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From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs

Newborn screening (NBS) programs are considered among the most effective and efficient measures of secondary prevention in medicine. In individuals with medical conditions, genomic sequencing has become available in routine healthcare, and results from exome or genome sequencing may help to guide tr...

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Hauptverfasser: Dikow, Nicola (VerfasserIn) , Ditzen, Beate (VerfasserIn) , Kölker, Stefan (VerfasserIn) , Hoffmann, Georg F. (VerfasserIn) , Schaaf, Christian P. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: February 17, 2022
In: Medizinische Genetik
Year: 2022, Jahrgang: 34, Heft: 1, Pages: 13-20
ISSN:1863-5490
DOI:10.1515/medgen-2022-2113
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1515/medgen-2022-2113
Verlag, lizenzpflichtig, Volltext: https://www.degruyterbrill.com/document/doi/10.1515/medgen-2022-2113/html
Volltext
Verfasserangaben:Nicola Dikow, Beate Ditzen, Stefan Kölker, Georg F. Hoffmann, and Christian P. Schaaf
Beschreibung
Zusammenfassung:Newborn screening (NBS) programs are considered among the most effective and efficient measures of secondary prevention in medicine. In individuals with medical conditions, genomic sequencing has become available in routine healthcare, and results from exome or genome sequencing may help to guide treatment decisions. Genomic sequencing in healthy or asymptomatic newborns (gNBS) is feasible and reveals clinically relevant disorders that are not detectable by biochemical analyses alone. However, the implementation of genomic sequencing in population-based screening programs comes with technological, clinical, ethical, and psychological issues, as well as economic and legal topics. Here, we address and discuss the most important questions to be considered when implementing gNBS, such as “which categories of results should be reported” or “which is the best time to return results”. We also offer ideas on how to balance expected benefits against possible harms to children and their families.
Beschreibung:Gesehen am 13.07.2022
Beschreibung:Online Resource
ISSN:1863-5490
DOI:10.1515/medgen-2022-2113

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