Cargando…
Newborn screening in the genomics era
Newborn screening (NBS) exists in every state for the purpose of testing newborns for genetic medical conditions that can be severe, may be treatable, and are often not clinically evident at birth. While almost all of the diseases screened for in newborns have underlying genetic causes, NBS in its c...
Autor principal: | |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033535/ https://www.ncbi.nlm.nih.gov/pubmed/27774176 http://dx.doi.org/10.1093/jlb/lsu027 |
_version_ | 1782455163849539584 |
---|---|
author | Rego, Shannon |
author_facet | Rego, Shannon |
author_sort | Rego, Shannon |
collection | PubMed |
description | Newborn screening (NBS) exists in every state for the purpose of testing newborns for genetic medical conditions that can be severe, may be treatable, and are often not clinically evident at birth. While almost all of the diseases screened for in newborns have underlying genetic causes, NBS in its current form is performed not by testing for genetic mutations, but by testing for biochemical markers that indicate a disorder. The potential use of whole-genome newborn screening (WG-NBS) as an alternative to the current biochemical testing utilized for NBS would dramatically expand the quantity and types of information parents could learn from screening and is likely to have many implications, both positive and negative. As whole-genome sequencing (WGS) becomes more economical, it probably will be used for the purposes of NBS. However, such an expansion of NBS would contradict many of the principles that have historically guided public health screening programs and, if implemented without sufficient preparation, could result in insufficient infrastructure to accommodate the health care and data management needs that would arise. This article will first look at the past and present of NBS, then the rise of whole genome sequencing, before considering the challenges of WG-NBS, and will end with some thoughts on the path forward. |
format | Online Article Text |
id | pubmed-5033535 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-50335352016-10-21 Newborn screening in the genomics era Rego, Shannon J Law Biosci New Developments Newborn screening (NBS) exists in every state for the purpose of testing newborns for genetic medical conditions that can be severe, may be treatable, and are often not clinically evident at birth. While almost all of the diseases screened for in newborns have underlying genetic causes, NBS in its current form is performed not by testing for genetic mutations, but by testing for biochemical markers that indicate a disorder. The potential use of whole-genome newborn screening (WG-NBS) as an alternative to the current biochemical testing utilized for NBS would dramatically expand the quantity and types of information parents could learn from screening and is likely to have many implications, both positive and negative. As whole-genome sequencing (WGS) becomes more economical, it probably will be used for the purposes of NBS. However, such an expansion of NBS would contradict many of the principles that have historically guided public health screening programs and, if implemented without sufficient preparation, could result in insufficient infrastructure to accommodate the health care and data management needs that would arise. This article will first look at the past and present of NBS, then the rise of whole genome sequencing, before considering the challenges of WG-NBS, and will end with some thoughts on the path forward. Oxford University Press 2014-10-16 /pmc/articles/PMC5033535/ /pubmed/27774176 http://dx.doi.org/10.1093/jlb/lsu027 Text en © The Author 2014. Published by Oxford University Press on behalf of Harvard Law School, Oxford University Press, and Stanford Law School. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/3.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | New Developments Rego, Shannon Newborn screening in the genomics era |
title | Newborn screening in the genomics era |
title_full | Newborn screening in the genomics era |
title_fullStr | Newborn screening in the genomics era |
title_full_unstemmed | Newborn screening in the genomics era |
title_short | Newborn screening in the genomics era |
title_sort | newborn screening in the genomics era |
topic | New Developments |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033535/ https://www.ncbi.nlm.nih.gov/pubmed/27774176 http://dx.doi.org/10.1093/jlb/lsu027 |
work_keys_str_mv | AT regoshannon newbornscreeninginthegenomicsera |