John Brady (Wicklow, Sinn Fein)
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1041. To ask the Minister for Health the number of conditions currently screened for in the National Newborn Bloodspot Screening Programme; and if she will make a statement on the matter. [63150/25]

John Brady (Wicklow, Sinn Fein)
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1042. To ask the Minister for Health her plans to expand the number of conditions that are currently screened for in the National Newborn Bloodspot Screening Programme; and if she will make a statement on the matter. [63151/25]

Jennifer Carroll MacNeill (Dún Laoghaire, Fine Gael)
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I propose to take Questions Nos. 1041 and 1042 together.

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.

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 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 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 Programme (NNBSP). 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 SCID and SMA implementation process.

In terms of the current status, the HSE has advised that the equipment needed to enable the roll-out testing for SCID and SMA has been purchased, delivered and successfully installed at the newborn screening laboratory and significant progress continues with regards to the laboratory verification process. The recruitment process to hire the additional staff required to support the expansion of the NNBSP has been completed and work continues on developing screening pathways for both conditions.

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 the NNBSP, 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 the prioritisation of 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 a Health Technology Assessment (HTA), as resources allow.

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 now commenced and I look forward to receiving a recommendation from NSAC in this regard in 2026.

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.

John Brady (Wicklow, Sinn Fein)
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1043. To ask the Minister for Health to provide all recommendations from the National Screening Advisory Committee since 2019 regarding the expansion of the National Newborn Bloodspot Screening Programme; and if she will make a statement on the matter. [63152/25]

John Brady (Wicklow, Sinn Fein)
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1044. To ask the Minister for Health to provide the recommendations from the National Screening Advisory Committee since 2019 regarding the expansion of the National Newborn Bloodspot Screening Programme that have not been implemented; to provide details of when the recommendation was made and when it will be implemented; and if she will make a statement on the matter. [63153/25]

Jennifer Carroll MacNeill (Dún Laoghaire, Fine Gael)
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I propose to take Questions Nos. 1043 and 1044 together.

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 babies (between 3 and 5 days old) are offered newborn bloodspot screening (generally known as the ‘heel prick’ test), 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.

I would highlight that any changes to Ireland’s screening programmes will be facilitated through established, evidence-driven protocols. The National Screening Advisory Committee (NSAC) is the independent expert group that considers proposed changes by assessing the evidence robustly and transparently, 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.

Progress continues to be made on the expansion of the National Newborn Bloodspot Screening Programme (NNBSP). Since its inception in 2019, NSAC have made three recommendations in relation to the expansion of the NNBSP.

In 2022, screening for Adenosine Deaminase-Severe Combined Immunodeficiency (ADA-SCID) was introduced. In 2023, two additional recommendations from NSAC on the introduction of Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) were approved. An additional €1.4 million of new development funding was allocated in Budget 2024 to support the implementation process for SCID and SMA.

In terms of the current status, the HSE has advised that the equipment needed to enable the roll-out testing for SCID and SMA has been purchased, delivered and successfully installed at the newborn screening laboratory and significant progress continues with regards to the laboratory verification process. The recruitment process to hire the additional staff required to support the expansion of the NNBSP has been completed and work continues on developing screening pathways for both conditions.

Once both conditions have been fully implemented, the number of conditions screened for in Ireland will increase to 11.

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.