HIQA provides advice on the addition of SCID to the National Newborn Bloodspot Screening Programme

Date of publication:

HIQA has published a health technology assessment (HTA) on the addition of severe combined immunodeficiency (SCID) to the National Newborn Bloodspot Screening Programme (NNBSP). The HTA was undertaken to inform decision-making by the National Screening Advisory Committee (NSAC). 

Following a subsequent positive recommendation from NSAC, the Minister for Health has approved the addition of SCID to the NNBSP. 
The NNBSP provides newborn bloodspot screening (also referred to as the 'heel prick test') within the first 72 to 120 hours of life and currently screens for nine conditions. 

SCID is a rare, life-threatening, inherited condition that results in a child having low levels of T-cells. This causes the child to have a weakened immune system, and therefore to be very vulnerable to infection. SCID can be identified through screening, family history or the development of severe and or recurrent infections.

HIQA found that earlier diagnosis and treatment leads to better clinical outcomes for children with SCID, with reduced mortality rates and avoidance of harms. Screening would enable the earlier detection of children with SCID. However, it will also identify children who have very low levels of T-cells for other reasons, not all of which will be clinically relevant or will benefit from earlier detection.

HIQA estimated that introducing screening for all types of SCID would cost €3.66 million over five years. 

HIQA's report also identified some key operational considerations relevant to introducing this new form of screening for SCID. These include: 

  • timing of implementation given the planned move to the new children’s hospital
  • training and recruitment of laboratory staff.

Dr Máirín Ryan, HIQA's Deputy CEO, and Director of Health Technology Assessment, said: "Newborn screening for all SCID types through the National Newborn Bloodspot Screening 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."

Find the full HTA at the link at the top of this page. 

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:

    • Health Technology Assessment of the addition of severe combined immunodeficiency (SCID) 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 NSAC under an agreed work programme. 
  • Newborn bloodspot screening (NBS) 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.
  • A screening test is not a diagnostic test. Screening tests are carried out on people who seem to be healthy. 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.
    • No screening test is 100% reliable, so sometimes test results are inaccurate. These are called false positives and false negatives. Screening programmes sometimes also detect other conditions, some of which have little or no clinical consequence or that do not benefit from early identification. Inaccurate results and incidental findings can have negative consequences for the affected individuals and their families. Decisions to implement screening programmes must therefore take consideration of these issues.
  • Screening for ADA-SCID, one specific type of SCID (that currently accounts for approximately half of SCID cases in Ireland) was introduced in May 2022. 
  • Screening will identify children with low levels of T-cells (termed ‘T-cell lymphopenia’ or TCL). While screening would enable the earlier detection of all children with SCID, it will also identify false positives as well as children who have very low levels of T-cells for other reasons. These low levels may be a temporary finding or may be due to other conditions, referred to as ‘non-SCID TCLs’, and which have various causes. Not all of these non-SCID TCLs will be clinically relevant or will benefit from earlier detection. For those who are identified as false positives, there is the inconvenience of an additional blood draw and associated anxiety. While this potential harm is limited, it must still be managed in the context of a decision to implement screening.
  • Conditions screened for thus far within the NNBSP have been selected as they have fulfilled certain criteria. The conditions and criteria which were fulfilled are listed here.