Newborn Screening for CF across the Globe- Where Is It Worthwhile?

Abstract

Newborn screening (NBS) for cystic fibrosis (CF) has been performed in many countries for as long as four decades and has transformed the routine method for diagnosing this genetic disease and improved the quality and quantity of life for people with this potentially fatal disorder. Each region has typically undertaken CF NBS after analysis of the advantages, costs, and challenges, particularly regarding the relationship of benefits to risks. The very fact that all regions that began screening for CF have continued their programs implies that public health and clinical leaders consider early diagnosis through screening to be worthwhile. Currently, many regions where CF NBS has not yet been introduced are considering options and in some situations negotiating with healthcare authorities as policy and economic factors are being debated. To consider the assigned question (where is it worthwhile?), we have completed a worldwide analysis of data and factors that should be considered when CF NBS is being contemplated. This article describes the lessons learned from the journey toward universal screening wherever CF is prevalent and an analytical framework for application in those undecided regions. In fact, the lessons learned provide insights about what is necessary to make CF NBS worthwhile.

Keywords: cost; cystic fibrosis; health policy; incidence; malnutrition; newborn screening.

Figure 1

Worldwide implementation of cystic fibrosis newborn screening as of 2020.

Figure 2

The sequence of processes and procedures linked together like a chain in the system of early diagnosis via newborn screening, reminding us that “a chain is only as strong as its weakest link.” Abbreviations include PCP—primary care provider; DBS—dried blood specimen.

Figure 3

The rationale for early diagnosis via newborn screening by applying the principle inherent in the preventive medicine strategy to detect disease before its symptomatic onset.

Figure 4

The many intrinsic and extrinsic variables (risk factors) that influence the course of cystic fibrosis and have much more impact on lung disease over a longer time period than those that affect nutritional status. The numerous environmental factors include exposures to smoke, virulent respiratory bacterial pathogens such as mucoid Pseudomonas aeruginosa, respiratory virus epidemics, etc.

Figure 5

Incidence of cystic fibrosis in Europe.

Figure 6

Incidence of cystic fibrosis in Asia.

Figure 7

Protocols used in newborn screening for cystic fibrosis in Europe in 2020. Abbreviations include IRT—immunoreactive trypsinogen; EGA—expanded or extended gene analysis; PAP—pancreatitis-associated protein.