I propose to take Questions Nos. 620, 628 and 669 together.
Currently, all newborn babies (between 3 and 5 days old) are offered newborn bloodspot screening (generally known as the ‘heel prick’) for rare but serious conditions that are treatable if detected early in life.
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 under this Government. As the Deputy will be aware, in November 2023, I endorsed the recommendation from NSAC on the addition and Spinal Muscular Atrophy (SMA) to the NBS programme. This will bring the number of conditions screened for in Ireland to 11, once the implemented, representing a 37% increase over the lifetime of this Government.
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.
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 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. The evidence bar for commencing a screening programme should and must remain high. This ensures that we can be confident that the 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.
The expansion of newborn bloodspot screening is being continually reviewed across Europe where the number of conditions screened for varies significantly. For example, the UK currently screens for a similar number of conditions as Ireland. However, as noted by HIQA in their 2021 ‘Review of processes in use to inform the expansion of newborn bloodspot Screening programmes’, international comparisons of the range of conditions screened is likely to reflect complex decision-making processes and local inputs. These may include differing opinions with respect to assessment of conditions against criteria, differences in practice with respect to organisational structure and laboratory implementation, differing levels of tolerance for false positives and false negatives and differing local epidemiology with respect to condition prevalence and the genetic composition of the local population.
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.
