CareLit · DOI-Nachweis · Ethik in der Medizin
Towards genomic newborn screening, part II: outlining a normative framework
DOI 10.1007/s00481-025-00885-2
Bibliografische Angaben
Nachweis in CareLit
Autor:innenSettegast, S.; Alex, K.; Dikow, N.; Mütze, U.; Schnabel-Besson, E.; Doll, E.-S.; Mahal, J.; Neth, L.; Ditzen, B.; Kölker, S.; Müller-Terpitz, R.; Schaaf, C.-P.; Winkler, E.-C.
ZeitschriftEthik in der Medizin
Ausgabe3/2025
Jahrgang / SeitenJg. 37 · S. 257 bis 287
Kernaussage aus der Literatur
Abstract-Vorschau
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…
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Zitierempfehlung
Settegast, S.; Alex, K.; Dikow, N.; Mütze, U.; Schnabel-Besson, E.; Doll, E.-S.; Mahal, J.; Neth, L.; Ditzen, B.; Kölker, S.; Müller-Terpitz, R.; Schaaf, C.-P.; Winkler, E.-C (2025) Towards genomic newborn screening, part II: outlining a normative framework. Ethik in der Medizin, 37 (3), 257 bis 287. https://doi.org/10.1007/s00481-025-00885-2
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