Newborn Sequencing in Genomic Medicine and Public Health.
Pediatrics
; 139(2)2017 Feb.
Article
en En
| MEDLINE
| ID: mdl-28096516
ABSTRACT
The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Salud Pública
/
Tamizaje Neonatal
/
Análisis de Secuencia de ADN
Tipo de estudio:
Clinical_trials
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
/
Newborn
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Pediatrics
Año:
2017
Tipo del documento:
Article