Abstract

Screening metrics are essential to both quality assessment and improvement, but are highly dependent on the way positive tests and cases are counted. In cystic fibrosis (CF) screening, key factors include how mild cases of late-presenting CF and CF screen positive, inconclusive diagnosis (CFSPID) are counted, whether those at prior increased risk of CF are excluded from the screened population, and which aspects of the screening pathway are considered. This paper draws on the New Zealand experience of almost forty years of newborn screening for CF. We demonstrate how different definitions impact the calculation of screening sensitivity. We suggest that, to enable meaningful comparison, CF screening reports should clarify what steps in the screening pathway are included in the assessment, as well as the algorithm used and screening target.

Highlights

  • Most newborn screening programmes want to know how they are performing

  • This article explores the different definitions used in cystic fibrosis (CF) screening and the effects on screening metrics

  • Newborn screening for CF by the measurement of immunoreactive trypsin (IRT) in dried blood spots was developed in New Zealand [1], and this was the first national programme to adopt CF screening in 1981 [16]

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Summary

Introduction

Most newborn screening programmes want to know how they are performing. Local metrics, such as transit times for samples or the efficiency of short-term followup of unsuitable samples, are influenced by local conditions and can usefully be compared from time to time within a programme. Global metrics such as those used in public health (e.g., screening sensitivity, specificity, and positive predictive value) are widely used to compare performance between programmes. This article explores the different definitions used in cystic fibrosis (CF) screening and the effects on screening metrics

Target Disorder
Screened Population
Programme Boundaries
CF Screening Sensitivity Example
Conclusions
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