[The example of cystic fibrosis to highlight the complexity of genetic screening].
Various institutions and countries often reach different conclusions about the utility of introducing a newborn screening test in the general population. This paper highlights the complexity of population screening including genetic tests. Using the example of cystic fibrosis genetic screening, for which a Swiss Working Group for Cystic Fibrosis is currently evaluating the pertinence, we outline that screening recommendations are often based more on expert opinion and emerging new technologies rather than on evidence. We also present some ethical and economic issues related to cystic fibrosis genetic screening.
Bochud
Murielle
M
Unité de prévention communautaire, IUMSP, CHUV, Lausanne. Murielle.Bochud@chuv.ch
Fellmann
Florence
F
Vader
John-Paul
JP
Grosse
Scott
S
Paccaud
Fred
F
Guessous
Idris
I
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D009154:Mutation
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator