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Dáil

Written answer

Health Screening Programmes

Summary

Newborn bloodspot screening currently tests for 11 conditions, with Severe Combined Immunodeficiency and Spinal Muscular Atrophy added in April 2026. Fifteen further conditions have been referred for Health Technology Assessments, beginning with Congenital Adrenal Hyperplasia, while expansion remains subject to expert evidence and internationally accepted criteria.

4062. Deputy John Brady asked the Minister for Health to provide an update on the National Newborn Bloodspot Screening Programme; the progress that has been made by the National Screening Advisory Committee to expand the programme; her plans to add further conditions to the test; and if she will make a statement on the matter. [59005/26]

Comment on this

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 eleven 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 in August 2025. 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 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.

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 Programme (NNBSP). In April 2026, screening for Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) were added to the NNBSP.

In terms of calls for the further expansion of the NNBSP, in 2025, NSAC’s Newborn Screening Subgroup completed work on developing a framework for the prioritisation of proposals related to newborn screening. This framework was subsequently used to identify 15 conditions which have now been referred by NSAC to the Health Information and Quality Authority (HIQA) to undergo a Health Technology Assessment (HTA).

HTAs facilitate the assessment of relevant evidence and knowledge on the effects and consequences of healthcare technologies in order to guide decisions regarding the appropriate use of technology and efficient allocation of resources. They involve a multi-disciplinary assessment of the clinical, economic, ethical, legal and societal perspectives that may be impacted by the introduction of a new technology. They are time-intensive and rigorous processes.

I am glad to note that the first of the aforementioned HTAs, to consider the addition of Congenital Adrenal Hyperplasia to the NNBSP, has commenced and I look forward to receiving a recommendation from NSAC in this regard before the end of the year.

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.

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