HIQA undertakes an assessment of the potential addition of severe combined immunodeficiency (SCID) to the National Newborn Bloodspot Screening Programme

Date of publication:
image of child getting a Newborn Bloodspot Screening

HIQA has published the protocol for its next Health Technology Assessment (HTA) on the potential addition of severe combined immunodeficiency (SCID) to the National Newborn Bloodspot Screening Programme (NNBSP). The protocol explains and describes the evidence synthesis approach that HIQA’s team will use to complete this piece of work.

SCID is a rare genetic condition which causes a child to have a very weak immune system, and therefore be very vulnerable to infection. 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 eight conditions. Screening for a ninth condition, ADA-SCID, one specific type of SCID, is currently being implemented.

In September 2021, NSAC requested that HIQA undertake an assessment to examine the clinical, social, economic, organisational and ethical issues related to including all SCID subtypes in the NNBSP. The report resulting from the assessment will be provided to the National Screening Advisory Committee (NSAC) later this year, and will inform a decision regarding the potential inclusion of SCID in Ireland’s NNBSP.

Dr Máirín Ryan, HIQA’s Deputy CEO, and Director of Health Technology Assessment, said: “With Rare Disease Day occurring earlier this week, it is timely that we are publishing this protocol. The NNBSP screens for several rare but serious conditions in Ireland. The NNBSP is considered to be an important public health initiative with a high uptake rate. The benefit of screening can be considerable as it can often allow treatment to start earlier than if an infant presents clinically; however, there are a large number of factors to consider when examining the appropriateness of a screening programme. These include how accurate a screening test is, whether or not early detection has a positive effect on treatment, and if there are any significant ethical, resource or organisational challenges to be considered. This is why we are conducting this in-depth assessment.”

You can find the protocol from the link at the top of the page.

The full Health Technology Assessment will be published in due course.

Ends.

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: o Protocol for the Health Technology Assessment of the addition of severe combined immunodeficiency (SCID) to the National Newborn Bloodspot Screening Programme.
  • The 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 (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.
  • Screening does not make a diagnosis in of itself, 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, subsequent tests are performed to confirm the finding and make a diagnosis.
    • However, all screening programmes are vulnerable to the potential for false positives and false negatives, which can have negative consequences for the affected individuals and their families. There is also the potential for overtreatment of an individual where they are detected through screening; this occurs where a person is treated for a condition following its detection through screening though the condition would not have caused clinically significant symptoms in that particular person, meaning the person is unnecessarily exposed to treatment. Therefore, it is not always appropriate to screen for certain conditions; careful evaluation is needed to inform population-level recommendations.
  • 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.