A Review of Newborn Screening Programs for Cystic Fibrosis: Are Current Protocols Appropriate for Canada's Diverse
Stephanie Y Cheng1, Berke Sahin2, Noma Abdulrahem1
1Cystic Fibrosis Canada, Toronto, Ontario, Canada.
Insights
Canadian newborn screening (NBS) for cystic fibrosis (CF) identifies over 96% of cases but may miss 12%-20% of non-White individuals, potentially widening health inequities.
Area of Science:
- Medical Genetics
- Public Health
- Pediatrics
Background:
- Newborn screening (NBS) for cystic fibrosis (CF) improves outcomes for people with CF (pwCF).
- Canadian NBS programs vary in protocols and genetic variants tested, potentially leading to inequities.
- This study aimed to identify gaps in Canadian CF NBS programs that could drive inequities.
Purpose of the Study:
- To summarize Canadian CF NBS programs.
- To assess potential inequities in CF screening and diagnosis.
Main Methods:
- Publicly available data and direct program consultations were used to detail Canadian CF NBS programs.
- The Canadian CF Registry (CCFR) identified individuals with CF in 2022.
- CFTR variant panels were applied to the CCFR to estimate NBS identification proportions.
Main Results:
- All Canadian jurisdictions include CF in NBS, using immunoreactive trypsinogen (IRT) and genetic testing.
- Current NBS panels identified over 96% of the Canadian CF population in the CCFR.
- Screening panels were less effective for non-White individuals, those born before 2018, and those diagnosed as children.
Conclusions:
- While Canadian NBS programs identify most CF cases, they may miss a significant proportion of non-White individuals.
- As Canada's population diversifies, NBS protocols may require updates to prevent widening screening and diagnostic inequities.
- Ensuring equitable CF screening across diverse populations is crucial for improving health outcomes for all pwCF.
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.
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