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Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping

Margaret M Brennan¹, Aoife O'Connell¹, Loretta O'Grady²

¹Child Health Public Health, National Healthy Childhood Programme, Health Service Executive Area Office, Arden Road, Tullamore, Co. Offaly, Ireland.

International Journal of Neonatal Screening

|November 24, 2025

Summary

Implementing new conditions like severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) into newborn bloodspot screening (NBS) programs typically takes two to six years. This expansion requires significant time and coordinated efforts for successful integration.

Keywords:

bloodspot implementation newborn screening severe combined immunodeficiency spinal muscular atrophy timeframes

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Area of Science:

Medical Genetics
Public Health
Neonatal Care

Background:

Newborn bloodspot screening (NBS) programs are expanding globally.
Severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) are key conditions being added to NBS.
Ireland is expanding its NBS program to include SCID and SMA.

Purpose of the Study:

To identify the timeframes for implementing national, regional, or state-wide expanded NBS programs.
To inform the expansion of NBS programs in the Republic of Ireland.
To provide guidance for global NBS program expansion.

Main Methods:

A scoping review of literature published between 2015 and 2025.
Searched databases including PubMed, Embase, and grey literature.
Included articles detailing NBS implementation for SCID, SMA, or metabolic conditions.

Main Results:

Fourteen articles met inclusion criteria, covering SCID, SMA, and multiple conditions.
Implementation timeframes for new NBS conditions ranged from two to six years across various global jurisdictions.
Examples include the US, various European countries, Hong Kong, and New Zealand.

Conclusions:

Expanding NBS programs to include new conditions is a lengthy process, typically taking 2-6 years.
Successful NBS expansion necessitates substantial time investment and coordinated interdisciplinary efforts.
Further research detailing implementation steps and timelines is crucial for guiding global NBS program development.