Dáil Éireann Debate, Wednesday - 24 September 2025
191. Deputy Pádraig O'Sullivan asked the Minister for Health the progress made by her Department in expanding the screening process for newborn babies with rare diseases; and if she will make a statement on the matter. [50779/25]
View answerAs 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. As the Deputy may be aware, a new National Rare Disease Strategy was launched on 27th August. This Strategy aims to ensure that all people living with a rare disease, and their families, have access to equitable, inclusive and cross-sectoral care throughout their life journey that will enable them to reach their full potential and to live their best lives. Work is ongoing to ensure that the full implementation of the Strategy including the establishment of an Implementation Oversight Group and the development of a detailed implementation plan outlining the actions required to fully achieve the Strategy's 11 recommendations.
I would highlight that any proposed changes to Ireland’s screening programmes will be facilitated through established protocols. The National Screening Advisory Committee (NSAC) is the independent expert group that considers proposed changes to Ireland’s screening programmes. NSAC assesses the evidence in a robust and transparent manner, and against internationally accepted criteria, before making recommendations to myself as Minister for Health.
The rigorous processes utilised by NSAC are critical to ensure that our screening programmes are effective, quality assured and operating to safe standards, and that the benefits of screening outweigh the harms.
Incremental progress continues to be made on the expansion of the National Newborn Bloodspot Screening (NNBS) Programme. In 2023, two recommendations from NSAC on the addition of Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) to the NNBS programme were approved. In Budget 2024, an additional €1.4 million of new development funding was provided to support the SMA/SCID implementation process, and I am pleased that work is progressing. Once both conditions have been fully implemented, the number of conditions screened for in Ireland will increase to 11.
In terms of calls for the further expansion of our NNBS programme, in 2024, NSAC established a Newborn Screening Subgroup to provide additional expertise to support the Committee’s decision-making processes.
In May 2025, the Newborn Screening Subgroup completed work on developing a framework for prioritising proposals related to newborn screening. This framework was subsequently used to identify 10 conditions. These conditions have now been referred by NSAC to the Health Information and Quality Authority (HIQA) to undergo evidence review, as resources allow. I am glad to note that the evidence review to add Congenital Adrenal Hyperplasia to the NNBS programme has now commenced and I look forward to receiving a recommendation from NSAC in this regard in 2026.
NSAC holds annual Calls for Submissions, which invite proposals from all stakeholders and organisations, including members of the public, the HSE and other medical professionals, for the introduction of new screening programmes or changes to existing programmes. The 2025 Call for Submissions closed on 12 September 2025 and NSAC will review the proposals received at its upcoming meetings. A list of conditions on the NSAC Work Programme is available on the Committee’s website, at www.nsacommittee.gov.ie
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.
