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Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China
Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next‐generation sequencing. Empirical and theoretical data support the utility of expanded carrier screening. The authors prop...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331423/ https://www.ncbi.nlm.nih.gov/pubmed/32851227 http://dx.doi.org/10.1002/ped4.12021 |
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author | Shen, Yiping Qiu, Xiaoxia Gui, Baohen He, Sheng Huang, Hefeng Xue, Jingjie Xu, Xiangming Zhang, Xue He, Lin |
author_facet | Shen, Yiping Qiu, Xiaoxia Gui, Baohen He, Sheng Huang, Hefeng Xue, Jingjie Xu, Xiangming Zhang, Xue He, Lin |
author_sort | Shen, Yiping |
collection | PubMed |
description | Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next‐generation sequencing. Empirical and theoretical data support the utility of expanded carrier screening. The authors propose a comprehensive carrier screening program as a main component of the first‐tier measure in preventing severe genetic disorders and birth defects in China. We discussed the key principles and important aspects to ensure the success of such a program. The authors believe this program will play a pivotal role in our endeavor for a healthier nation. |
format | Online Article Text |
id | pubmed-7331423 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-73314232020-08-25 Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China Shen, Yiping Qiu, Xiaoxia Gui, Baohen He, Sheng Huang, Hefeng Xue, Jingjie Xu, Xiangming Zhang, Xue He, Lin Pediatr Investig Reviews Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next‐generation sequencing. Empirical and theoretical data support the utility of expanded carrier screening. The authors propose a comprehensive carrier screening program as a main component of the first‐tier measure in preventing severe genetic disorders and birth defects in China. We discussed the key principles and important aspects to ensure the success of such a program. The authors believe this program will play a pivotal role in our endeavor for a healthier nation. John Wiley and Sons Inc. 2018-05-11 /pmc/articles/PMC7331423/ /pubmed/32851227 http://dx.doi.org/10.1002/ped4.12021 Text en © 2018 Chinese Medical Association. Pediatric Investigation published by John Wiley & Sons Australia, Ltd on behalf of Futang Research Center of Pediatric Development. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Reviews Shen, Yiping Qiu, Xiaoxia Gui, Baohen He, Sheng Huang, Hefeng Xue, Jingjie Xu, Xiangming Zhang, Xue He, Lin Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China |
title | Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China |
title_full | Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China |
title_fullStr | Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China |
title_full_unstemmed | Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China |
title_short | Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China |
title_sort | implementing comprehensive genetic carrier screening in china―harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in china |
topic | Reviews |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331423/ https://www.ncbi.nlm.nih.gov/pubmed/32851227 http://dx.doi.org/10.1002/ped4.12021 |
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