy, or SMA, and severe combined immune deficiency, known as SCID, have not been added to the Welsh programme through this announcement. The UK National Screening Committee is still developing evidence and evaluating whether those conditions should be included in newborn screening programmes across the UK.
Officials have been asked to explore options for Wales to join the in-service evaluation of SMA screening already under way in Scotland and regions of England. Exploring that participation is not the same as a decision to introduce SMA screening in Wales, and no decision on SCID screening has been announced.
Preparing for later recommendations
The immediate significance of the investment is the combination of a confirmed HT1 addition with a larger laboratory base for the existing programme. The new capacity is intended to help the service assess and implement future recommendations safely as evidence changes. For families, the present announcement confirms funding and policy direction; the practical milestones still to come are the laboratory expansion and the start of HT1 testing.
