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The incidence of cystic fibrosis
M R Kosorok1, W H Wei, P M Farrell
1Department of Statistics, University of Wisconsin-Madison 53792, USA.
Insights
This study estimates cystic fibrosis (CF) incidence in US infants, finding a higher rate in whites than non-whites. The model accounts for under-diagnosis, revealing similar diagnosis ages across racial groups.
Area of Science:
- Epidemiology
- Biostatistics
- Genetics
Background:
- Cystic Fibrosis (CF) diagnosis is often delayed, leading to underestimation of incidence.
- Accurate incidence data is crucial for understanding CF prevalence and resource allocation.
- Previous estimates may not fully account for pre-diagnosis mortality.
Purpose of the Study:
- To develop a statistical model for estimating CF incidence in US infants.
- To account for under-diagnosis due to death before diagnosis.
- To apply the model to historical patient registry data.
Main Methods:
- Developed a statistical model incorporating survival analysis and semi-parametric maximum likelihood estimation.
- Utilized multiple imputation and bootstrap techniques for robust estimation.
- Applied the model to Cystic Fibrosis Foundation Patient Registry data (1989-1991).
Main Results:
- Estimated CF incidence: 1:3,419 for whites and 1:12,163 for non-whites.
- Average age at diagnosis was similar for whites (4.09 years) and non-whites (4.55 years).
- CF mortality appeared more severe in females and marginally higher in non-whites.
Conclusions:
- The developed model provides a more accurate estimation of CF incidence by addressing under-diagnosis.
- Diagnosis age and efforts appear similar across racial groups, despite incidence differences.
- Mortality patterns suggest potential disparities requiring further investigation.
Abstract:
We develop a statistical model for estimating cystic fibrosis (CF) incidence among infants born in the U.S.A. that accounts for under-diagnosis due to death prior to diagnosis and we apply it to the Cystic Fibrosis Foundation Patient Registry data for the years 1989 to 1991. The resulting estimate of incidence relative to live births among whites is 1:3419 while that among non-whites is 1:12,163. As a by-product of the modelling approach, estimates of the underlying average diagnosis age given survival to diagnosis are 4.09 years for whites and 4.55 years for non-whites, but this difference was not statistically significant and appears to demonstrate that diagnosis efforts may be approximately the same for whites and non-whites. Also, as another by-product of the modelling approach, CF mortality was estimated as more severe for females than males and marginally more severe for non-whites than whites. A variety of statistical methods underlie achievement of these results, including semi-parametric maximum likelihood, survival analysis, multiple imputation and bootstrap techniques.