The Health Information and Quality Authority (HIQA) has published the protocol for its health technology assessment (HTA) of the addition of spinal muscular atrophy (SMA) to the National Newborn Bloodspot Screening Programme. The protocol describes the evidence synthesis approach that HIQA will use to complete this work. 

In January 2023, the National Screening Advisory Committee (NSAC) requested that HIQA undertake an assessment of including SMA in the National Newborn Bloodspot Screening Programme. This programme provides newborn bloodspot screening (the 'heel prick test') within the first 72 to 120 hours of life and currently screens for nine conditions.  

 
SMA is a rare, genetic condition which causes irreversible damage to the nerves that control movement; this leads to muscle wasting and weakness. The severity of SMA and the age at which symptoms present vary, with some forms historically resulting in death in early childhood. In recent years, new treatments have become available for SMA with the potential to significantly improve outcomes through earlier diagnosis and treatment. 

Dr Máirín Ryan, HIQA's Deputy CEO and Director of Health Technology Assessment said: “The National Newborn Bloodspot Screening Programme is a successful and important public health initiative that screens infants for rare, but serious conditions to enable early intervention. Screening programmes can offer considerable benefits. They can identify conditions before symptoms begin, enabling earlier access to treatment.”

The assessment will provide evidence-based advice to NSAC and will inform a decision regarding the potential inclusion of SMA in Ireland’s National Newborn Bloodspot Screening Programme.
Dr Ryan continued: “A decision to screen for a condition should always be considered carefully and be based on the best available evidence. Our assessment of screening for SMA will examine how accurate the available screening tests are, the current diagnostic and treatment pathway for children with SMA and if there are any significant ethical, resource or organisational challenges which would impact adding this test to the screening programme.” You can find the protocol from the link at the top of the page.

The full health technology assessment will be published in due course.

Ends.
For further information please contact:
Marty Whelan, Head of Communications and Stakeholder Engagement 085 805 5202 / mwhelan@hiqa.ie

Notes to the editor:

• The Health Information and Quality Authority (HIQA) has today published the following document: 
  • Protocol for the health technology assessment of the addition of spinal muscular atrophy to the National Newborn Bloodspot Screening Programme 
• The NSAC was established in 2019 as an independent advisory committee to advise the Minister and Department of Health on all new proposals for population-based screening programmes and revisions to existing programmes. Further information on the NSAC is available here.
• HIQA has been requested by the Department of Health to provide evidence synthesis support and evidence based advice to the NSAC under an agreed work programme.
• Newborn bloodspot screening is performed to support early detection of treatable metabolic disorders or other inherited or congenital disorders in infants, so as to allow for effective early intervention to reduce the risk of illness or death. Further information on newborn screening is available here.
• Screening does not make a diagnosis, but rather serves to suggest that an individual may be at higher risk of having one of the conditions screened for. Where an individual is identified through screening as potentially having a certain condition, subsequent tests are performed to confirm the finding and make a diagnosis.
  • All screening programmes are vulnerable to the potential for false positives and false negatives, which can have negative consequences for the affected individuals and their families. There is also the potential for overtreatment of an individual, for example, where they receive unnecessary treatment as a result of screening, or when they receive treatment earlier than would be helpful in their case; this is particularly important when such treatment has the potential for serious adverse events or can otherwise inconvenience the individual. Therefore, it is not always appropriate to screen for a condition; careful evaluation is needed to inform population-level recommendations.