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全球实施基因组医学:我们并不孤单。

Global implementation of genomic medicine: We are not alone.

机构信息

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-9305, USA.

Université Libre de Bruxelles 1070 Brussels, Belgium.

出版信息

Sci Transl Med. 2015 Jun 3;7(290):290ps13. doi: 10.1126/scitranslmed.aab0194.

DOI:10.1126/scitranslmed.aab0194
PMID:26041702
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4898888/
Abstract

Around the world, innovative genomic-medicine programs capitalize on singular capabilities arising from local health care systems, cultural or political milieus, and unusual selected risk alleles or disease burdens. Such individual efforts might benefit from the sharing of approaches and lessons learned in other locales. The U.S. National Human Genome Research Institute and the National Academy of Medicine recently brought together 25 of these groups to compare projects, to examine the current state of implementation and desired near-term capabilities, and to identify opportunities for collaboration that promote the responsible practice of genomic medicine. Efforts to coalesce these groups around concrete but compelling signature projects should accelerate the responsible implementation of genomic medicine in efforts to improve clinical care worldwide.

摘要

在全球范围内,创新的基因组医学计划利用当地医疗保健系统、文化或政治环境以及独特的选定风险等位基因或疾病负担所产生的单一能力。这些单独的努力可能受益于分享其他地方的方法和经验教训。美国国家人类基因组研究所和美国国家医学院最近召集了这 25 个组织,对项目进行比较,研究当前的实施情况和期望的近期能力,并确定促进负责任的基因组医学实践的合作机会。将这些组织凝聚在具体但引人注目的标志性项目周围的努力,应该会加速负责任地实施基因组医学,以改善全球临床护理。

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本文引用的文献

1
Genetics, genomics and society: the responsibilities of scientists for science communication and education.遗传学、基因组学与社会:科学家在科学传播与教育方面的责任。
Per Med. 2012 Aug;9(6):633-643. doi: 10.2217/pme.12.69.
2
Bridging genomics research between developed and developing countries: the Genomic Medicine Alliance.搭建发达国家与发展中国家之间的基因组学研究桥梁:基因组医学联盟。
Per Med. 2014 Sep;11(7):615-623. doi: 10.2217/pme.14.59.
3
The international serious adverse events consortium.国际严重不良事件联合会。
Nat Rev Drug Discov. 2014 Nov;13(11):795-6. doi: 10.1038/nrd4441.
4
Economic evaluation of pharmacogenomics: a value-based approach to pragmatic decision making in the face of complexity.药物基因组学的经济学评估:面对复杂性时基于价值的务实决策方法。
Public Health Genomics. 2014;17(5-6):256-64. doi: 10.1159/000366177. Epub 2014 Sep 26.
5
Personalized pharmacogenomics profiling using whole-genome sequencing.使用全基因组测序进行个性化药物基因组学分析
Pharmacogenomics. 2014 Jun;15(9):1223-34. doi: 10.2217/pgs.14.102.
6
Pharmacogenomics of drug-induced hypersensitivity reactions: challenges, opportunities and clinical implementation.药物诱导过敏反应的药物基因组学:挑战、机遇和临床实施。
Asian Pac J Allergy Immunol. 2014 Jun;32(2):111-23.
7
Pharmacogenomics: Current State-of-the-Art.药物基因组学:最新进展。
Genes (Basel). 2014 May 26;5(2):430-43. doi: 10.3390/genes5020430.
8
Medical genomics: Gather and use genetic data in health care.医学基因组学:在医疗保健中收集和使用遗传数据。
Nature. 2014 Apr 24;508(7497):451-3. doi: 10.1038/508451a.
9
Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics.基因组医学中医师能力发展框架:基因组学医师教育跨学会协调委员会能力工作组报告
Genet Med. 2014 Nov;16(11):804-9. doi: 10.1038/gim.2014.35. Epub 2014 Apr 24.
10
Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs.下一代药物基因组学面临的关键挑战:《科学与社会》系列之《科学与药物》
EMBO Rep. 2014 May;15(5):472-6. doi: 10.1002/embr.201438641. Epub 2014 Apr 10.