Minister for Health approves 10th condition for the National Newborn Bloodspot Screening Programme

The Minister for Health Stephen Donnelly TD has approved a recommendation from the National Screening Advisory Committee (NSAC) to add a group of conditions known as Severe Combined Immunodeficiency (SCID) to the National Newborn Bloodspot Screening (NBS) Programme.

When implemented, this will bring to 10 the number of conditions screened as part of what is commonly known as the ‘heel prick’ test in Ireland.

Minister Donnelly said: “Expansion of newborn screening has been a priority for me as Minister, and I am pleased to approve the recommendation from the National Screening Advisory Committee for addition of the group of SCID conditions to the National Newborn Bloodspot Programme. I want to commend the NSAC and HIQA (Health Information and Quality Authority) for the extensive work and thorough process undertaken in assessing the evidence for the expansion of this programme. I have asked the HSE to begin planning for the implementation of this recommendation on SCID, which will bring the number of conditions we screen for in Ireland to 10.”

The Minister added: “I also welcome that the NSAC has decided to ask HIQA to carry out a HTA on an 11th condition, Spinal Muscular Atrophy, and I look forward to getting their recommendation later this year. I am acutely aware of how difficult it is for parents whose children have received a diagnosis of a rare disease, and how challenging daily life can be for them and their families. Advances in technology and treatments for many of these rare but serious conditions are continually emerging, which is very welcome, and we now have a robust process with the NSAC to evaluate the further expansion of newborn screening in Ireland to keep pace with international developments.”

The NSAC considered a comprehensive Health Technology Assessment (HTA) report from HIQA on the evidence for the addition of SCID to the NBS programme at its meeting in December 2022, and made its recommendation based on the evidence and advice in the HTA. 

SCID is a group of rare but serious inherited conditions which are almost uniformly fatal in the first year of life without appropriate treatment. National and international evidence consistently suggests that earlier identification and earlier treatment for SCID results in better clinical outcomes for the child. The estimated prevalence of diagnosed SCID in Ireland is relatively high at 1 in 39,760 births, with 27 patients diagnosed from 2005 to 2020.

The ongoing expansion of the NBS programme is a priority for the Minister and the NSAC, and several other rare newborn conditions are undergoing consideration. At its December 2022 meeting, the NSAC decided to ask HIQA to carry out a HTA for the addition of Spinal Muscular Atrophy (SMA). It is expected that HIQA will commence this work early in 2023.

ENDS

Notes for Editors

The HSE National Newborn Bloodspot Screening Programme offers screening to all newborn babies when they are between 3 and 5 days old for 9 rare but serious conditions.

A 9th condition, ADA-SCID (Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) was added to the programme in May 2022.

When screening for Severe Combined Immunodeficiency (SCID) is implemented, it will bring the number of conditions screened for in Ireland to 10.

The NSAC recently launched its second Annual Call, inviting members of the public and health professionals to make submissions on screening programmes in Ireland. More information on how to submit a proposal is available on its website. 

The NSAC is seeking expressions of interest for four expert roles on the Committee in the areas of Medico Legal, Communications/Journalism, Diagnostic Imaging and Cancer. The roles are currently advertised on Stateboards.ie at the following link.

NSAC also recently published its Work Programme which includes evaluation of proposals on cancer and non-cancer conditions, as well as the expansion of newborn bloodspot screening.