John Paul O'Shea (Cork North-West, Fine Gael)
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776. To ask the Minister for Health when spinal muscular atrophy will be added to the newborn screening programme which was initially programmed for 2020; and if she will make a statement on the matter. [27615/25]

Jennifer Carroll MacNeill (Dún Laoghaire, Fine Gael)
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As Minister for Health, I am determined to support our screening programmes, which are a valuable part of our health service, enabling early treatment and care for many people, and improving the overall health of our population. Currently, all newborn babies (between 3 and 5 days old) are offered newborn bloodspot screening (generally known as the ‘heel prick’), which tests for nine rare but serious conditions that are treatable if detected early in life.

The Programme for Government commits to continually reviewing the number of conditions babies are screened for, and I am pleased to note that the National Screening Advisory Committee (NSAC) has been actively progressing work in this regard.

NSAC is the independent expert group that considers and assesses evidence in a robust and transparent manner, and against internationally accepted criteria. It is important that we have rigorous processes in place to ensure our screening programmes are effective, quality assured, validated and operating to safe standards, and that the benefits of screening outweigh the harms.

It is important to clarify that the recommendation from NSAC on the addition of screening for Spinal Muscular Atrophy (SMA) was approved by the previous Minister for Health in late 2023. This recommendation specifically noted the anticipated complexity of the associated implementation process and that this would require significant additional investment in the NBS Programme.

In Budget 2024, an additional €1.4m of new development funding was allocated to support the expansion of the Newborn Bloodspot Screening (NBS) Programme to include testing for SMA and also for the introduction of Severe Combined Immunodeficiency (SCID), which had also been subject to a recommendation by NSAC, and approved in early 2023.

I can confirm that the HSE has advised that the equipment needed to enable the roll-out testing for SMA and SCID has been procured, and that verification testing is expected to commence shortly. In terms of staffing, more than half of the requested WTE posts have now been filled, with further progress expected in the coming months.

Officials in my Department are actively engaged with the HSE to ensure that progress continues on implementing an ambitious timeline for the introduction of screening for SMA and SCID without delay.

Once both conditions have been fully implemented, this will bring the number of conditions screened for as part of what is commonly known as the ‘heel prick’ test in Ireland to 11. Nevertheless, I am acutely aware of how difficult it is for parents, families and children who have received a diagnosis of a rare disease, and how challenging daily life can be for them. This is why I remain committed to the further expansion of screening in Ireland in accordance with internationally accepted criteria and best practice.