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Towards genomic newborn screening, part I: Mapping the ethical issues

Newborn screening (NBS) is an internationally successful program for the secondary prevention of rare congenital diseases. At present, most of the target conditions in NBS are diagnosed by biochemical markers. Recent advances in genomic sequencing and in the bioinformatic evaluation of genetic varia...

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Main Authors: Settegast, Sascha (Author) , Alex, Karla (Author) , Dikow, Nicola (Author) , Mütze, Ulrike (Author) , Schnabel-Besson, Elena (Author) , Doll, Elena Sophia (Author) , Mahal, Julia (Author) , Neth, Lars (Author) , Ditzen, Beate (Author) , Kölker, Stefan (Author) , Müller-Terpitz, Ralf (Author) , Schaaf, Christian P. (Author) , Winkler, Eva C. (Author)
Format: Article (Journal)
Language:English
Published: September 2025
In: Ethik in der Medizin
Year: 2025, Volume: 37, Issue: 3, Pages: 223-255
ISSN:1437-1618
DOI:10.1007/s00481-025-00884-3
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1007/s00481-025-00884-3
Verlag, kostenfrei, Volltext: https://link.springer.com/article/10.1007/s00481-025-00884-3
Resolving-System, kostenfrei: https://doi.org/10.25673/121292
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Author Notes:Sascha Settegast, Karla Alex, Nicola Dikow, Ulrike Mütze, Elena Schnabel-Besson, Elena Sophia Doll, Julia Mahal, Lars Neth, Beate Ditzen, Stefan Kölker, Ralf Müller-Terpitz, Christian P. Schaaf, Eva C. Winkler
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Summary:Newborn screening (NBS) is an internationally successful program for the secondary prevention of rare congenital diseases. At present, most of the target conditions in NBS are diagnosed by biochemical markers. Recent advances in genomic sequencing and in the bioinformatic evaluation of genetic variants will soon make it feasible however to expand NBS significantly by testing newborns directly for pathogenic variants. Yet, genomic newborn screening (gNBS) raises important ethical issues that require resolution, given that several pilot studies on gNBS implementation are already underway. Given a rapidly growing scholarly engagement with the ethics of gNBS, a more systematic and comprehensive mapping of the ethical issues and considerations relevant to gNBS is needed to move the debate forward at this point.
Item Description:Online veröffentlicht: 2. September 2025, Artikelversion: 2. September 2025
Gesehen am 10.11.2025
Physical Description:Online Resource
ISSN:1437-1618
DOI:10.1007/s00481-025-00884-3

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