Steven Matthews (Wicklow, Green Party)
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516. To ask the Minister for Health the position regarding the addition of metachromatic leukodystrophy to newborn screening testing; the actions he has taken since his initial request to amend the testing system to include this disease (details supplied); and if he will make a statement on the matter. [37772/24]

Neasa Hourigan (Dublin Central, Green Party)
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535. To ask the Minister for Health if he will provide an update on the expansion of the newborn bloodspot screening programme; his plans to roll out the programme to detecting for metachromatic leukodystrophy; and if he will make a statement on the matter. [37873/24]

Stephen Donnelly (Wicklow, Fianna Fail)
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I propose to take Questions Nos. 516 and 535 together.

Currently, all newborn babies (between 3 and 5 days old) are offered newborn bloodspot screening (generally known as the ‘heel prick’) for nine rare but serious conditions that are treatable if detected early in life.

In line with the commitment in the Programme for Government, a successor to the National Rare Disease Plan 2014-2018, is currently being developed. A National Rare Disease Steering Group was established in December 2023 and has been tasked with developing the new National Rare Disease Strategy for Ireland. The Steering Group has met eleven times since it was established and has considered a number of issues, including Newborn Screening.

A Rare Disease Patient Forum was also established in February 2024 to ensure that voice of patients and families was central to the development of this new Strategy. Furthermore, a public consultation to gather the views of the public, including industry, on the development of the new Strategy has recently closed, with approximately 600 submissions received.

It is expected that the new Strategy will be finalised by Q4 2024, however, this is dependent on the work of the Steering Group in the development of the Strategy.

The expansion of the National Newborn Bloodspot Screening (NBS) Programme continues to remain a key objective of mine as Minister for Health, and I am pleased to note that the National Screening Advisory Committee (NSAC) has been actively progressing work in this regard.

NSAC is an independent expert group that considers and assesses evidence in a robust and transparent manner, and against internationally accepted criteria. It is important that we have rigorous processes in place to ensure our screening programmes are effective, quality assured, validated and operating to safe standards, and that the benefits of screening outweigh the harms.

Significant progress continues to be made on the expansion of the NBS Programme. As the Deputy will be aware, last year I approved two recommendations from NSAC for the addition of Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) to the NBS programme. This will bring the number of conditions screened for as part of what is commonly known as the ‘heel prick’ test in Ireland to 11, once implemented. I would highlight that this will represent a 37% increase achieved under the lifetime of this Government.

I can confirm that work commenced at the start of this year, with ongoing collaboration between officials in my Department and the HSE National Children’s Screening Programme on implementing an ambitious timeline for the introduction of screening for SMA and SCID.

In February of this year, I was pleased to allocate €1.4m of new development funding in 2024 to support the expansion of the NBS programme. This funding will allow for the rollout of testing for both SCID and SMA and represents a significant funding increase in a single year. The announcement further demonstrates my ongoing commitment to reducing the impact of these rare but serious diseases in children and infants. This investment will be crucial to providing additional funds for new equipment, staff recruitment, validation, quality assurance and training to facilitate addition of new conditions to NBS programme.

In terms of further expansion of our newborn screening programmes, Ireland has always evaluated the case for commencing a national screening programme against international accepted criteria – collectively known as the Wilson- Jungner criteria and Metachromatic Leukodystrophy (MLD) is one of over 30 newborn conditions currently on the NSAC work programme which will be carefully considered by the Committee.

The evidence bar for commencing a screening programme should and must remain high. Uptake rates for the NBS programme are enviably high with an estimated of 99.9% and maintaining confidence in and trust of the programme is key to its success. This ensures that we can be confident that a programme is effective, quality assured and operating to safe standards. There is no doubt that newborn screening programmes have the potential to be rapidly transformed by new technologies and new therapies, but this highlights the need to continue with a robust, methodologically sound and detailed analysis of the evidence in each and every case against internationally accepted screening criteria.

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.