A group of rare but serious inherited disorders have been added to the national Newborn Bloodspot Screening (NBS) programme.

Commonly known as the ‘heel prick test’ in Ireland, NBS offers screening to all newborn babies when they are between three and five days old.

Since May 2022, there have been nine conditions included in the programme. However, the Minister for Health, Stephen Donnelly, has confirmed that severe combined immunodeficiency (SCID) is to be added, brining the total to 10.

SCID is a group of rare genetic disorders that impact how the immune system operates. It is almost always fatal in the first year unless appropriate treatment is provided. Earlier identification and treatment results in better outcomes for those affected.

The estimated prevalence of diagnosed SCID in Ireland is relatively high at one in every 39,760 births.

The decision to include SCID in the screening programme was made following a recommendation by the National Screening Advisory Committee. As part of its decision-making process, the committee had asked the Health Information and Quality Authority (HIQA) to undertake a health technology assessment.

That assessment determined that the earlier diagnosis and treatment of children with SCID would lead to better clinical outcomes, reduced mortality rates and avoidance of harms. Over five years, this screening would cost €3.66 million.

“Newborn screening for all SCID types through the NBS programme will help find infants before they present clinically with infections, allowing for earlier access to potentially curative treatment. In this way, the benefits of screening can be considerable for children with SCID and their families,” commented Dr Máirín Ryan, HIQA's deputy CEO and director of health technology assessments.

Minister Donnelly said that the ongoing expansion of the NBS programme is a priority and a number of other rare conditions are being considered for inclusion.

At its December 2022 meeting, the National Screening Advisory Committee asked HIQA to carry out a health technology assessment for the addition of spinal muscular atrophy (SMA) to the NBS programme.

This would be the 11^th condition to be added to the programme and it is expected that HIQA will commence this work early this year.

HIQA’s health technology assessment of the addition of SCID to the NBS programme can be viewed here.