New tools and approaches to newborn screening: ready to open Pandora's box?

The landscape of newborn screening (NBS) is changing as new tools are developed. We must acknowledge that NBS is a very important and extraordinarily positive initiative especially for rare and serious inherited disorders; however, lessons learned from current NBS should guide the future of NBS as w...

Descripción completa

Detalles Bibliográficos
Autor principal: Ficicioglu, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411690/
https://www.ncbi.nlm.nih.gov/pubmed/28487886
http://dx.doi.org/10.1101/mcs.a001842
_version_ 1783232848889643008
author Ficicioglu, Can
author_facet Ficicioglu, Can
author_sort Ficicioglu, Can
collection PubMed
description The landscape of newborn screening (NBS) is changing as new tools are developed. We must acknowledge that NBS is a very important and extraordinarily positive initiative especially for rare and serious inherited disorders; however, lessons learned from current NBS should guide the future of NBS as we enter the era of “omics” that will expand NBS for many other genetic disorders. In this article, I will first discuss new tools such as genomics and metabolomics for NBS. I will then turn to assessing how best to take advantage of new technical developments while considering the best interests of patients and the success of newborn screening.
format Online
Article
Text
id pubmed-5411690
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Cold Spring Harbor Laboratory Press
record_format MEDLINE/PubMed
spelling pubmed-54116902017-05-09 New tools and approaches to newborn screening: ready to open Pandora's box? Ficicioglu, Can Cold Spring Harb Mol Case Stud Commentary The landscape of newborn screening (NBS) is changing as new tools are developed. We must acknowledge that NBS is a very important and extraordinarily positive initiative especially for rare and serious inherited disorders; however, lessons learned from current NBS should guide the future of NBS as we enter the era of “omics” that will expand NBS for many other genetic disorders. In this article, I will first discuss new tools such as genomics and metabolomics for NBS. I will then turn to assessing how best to take advantage of new technical developments while considering the best interests of patients and the success of newborn screening. Cold Spring Harbor Laboratory Press 2017-05 /pmc/articles/PMC5411690/ /pubmed/28487886 http://dx.doi.org/10.1101/mcs.a001842 Text en © 2017 Ficicioglu; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/) , which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.
spellingShingle Commentary
Ficicioglu, Can
New tools and approaches to newborn screening: ready to open Pandora's box?
title New tools and approaches to newborn screening: ready to open Pandora's box?
title_full New tools and approaches to newborn screening: ready to open Pandora's box?
title_fullStr New tools and approaches to newborn screening: ready to open Pandora's box?
title_full_unstemmed New tools and approaches to newborn screening: ready to open Pandora's box?
title_short New tools and approaches to newborn screening: ready to open Pandora's box?
title_sort new tools and approaches to newborn screening: ready to open pandora's box?
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411690/
https://www.ncbi.nlm.nih.gov/pubmed/28487886
http://dx.doi.org/10.1101/mcs.a001842
work_keys_str_mv AT ficicioglucan newtoolsandapproachestonewbornscreeningreadytoopenpandorasbox

Ejemplares similares