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.
Insights
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.
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.
Abstract:
Severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) are being added to the Newborn Bloodspot Screening (NBS) programme in the Republic of Ireland. To support this expansion, we conducted a scoping review to identify reported timeframes for implementing national, regional or state-wide expanded NBS programmes. We performed a scoping review of the literature published between 2015 and 2025. Eligible articles described the timeframes for implementation of expanded NBS programmes for SCID, SMA or additional metabolic conditions. Sources included PubMed, Embase, citation searching, the International Journal of Neonatal Screening and grey literature. A narrative synthesis was undertaken. Fourteen articles met the inclusion criteria, describing the addition of new conditions-SCID (N = 7), SMA (N = 4), or multiple conditions (N = 3) to expanded NBS programmes in the United States (US), Europe (Belgium, Catalonia, the Czech Republic, Estonia, Germany, Norway, Poland, Portugal, Slovakia, Slovenia, Sweden, and Tuscany), Hong Kong and New Zealand. In most jurisdictions, the implementation of NBS programmes for new conditions took two to six years. The implementation of NBS for new conditions requires considerable time and coordinated efforts. Further research providing greater detail on the specific implementation steps, along with associated timelines, would provide valuable guidance for jurisdictions aiming to expand NBS programmes globally.
