Roderic O'Gorman (Dublin West, Green Party)
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566. To ask the Minister for Health the current policy with respect to the national screening of newborns for spinal muscular atrophy and severe combined immunodeficiency; if her Department intends the full addition of testing for both conditions as part of the Newborn Bloodspot Screening Programme; the reason testing for spinal muscular atrophy in particular is not yet carried out consistently in heel-prick tests for all newborns under the programme; the timeline anticipated to achieve full consistent national testing for both conditions; and if she will make a statement on the matter. [52998/25]

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’), which tests for nine rare but serious conditions that are treatable if detected early in life.

The Deputy may be aware that a new National Rare Disease Strategy was launched on 27 August. 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 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.

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 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 procured, and that verification testing has commenced and is progressing well. The recruitment process to hire the additional staff required to support the expansion of the NNBSP has almost concluded and work has commenced on developing screening pathways for both conditions.

Officials in my Department are actively engaged with the HSE to ensure that progress continues on implementing an ambitious timeline for the introduction of screening for SMA and SCID. 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.