The main goal of newborn screening (NBS) programs is to detect infants with a treatable disease early, in order to initiate treatment [
]. This noble endeavour seemed straightforward when initially proposed when the spectrum of disease manifestation from gene mutations (or anticipated gene mutations for a disease like cystic fibrosis (CF) which was known to be inherited) was thought to be all or none. We now know the situation is more complicated, with clinical manifestations resulting from mutations in the CF transmembrane conductance regulator (CFTR) gene ranging from “classic” pancreatic insufficient CF to CFTR-related disorder or none at all. In an era in which technology enables new options for CF NBS it is essential to re-evaluate the goals of screening. In this issue of the Journal there are two papers about the diagnosis of CF which at face value seem to ask different questions, but are both probing a bigger question, how should we diagnose CF from NBS?
- Wilson J.M.G.
- Jungner G.
Principles and Practice of Screening for Disease.
World Health Organization, Geneva1968
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- Principles and Practice of Screening for Disease.World Health Organization, Geneva1968 (Public Health papers No.34)
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Published online: January 23, 2023
Accepted: January 17, 2023
Received: January 17, 2023
© 2023 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.