The Health Information and Quality Authority (HIQA) has published a report on approaches for considering the expansion of newborn bloodspot screening programmes. This report was provided to the National Screening Advisory Committee (NSAC) to help inform the development of their processes for the assessment of conditions being considered for inclusion in Ireland’s National Newborn Bloodspot Screening Programme (NNBSP).

The NNBSP provides newborn bloodspot screening (the 'heel prick test'), within the first 72 to 120 hours of life. The current NNBSP screens for eight conditions and each year the NNBSP identifies approximately 110 babies in Ireland with one of these conditions. In 2020, the NSAC recommended the addition of a ninth condition to the programme, and, following the approval of this recommendation by the Minister for Health, the HSE has been making arrangements for its inclusion.

HIQA undertook a review of nine countries recognised as having described policy-making processes in place for their newborn bloodspot screening programmes. The review of the academic literature and relevant policy documents examined how and why these countries decide on conditions to screen for. The review also included an examination of the range of conditions currently screened for, as well as the role of emerging technology in NBS programme expansion internationally.

The report notes that, when considering expansion of a screening programme, important ethical, legal and social implications must be taken into account; these  include the perspectives of a broad range of stakeholders, such as, the child, their family, scientists, healthcare professionals, and public health professionals. Furthermore, the resources required to expand the programme should be considered at an early stage.

HIQA has recommended that an explicit, structured approach to each aspect of policy-making on this topic should be prepared to ensure consistency and transparency into the future.

Dr Máirín Ryan, HIQA’s Deputy CEO and Director of Health Technology Assessment, said: “The current newborn screening programme is highly successful with consistently high uptake rates, estimated at around 99.9%. In considering further expansion of the programme, it is vital that the existing processes are protected and maintained and that any expansion of the programme is preceded by clearly defined and transparent decision-making to ensure ongoing trust and confidence in the programme.”

Dr Ryan continued: “International screening advisory groups are increasingly recognising the importance of a ‘life-cycle’ approach to making recommendations on newborn bloodspot screening. This includes taking a thorough look at the practicalities of adding a new condition to the programme, and making sure there is a long-term plan for the success of the programme, including its evaluation.”

You can find these documents from the link at the top of the page.

Ends.

Further information:
Eimear Smith, Communications Manager,
085 8804362, esmith@hiqa.ie

Notes to Editor:

• The Health Information and Quality Authority (HIQA)  has today published the following documents:
  • review of processes in use to inform the expansion of newborn bloodspot screening programmes
  • protocol for review of processes in use to inform the expansion of newborn bloodspot screening programmes.
• 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 to the NSAC under an agreed work programme.
• Newborn bloodspot screening (NBS) is performed to identify treatable metabolic disorders or other inherited or congenital disorders in infants.
• 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 or more 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.
• The goal of screening is to enable early detection of disease so as to allow for effective early intervention to reduce illness or death.
  • However, all screening programmes involve some amount of false positives and false negatives, which can have negative consequences for the affected individuals and families. Also, there is 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 any 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.
• Currently in Ireland, eight conditions are screened for within the NNBSP with a ninth condition undergoing implementation following its recommendation by the NSAC in July 2020. Conditions screened for have been selected as they have a relatively high incidence within the Irish population and have fulfilled certain criteria. The conditions and criteria which were fulfilled are listed here.