Niall Collins (Limerick County, Fianna Fail)

I thank the Senator for the opportunity to update the House on this important matter. The Government is determined to support Ireland’s screening programmes, which are a valuable part of the health service, enabling early treatment and care for many people and improving the overall health of our population.

In terms of newborn bloodspot screening specifically, the Government is aware of how difficult it is for parents whose children have received a diagnosis of a rare disease and how challenging daily life can be for them, their families and their children. The programme for Government commits to continually reviewing the number of conditions babies are screened for. Additionally, the national rare disease strategy launched by the Minister for Health in August of 2025, includes actions related to the expansion of newborn bloodspot screening. I highlight that any proposed changes to Ireland's screening programmes are facilitated through established and evidence-driven protocols.

The national screening advisory committee is the independent expert group that provides advice to the Minister for Health. The rigorous processes utilised by the committee are critical to ensure that our screening programmes are effective, quality assured and operating to safe standards. Since May 2022, babies born in Ireland are offered screening for nine conditions through the HSE’s national newborn bloodspot screening programme. In 2023, two recommendations from the committee for the introduction of screening for SCID and SMA were approved. A total of €1.4 million in additional funding to support the implementation process was provided through the budget of 2024. Implementation planning included a procurement of specialised equipment, the recruitment of 12 additional staff, the physical reconfiguration of existing laboratory and the validation to inform appropriate cut-off values for screening. The implementation process for both conditions commenced in 2024 and is ongoing, involving close collaboration between officials at the Department of Health and the HSE national children's screening programme. Once completed, it will bring the number of conditions screened for through the NNBSP to 11.

In terms of progress, all additional staff have now been recruited, and the required equipment has been purchased, delivered and successfully installed at the newborn screening laboratory. Significant processes continue with regards to the laboratory verification process, as well as the development of necessary treatment pathways. It is crucial to note that the expansion of the NNBSP is a complex and time-consuming process. This was emphasised in the health technology assessment reports for both SCID and SMA, which were completed by HIQA on behalf of the committee.

In relation to concerns raised around the length of the implementation process, it should be emphasised that Ireland is not taking longer than any other comparable countries to access and implement additions to the NNBSP. The Health Council of the Netherlands first recommended screening for SMA in 2019, and implementation was completed three years later in October 2022. In the United States of America, it took six years to fully implement SMA screening after it was added to the recommended uniform screening panel in 2018. Screening for SCID and SMA have been under consideration by the UK national screening committee since 2017 and 2018, respectively.