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Contemporary cystic fibrosis incidence rates in Canada and the United States

Published:November 09, 2022DOI:https://doi.org/10.1016/j.jcf.2022.10.008

      Highlights

      • Increased population diversity in North America as well as carrier screening can impact incidence rates of cystic fibrosis (CF).
      • The widespread availability of newborn screening has shifted the timing of diagnosis which may impact decisions on future pregnancies.
      • National estimates are changing over time with significant variability between regions within countries.
      • Population diversity is likely contributing to varying incidence rates however, it does not fully explain the decreasing rates over time.

      Abstract

      Background

      The availability of new diagnostic algorithms for cystic fibrosis (CF), changing population demographics and programs that impact family planning decisions can influence incidence rates. Thus, previously reported incidence rates in Canada and the United States (US) may be outdated. The objectives of this study were to estimate contemporary CF incidence rates in Canada and the US and to determine if the incidence rate has changed over time.

      Method

      This population-based cohort study utilized data between 1995-2019 from the Canadian CF Registry (CCFR), Statistics Canada, US CF Foundation Patient Registry (CFFPR) data, and US Center for Disease Control (CDC) National Vital Statistics System. Incidence was estimated using the number of live CF births by year, sex, and geographic region using Poisson regression, with the number of live births used as the denominator. To account for delayed diagnoses, we imputed the proportion of diagnoses expected given historical trends, and varying rates of newborn screening (NBS) implementation by region.

      Results

      After accounting for implementation of NBS and delayed diagnoses, the estimated incidence rate for CF in 2019 was 1:3848 (95% CI: 1:3574, 1:4143) live births in Canada compared to 1:5130 (95% CI:1:4996, 1:5267) in the US. There was substantial regional variation in incidence rates within both Canada and the US. Since 1995, incidence rates have decreased at a rate of 1.6% per year in both countries (p<0.001).

      Conclusion

      Contemporary CF incidence rates suggest CF incidence is lower than previously reported and varies widely within North America. This information is important for resource planning and for tracking how programs (e.g., genetic counselling, modulator availability etc.) may impact the incidence of CF moving forward.

      Keywords

      Abbreviations:

      CCFR (Canadian CF Registry), CDC (Center for Disease Control), CF (cystic fibrosis), CFFPR (CF Foundation Patient Registry), CFTR (cystic fibrosis transmembrane regulatory protein), CI (confidence interval), CVSB (Canadian Vital Statistics Birth database), NBS (newborn screening), US (United States)
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