Addition of spinal muscular atrophy to newborn screening being assessed by Hiqa

The Health Information and Quality Authority (Hiqa) has begun assessing the addition of spinal muscular atrophy (SMA) to the newborn health-screening process.

SMA is a rare genetic condition that causes irreversible nerve damage that can lead 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.

New treatments have emerged in recent years that have the potential to significantly improve outcomes through early diagnosis and treatment.

In January this year the National Screening Advisory Committee requested that Hiqa assess the inclusion of SMA in the National Newborn Bloodspot Screening Programme. Also known as the heel prick test, this screening is carried out within the first 72-120 hours of life and screens for nine conditions, including cystic fibrosis and congenital hypothyroidism.

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“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,” says Dr Máirín Ryan, Hiqa’s deputy chief executive and director of health technology assessment. “Screening programmes can offer considerable benefits. They can identify conditions before symptoms begin, enabling earlier access to treatment.

“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.”

Included in Hiqa’s objectives for its health-technology assessment are to perform a review of the test accuracy of newborn screening for SMA, to describe the clinical effectiveness of screening for SMA and to assess the cost effectiveness, budget impact and resource implications of introducing newborn screening for SMA.

Hiqa will also “consider any wider organisational, ethical or societal implications that newborn screening for SMA may have for patients, families, the general public or the healthcare system in Ireland”.

An analysis will also be carried out of international practice by describing the countries that have newborn bloodspot screening processes for SMA. The overview will focus on countries of most relevance to Ireland, including countries in the European Economic Area, the United Kingdom, the United States, Canada, Australia and New Zealand.

Hiqa expects to publish the findings of its assessment in the final quarter of this year.