The Health Information and Quality Authority (HIQA) has published a health technology assessment (HTA) of the addition of screening for spinal muscular atrophy (SMA) to the National Newborn Bloodspot Screening Programme in Ireland (NNBSP). This programme provides newborn bloodspot screening (the 'heel prick test') within the first 72 to 120 hours of life.

The HTA was undertaken at the request of the National Screening Advisory Committee (NSAC) to inform its decision making. Following a positive recommendation from NSAC, the Minister for Health has approved the addition of SMA to the NNBSP.

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. There is no known cure, however, HIQA noted that since 2017, new drug treatments have started to become available in Europe which can significantly improve children’s outcomes.

Currently, cases of SMA are only found when symptoms develop or through family history, such as when a sibling has been diagnosed with the condition. Once symptoms of SMA develop, the damage to motor neurons is irreversible. HIQA’s review found that newborn screening can identify children with SMA. This would allow for treatment to start earlier which is expected to improve clinical outcomes.

International practice around SMA has changed greatly since treatments have become available. HIQA’s review of screening practice found that screening is now fully implemented at a national level in eight countries, implemented at a regional level in four countries, under implementation in one country, being piloted in seven countries, and is under review in two further countries.

It is estimated that introducing screening for SMA could cost the Health Service Executive (HSE) in the region of €17.7 million over the first five years. The majority of expenditure will be associated with the cost of drug treatment.

HIQA’s Deputy CEO and Director of HTA, Dr Máirín Ryan, said: “Newborn screening for SMA through the National Newborn Bloodspot Screening Programme will help find infants before they present clinically, allowing for earlier access to treatment. It is expected that, on average, around seven children with SMA will be identified through the programme each year.”

Read the full HTA and infographic at www.hiqa.ie. 

ENDS

Further information:

Marty Whelan, Head of Communications and Stakeholder Engagement 085 805 5202 / mwhelan@hiqa.ie 

Notes to Editor:

• The Health Information and Quality Authority (HIQA) has today published the following document: 
  • Health technology assessment of the addition of spinal muscular atrophy to the National Newborn Bloodspot Screening Programme. 
• The National Screening Advisory Committee (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, to allow for effective early intervention to reduce the risk of illness or death. Today’s announcement means that Minister for Health has agreed to expand the programme to a total of 11 conditions. Further information on newborn screening is available here.
• Newborn bloodspot screening for SMA targets identification of a gene change that is specific to SMA (homozygous deletion in the survival motor neuron 1 (SMN1) gene). Other gene changes (those that do not involve homozygous SMN1 deletion) which involve up to one in every 20 babies with SMA cannot be identified through this screening test.
• 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, further tests are performed to confirm the finding and make a diagnosis.