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Funding approved to add new conditions to heel prick test this year


Two new conditions will begin being screened for in babies later this year after the Minister for Health announced additional funding.

Last year Stephen Donnelly approved recommendations from the National Screening Advisory Committee that Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) be added to the list of conditions screened for under the National Newborn Bloodspot Screening (NBS) Programme.

However, while it is 13 months since the Minister asked the HSE to add SCID to the programme, funding to implement this has only now been allocated, with health service officials having previously been unsure if the necessary resources would be provided.

Today the Minister announced that an additional €700,000 will be provided to NBS. This brings the total additional funding for 2024 to €1.4 million and will allow for the rollout of testing for the two conditions along with the nine existing diseases already included in the programme.

Commonly known as the “heel prick” test, NBS is carried out on babies in the first 72 to 120 hours of life and currently screens for nine rare but serious conditions. Approximately 120 babies with these conditions are identified per year through this test.

“Last year, I was pleased to accept the recommendations of the NSAC to add SCID and SMA to the programme, and I’m looking forward to working with all stakeholders to ensure the rollout of testing for these conditions later in 2024,” said Minister Donnelly.

“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. Screening will make a real difference to their lives, which is why I am determined to see more conditions introduced as soon as possible.”

Additional resources will also be given to HIQA to allow them to carry out more health technology assessments (HTAs) into the viability of adding further conditions to the NBS programme. This follows recent calls for metachromatic leukodystrophy (MLD) to be added to the heel prick test, following the HSE’s decision to reimburse a revolutionary new treatment for the condition.

“I’m very pleased to confirm that additional resources being made available in 2024 will expand HIQA’s capacity to conduct evidence reviews, thereby supporting NSAC to advance its work programme,” he added,

“This is important in the context of constantly emerging new developments and breakthroughs in the identification and treatment of newborn conditions. Notably, this will provide a platform for future expansion of the NBS programme, in line with Government commitments.

“This increased capacity will be important for the Committee to speed up the process of their reviews to add conditions such as MLD and tests for other diseases to the newborn screening programme.”



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