Time to expand newborn screening

Rare Diseases Ireland (RDI) has issued an important call to action for the Irish healthcare system to expand the scope of the HSE national newborn bloodspot screening programme (NNBSP).

RDI argues the number of conditions screened for by the NNBSP must double to align with European standards, where 18 conditions are screened on average. This appeal, which was delivered to members of the Oireachtas at a briefing on 25 June, highlights the critical need for enhanced early detection measures for newborns.

Newborn bloodspot screening involves a ‘heel prick test’ performed between 72 and 120 hours after birth. This method enables the early identification of serious medical conditions and rare diseases, providing crucial opportunities for timely intervention and treatment.

Presently, the NNBSP covers nine rare yet serious diseases, identifying approximately 120 impacted infants annually. Expanding screening to include a broader range of conditions, as advocated by RDI, could potentially increase the number of diagnosed cases to over 200 per year. Such an expansion would not only improve health outcomes, but would also enhance the quality-of-life for affected children, affording them the chance to lead relatively normal lives.

During discussions with Government officials as part of its Get Rare Aware campaign, the RDI highlighted how Ireland lags behind its European counterparts. Countries such Austria, Italy, and the Netherlands screen for between 20 and 30 conditions. The disparity is stark, according to the RDI. While Ireland evaluates adding conditions recommended by the national screening advisory committee, the advocacy group says bureaucratic hurdles and resource constraints continue to impede timely implementation.

CEO Ms Vicky McGrath stressed the critical need for swift action, noting that bureaucratic delays often stretch assessment periods to up to 18 months per condition. This inefficiency, according to Ms McGrath, not only wastes resources, but also denies Irish newborns access to potentially life-saving treatments.

Recent approvals, such as the inclusion of severe combined immunodeficiency (SCID) in January 2023, mark progress. SCID is fatal in infancy without treatment and screening can save lives. However, the inclusion of the condition under the programme was delayed by the HSE recruitment embargo.

Spinal muscular atrophy (SMA) is another condition recommended for inclusion. Each year in Ireland, an estimated six-to-seven children are born with SMA. This condition can be treated using a gene therapy that replaces the faulty gene with a functioning one. Administering this therapy early in life is crucial, as delaying treatment until after symptoms appear can lead to permanent damage.

RDI’s campaign should not be ignored. As Ms McGrath stated: “The time for action is now.”

It is imperative that policymakers heed this call, so that affected newborns receive the care and treatment they deserve.