| |  Online-Ressource |
|---|
| Verfasst von: | Dikow, Nicola [VerfasserIn]  |
|---|
| | Ditzen, Beate [VerfasserIn] |
|---|
| | Kölker, Stefan [VerfasserIn] |
|---|
| | Hoffmann, Georg F. [VerfasserIn] |
|---|
| | Schaaf, Christian P. [VerfasserIn] |
|---|
| Titel: | From newborn screening to genomic medicine |
|---|
| Titelzusatz: | challenges and suggestions on how to incorporate genomic newborn screening in public health programs |
|---|
| Verf.angabe: | Nicola Dikow, Beate Ditzen, Stefan Kölker, Georg F. Hoffmann, and Christian P. Schaaf |
|---|
| E-Jahr: | 2022 |
|---|
| Jahr: | February 17, 2022 |
|---|
| Umfang: | 8 S. |
|---|
| Fussnoten: | Gesehen am 13.07.2022 |
|---|
| Titel Quelle: | Enthalten in: Medizinische Genetik |
|---|
| Ort Quelle: | Berlin : de Gruyter, 1998 |
|---|
| Jahr Quelle: | 2022 |
|---|
| Band/Heft Quelle: | 34(2022), 1, Seite 13-20 |
|---|
| ISSN Quelle: | 1863-5490 |
|---|
| Abstract: | 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. |
|---|
| DOI: | doi:10.1515/medgen-2022-2113 |
|---|
| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1515/medgen-2022-2113 |
|---|
| | Volltext: https://www.degruyter.com/document/doi/10.1515/medgen-2022-2113/html |
|---|
| | DOI: https://doi.org/10.1515/medgen-2022-2113 |
|---|
| Datenträger: | Online-Ressource |
|---|
| Sprache: | eng |
|---|
| Sach-SW: | and social aspects) |
|---|
| | ELSA (ethical |
|---|
| | genomic medicine |
|---|
| | genomic newborn screening |
|---|
| | legal |
|---|
| | public health |
|---|
| | return of results |
|---|
| K10plus-PPN: | 1810082218 |
|---|
| Verknüpfungen: | → Zeitschrift |
|---|
From newborn screening to genomic medicine / Dikow, Nicola [VerfasserIn]; February 17, 2022 (Online-Ressource)
