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From genes to public health: are we ready for DNA-based population screening?

作者信息

Khoury Muin J, Dotson W David

机构信息

Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, GA, USA.

出版信息

Genet Med. 2021 Jun;23(6):996-998. doi: 10.1038/s41436-021-01141-w. Epub 2021 Mar 31.

DOI:10.1038/s41436-021-01141-w
PMID:33790422
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9215315/
Abstract
摘要

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本文引用的文献

1
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).基于DNA的筛查与个人健康：美国医学遗传学与基因组学学会（ACMG）为个人和医疗服务提供者提供的一份需考虑要点声明
Genet Med. 2021 Jun;23(6):979-988. doi: 10.1038/s41436-020-01083-9. Epub 2021 Mar 31.
2
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).基于DNA的筛查与群体健康：美国医学遗传学与基因组学学会（ACMG）为项目及赞助组织提供的一份需考虑要点声明
Genet Med. 2021 Jun;23(6):989-995. doi: 10.1038/s41436-020-01082-w. Epub 2021 Mar 16.
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Strategic vision for improving human health at The Forefront of Genomics.基因组学前沿改善人类健康的战略愿景。
Nature. 2020 Oct;586(7831):683-692. doi: 10.1038/s41586-020-2817-4. Epub 2020 Oct 28.
4
Expanding Use of Clinical Genome Sequencing and the Need for More Data on Implementation.临床基因组测序的应用扩展及实施方面更多数据的需求
JAMA. 2020 Nov 24;324(20):2029-2030. doi: 10.1001/jama.2020.19933.
5
Bringing monogenic disease screening to the clinic.将单基因疾病筛查引入临床。
Nat Med. 2020 Aug;26(8):1172-1174. doi: 10.1038/s41591-020-1017-y.
6
DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps.基于DNA的群体筛查：潜在适用性与重要知识空白
JAMA. 2020 Jan 28;323(4):307-308. doi: 10.1001/jama.2019.18640.
7
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.评估和实施人类基因组测序以改善健康的适当应用的合作转化研究框架。
PLoS Med. 2018 Aug 2;15(8):e1002631. doi: 10.1371/journal.pmed.1002631. eCollection 2018 Aug.
8
From public health genomics to precision public health: a 20-year journey.从公共卫生基因组学到精准公共卫生：20 年的历程。
Genet Med. 2018 Jun;20(6):574-582. doi: 10.1038/gim.2017.211. Epub 2017 Dec 14.
9
Prioritizing genomic applications for action by level of evidence: a horizon-scanning method.按证据水平优先考虑基因组应用的行动：一种 horizon-scanning 方法。
Clin Pharmacol Ther. 2014 Apr;95(4):394-402. doi: 10.1038/clpt.2013.226. Epub 2014 Feb 19.
10
We screen newborns, don't we?: realizing the promise of public health genomics.我们对新生儿进行筛查，不是吗？：实现公共卫生基因组学的前景。
Genet Med. 2013 May;15(5):332-4. doi: 10.1038/gim.2013.11. Epub 2013 Mar 7.