Ethical questions concerning newborn genetic screening.
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
01
06
2020
revised:
03
08
2020
accepted:
04
08
2020
pubmed:
12
8
2020
medline:
1
10
2021
entrez:
12
8
2020
Statut:
ppublish
Résumé
Newborn screening is a public health strategy used to identify certain diseases in the first days of life and, therefore, facilitate early treatment before the onset of symptoms. The decision of which diseases should be included in a screening goes beyond the medical perspective, including reasons for public health and health economics. There are a number of characteristics to include a disease in the screening, such as that the disorder must be a significant health problem, the natural history of the disease must be well known, a feasible and accurate test must be available, there must be a treatment that is most effective when applied before the onset of clinical symptoms and a health system must be in place that is capable of performing the procedure and subsequent monitoring. Currently, newborn screening programs are currently based on the use of biochemical markers that detect metabolites, hormones or proteins, but recently, the availability of new technology has allowed the possibility of a genetic screening. In addition to technical problems, the possibility of neonatal screening also presents a number of ethical problems. We identified and discussed six areas of particular concern: type of illness, overdiagnosis or overtreatment, information management and informed consent, data confidentiality and protection, justice and legal regulation.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
93-98Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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