Expansion of screening programme


The HSE is progressing  the recommendation that ADA -SCID (Adenosine Deaminase Deficiency – Severe Combined Immunodeficiency) be added to the list of conditions screened as part of the National Newborn Bloodspot Screening Programme, according to Health Minister, Mr. Stephen Donnelly.

The Minister was speaking following the publication of the first annual report of the National Screening Advisory Committee  (NSAC), which made the recommendation last year. 

He said the further expansion of the National Newborn Bloodspot Screening Programme had been prioritised by the NSAC this year.

This meant that affected babies would be identified earlier, commenced on treatment earlier and outcomes would be improved.

Severe Combined Immunodeficiency Disease (SCID) is a group of inherited disorders of the human immune system and, unless treated, is fatal in infancy. ADA-SCID is the leading

cause of SCID in Ireland. Infants appear healthy at birth and signs of immunodeficiency appear some weeks or months later. SCID is curable via haematopoietic stem cell transplant (HSCT) or gene therapy (GT) that enable reconstitution of the immune system in affected individuals. If diagnosed early and treated in a timely manner, the survival rate  is approximately 94%.

The Minister said the HSE was also progressing with implementing the NSAC recommendation to modify the Diabetic RetinaScreen Programme to extend the interval between screens from one to two years for people with diabetes who were at low risk of retinopathy. This change would reduce unnecessary clinic visits and examinations for lower risk patients.

The NSAC, which is chaired by Prof. Niall O’Higgins, is an expert independent committee which advises the Minister for Health about new national population screening programmes, or changes to existing programmes. It plays a vital role in ensuring that our screening programmes are in line with best international practice, and that any changes to programmes are made in a robust, evidence-based and transparent manner.