Pediatric pulmonology · 2025
A Review of Newborn Screening Programs for Cystic Fibrosis: Are Current Protocols Appropriate for Canada's Diverse Population?
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Cheng Stephanie Y, Sahin Berke, Abdulrahem Noma, Eckford Paul D W, Zysman-Colman Zofia, Chilvers Mark, Stephenson Anne L, Arpin Jocelyn, Donnelly Christine, Doyle Karen, Fernandez Sara, Filiaggi Corey, Liu Zaiping, Nowak Angela, Smith Mary Jane, Stanojevic Sanja
Аннотация
BACKGROUND: Early 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.
METHODS: Details 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.
RESULTS: All 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.
INTERPRETATION: Canadian 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.
METHODS: Details 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.
RESULTS: All 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.
INTERPRETATION: Canadian 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.