ArticlePediatric pulmonology2025
A Review of Newborn Screening Programs for Cystic Fibrosis: Are Current Protocols Appropriate for Canada's Diverse Population?
Article in Pediatric pulmonology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed.
- Evolution of the New York State Cystic Fibrosis Newborn Screening Algorithm: Two Decades of Experience.Pediatric pulmonology · 2026Article
- A Review of Newborn Screening Programs for Cystic Fibrosis: Are Current Protocols Appropriate for Canada's Diverse Population?Pediatric pulmonology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
Abstract
backgroundEarly diagnosis of cystic fibrosis (CF) through newborn screening (NBS) programs has improved health outcomes in people with CF (pwCF). NBS programs can vary in specific protocols and genetic variants tested, which may not perform equitably for all infants. The objective of this study was to summarize the Canadian CF NBS programs to understand if there are any gaps that may drive inequities.
methodsDetails about each of the Canadian CF NBS programs were gathered by collating publicly available information and consulting directly with each program. The Canadian CF Registry (CCFR) was used to identify Canadians with CF in 2022, to estimate the proportion of individuals that would have been identified by each NBS program in Canada.
resultsAll jurisdictions in Canada include CF in their NBS programs, which follow a similar multistep process: (1) evaluation of immunoreactive trypsinogen (IRT), (2) genetic testing of a predefined set of variants. Most jurisdictions analyzed IRT locally, whereas genetic testing was centralized to five programs. Applying the current NBS CFTR variant panels from each program to the 4445 individuals in the CCFR identified over 96% of the Canadian CF population. All variant screening panels were more likely to identify pwCF who were: (1) born before 2018, (2) diagnosed as children, and (3) described as White.
interpretationCanadian NBS panels would have captured over 96% of all people in the CCFR; however, they would fail to identify 12%-20% of non-White individuals. As Canada's population becomes more diverse, updates to NBS programs may be needed to ensure inequities in screening and diagnosis do not further widen.
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