Ba mhaith liom fáilte a chur roimh an Aire Stáit go dtí an Teach inniu. The newborn bloodspot screening, NBS, programme, commonly known as the heel prick test, is carried out on babies in their first 70-120 hours of life and currently screens for nine rare but serious conditions. Approximately 120 babies with these conditions are identified per year through this test. However, parents are still calling for the urgent roll-out of the potentially life-changing heel prick test for spinal muscular atrophy, SMA, nearly two years after it was approved for the newborn screening programme. It is estimated that six or seven babies are born in Ireland every year with SMA. If it is not treated, 90% of children born with this most severe type of SMA do not live past their second birthday.

SMA affects the cells in the spinal cord, making muscles weaker and causing problems with movement, breathing and swallowing. It is a rare genetic disease where early detection is crucial because symptoms typically appear at three or four months, when irreversible neurological damage has already occurred.

Without early intervention, SMA can be fatal up to the age of two but several treatments are available in Ireland that can significantly alter prognosis if there is early diagnosis. In 2023, the then Minister for Health, Stephen Donnelly, accepted the recommendations of the national screening advisory committee to increase the number of conditions to be screened to include the implementation of early screening for spinal muscular atrophy. However, unfortunately, this has yet to materialise.

Some €1.4 million of new development funding was provided back in 2024 to export the expansion of a newborn screening programme. The funding covered areas such as new equipment, staff, recruitment, validation, quality assurance and training of staff. Recommendations from the NSAC on the addition of spinal muscular atrophy and severe combined immunodeficiency, SCID, to the national newborn bloodspot screening programme, NNBSP, have been approved. I raise this issue today in this House, as I have done on a number of occasions, and I am hopeful the Minister of State will be able to give us some information as to when we can expect this test to be rolled out and in operation.

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.

I thank the Minister of State for his response. I welcome the fact that progress has been made on the recruitment of recruitment of staff and the necessary equipment. It does seem to take an awfully long time, which he outlined in his response, not just in this country but in different jurisdictions as well. As he rightly outlined, this is a terrible, stressful situation for parents who find themselves in such in such a position, and it is vital that we move to get this up and running as soon as we can. I would like the Minister of State to bring the message back to the Minister, Deputy Carroll MacNeill that we should not delay and should expedite the roll-out of this as soon as is practically possible.

We have always evaluated the case for commencing or expanding our national screening programmes against internationally accepted criteria, collectively known as the Wilson and Jungner criteria. The evidence bar for screening programmes should and must remain high. This ensures that we can be confident that programmes are effective, quality assured and operating to safe standards. While Ireland currently screens for fewer conditions than many other European countries, direct comparisons are not always accurate. Ireland adopts a national population-based approach, with screening being the first part of a full pathway that also involves onward diagnosis and treatment. The evidence related to each of these is examined in advance of the recommendations by the NSAC. Unlike some other European countries, Ireland does not screen on a regional or indeed pilot basis. Nevertheless, 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. Advances in technology and treatments for many of these conditions are continually emerging, which is very welcome, and the House can be assured that all stakeholders involved in the implementation process are working to ensure that screening for both conditions is introduced as soon as possible, and the Minister will continue to advocate on behalf of the rare diseases community in this regard.