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建立中低收入国家大规模基因组医学计划的路线图。

Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries.

机构信息

University of Patras School of Health Sciences, Department of Pharmacy, Patras 265 04, Greece; United Arab Emirates University, College of Medicine and Health Sciences, Department of Pathology, Al-Ain, UAE; United Arab Emirates University, Zayed Center of Health Sciences, Al-Ain, UAE.

Medical Center of Crete, Irakleion, 700 03, Greece.

出版信息

Am J Hum Genet. 2020 Oct 1;107(4):589-595. doi: 10.1016/j.ajhg.2020.08.005.

DOI:10.1016/j.ajhg.2020.08.005
PMID:33007198
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7536572/
Abstract

In the post-genomic era, genomic medicine interventions as a key component of personalized medicine and tailored-made health care are greatly anticipated following recent scientific and technological advances. Indeed, large-scale sequencing efforts that explore human genomic variation have been initiated in several, mostly developed, countries across the globe, such as the United States, the United Kingdom, and a few others. Here, we highlight the successful implementation of large-scale national genomic initiatives, namely the Genome of Greece (GoGreece) and the DNA do Brasil (DNABr), aiming to emphasize the importance of implementing such initiatives in developing countries. Based on this experience, we also provide a roadmap for replicating these projects in other low-resource settings, thereby bringing genomic medicine in these countries closer to clinical fruition.

摘要

在后基因组时代,基于最近的科学技术进步,基因组医学干预作为个性化医学和定制化医疗的关键组成部分备受期待。事实上,全球多个国家(如美国、英国和其他一些国家)已经开展了大规模的人类基因组变异探索测序工作。在这里,我们强调了成功实施大规模国家基因组计划的重要性,例如希腊基因组计划(GoGreece)和巴西 DNA 计划(DNABr),旨在强调在发展中国家实施此类计划的重要性。基于这一经验,我们还为在其他资源匮乏的环境中复制这些项目提供了路线图,从而使这些国家的基因组医学更接近临床实现。

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本文引用的文献

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Genomic insight into the origins and dispersal of the Brazilian coastal natives.巴西沿海原住民起源与扩散的基因组解析
Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2372-2377. doi: 10.1073/pnas.1909075117. Epub 2020 Jan 13.
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Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance.拉丁美洲人在外表上表现出广泛的改宗者祖先和当地本土祖先的印记。
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A critical view of the general public's awareness and physicians' opinion of the trends and potential pitfalls of genetic testing in Greece.对希腊公众对基因检测趋势和潜在陷阱的认知以及医生看法的批判性审视。
Per Med. 2011 Sep;8(5):551-561. doi: 10.2217/pme.11.48.
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Critical appraisal of the private genetic and pharmacogenomic testing environment in Greece.希腊私人基因检测和药物基因组检测环境的批判性评估。
Per Med. 2011 Jul;8(4):413-420. doi: 10.2217/pme.11.24.
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Ascertainment and critical assessment of the views of the general public and healthcare professionals on nutrigenomics in Greece.希腊公众和医疗保健专业人员对营养基因组学观点的确定与批判性评估。
Per Med. 2012 Mar;9(2):201-210. doi: 10.2217/pme.12.3.
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Critical appraisal of the views of healthcare professionals with respect to pharmacogenomics and personalized medicine in Greece.对希腊医疗保健专业人员关于药物基因组学和个性化医疗观点的批判性评估。
Per Med. 2014 Jan;11(1):15-26. doi: 10.2217/pme.13.92.
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The Brazilian Longitudinal Study of Aging (ELSI-Brazil): Objectives and Design.巴西老龄化纵向研究(ELSI-Brazil):目标和设计。
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