Marie Sherlock (Dublin Central, Labour)
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174. To ask the Minister for Health when her Department will ensure the addition of spinal muscular atrophy to the Newborn Bloodspot Screening Programme, which is crucial to early diagnosis and support, and which was endorsed by the then Minister in November 2023; and if she will make a statement on the matter. [64375/25]

Jennifer Carroll MacNeill (Dún Laoghaire, Fine Gael)
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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.

Incremental progress continues to be made on the expansion of the National Newborn Bloodspot Screening Programme (NNBSP). In 2023, two recommendations from the National Screening Advisory Committee (NSAC) on the addition of Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) to the NNBSP were approved.

In Budget 2024, an additional €1.4 million of new development funding was provided to support the SMA/SCID implementation process. Once both conditions have been fully implemented, the number of conditions screened for in Ireland will increase to 11.

In terms of the current implementation status, the HSE has advised that the equipment needed to enable the roll-out testing for SMA and SCID 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.

In relation to concerns raised around the length of the implementation process, it should be emphasised that Ireland is not taking longer than other comparable countries to assess 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 (RUSP) in 2018. In the United Kingdom, screening for SCID and SMA have been under consideration by the UK National Screening Committee since 2017 and 2018 respectively.

Nevertheless, 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.