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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.
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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。
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Clinical and genetic predictors of renal dysfunctions in sickle cell anaemia in Cameroon.喀麦隆镰状细胞贫血患者肾功能障碍的临床和遗传预测因素
Br J Haematol. 2017 Aug;178(4):629-639. doi: 10.1111/bjh.14724. Epub 2017 May 3.
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Performance Ratio Based Resource Allocation Decision-Making in Genomic Medicine.基于性能比的基因组医学资源分配决策
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5
Economic analysis of pharmacogenomic-guided clopidogrel treatment in Serbian patients with myocardial infarction undergoing primary percutaneous coronary intervention.塞尔维亚心肌梗死患者接受直接经皮冠状动脉介入治疗时,基于药物基因组学指导的氯吡格雷治疗的经济学分析。
Pharmacogenomics. 2016 Nov;17(16):1775-1784. doi: 10.2217/pgs-2016-0052. Epub 2016 Oct 21.
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Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy.基因组医学中的检测定价与报销:迈向通用策略
Public Health Genomics. 2016;19(6):352-363. doi: 10.1159/000449152. Epub 2016 Sep 28.
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A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.欧洲药物基因组生物标志物谱:对临床药物基因组学的影响
PLoS One. 2016 Sep 16;11(9):e0162866. doi: 10.1371/journal.pone.0162866. eCollection 2016.
8
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.靶向基因组富集和大规模平行测序在喀麦隆家庭中鉴定出新型非综合征性听力损失致病变异。
Clin Genet. 2016 Sep;90(3):288-90. doi: 10.1111/cge.12799. Epub 2016 Jun 1.
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An Alternative Methodological Approach for Cost-Effectiveness Analysis and Decision Making in Genomic Medicine.基因组医学中成本效益分析与决策的一种替代方法学途径。
OMICS. 2016 May;20(5):274-82. doi: 10.1089/omi.2016.0018. Epub 2016 Apr 20.
10
Current needs for human and medical genomics research infrastructure in low and middle income countries.低收入和中等收入国家人类与医学基因组学研究基础设施的当前需求
J Med Genet. 2016 Jul;53(7):438-40. doi: 10.1136/jmedgenet-2015-103631. Epub 2016 Jan 6.

无国界基因组医学:发展中国家应采用哪些策略投资精准医学?一种新的“快速第二赢家”策略。

Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New "Fast-Second Winner" Strategy.

机构信息

1 School of Medicine, University of Athens , Athens, Greece .

2 Institute of Medical Genetics, School of Medicine, Cardiff University , Cardiff, United Kingdom .

出版信息

OMICS. 2017 Nov;21(11):647-657. doi: 10.1089/omi.2017.0141.

DOI:10.1089/omi.2017.0141
PMID:29140767
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6436026/
Abstract

Genomic medicine has greatly matured in terms of its technical capabilities, but the diffusion of genomic innovations worldwide faces significant barriers beyond mere access to technology. New global development strategies are sorely needed for biotechnologies such as genomics and their applications toward precision medicine without borders. Moreover, diffusion of genomic medicine globally cannot adhere to a "one-size-fits-all-countries" development strategy, in the same way that drug treatments should be customized. This begs a timely, difficult but crucial question: How should developing countries, and the resource-limited regions of developed countries, invest in genomic medicine? Although a full-scale investment in infrastructure from discovery to the translational implementation of genomic science is ideal, this may not always be feasible in all countries at all times. A simple "transplantation of genomics" from developed to developing countries is unlikely to be feasible. Nor should developing countries be seen as simple recipients and beneficiaries of genomic medicine developed elsewhere because important advances in genomic medicine have materialized in developing countries as well. There are several noteworthy examples of genomic medicine success stories involving resource-limited settings that are contextualized and described in this global genomic medicine innovation analysis. In addition, we outline here a new long-term development strategy for global genomic medicine in a way that recognizes the individual country's pressing public health priorities and disease burdens. We term this approach the "Fast-Second Winner" model of innovation that supports innovation commencing not only "upstream" of discovery science but also "mid-stream," building on emerging highly promising biomarker and diagnostic candidates from the global science discovery pipeline, based on the unique needs of each country. A mid-stream entry into innovation can enhance collective learning from other innovators' mistakes upstream in discovery science and boost the probability of success for translation and implementation when resources are limited. This à la carte model of global innovation and development strategy offers multiple entry points into the global genomics innovation ecosystem for developing countries, whether or not extensive and expensive discovery infrastructures are already in place. Ultimately, broadening our thinking beyond the linear model of innovation will help us to enable the vision and practice of genomics without borders in both developed and resource-limited settings.

摘要

基因组医学在技术能力方面已经非常成熟,但全球基因组创新的传播除了获得技术之外,还面临着重大障碍。迫切需要制定新的全球发展战略,以促进基因组学等生物技术及其在无边界精准医学中的应用。此外,基因组医学在全球的传播不能采用“一刀切”的发展战略,就像药物治疗应该个性化定制一样。这就引出了一个及时、困难但至关重要的问题:发展中国家,以及发达国家资源有限的地区,应该如何投资基因组医学?虽然从发现到基因组科学的转化实施,全面投资基础设施是理想的,但并非所有国家在任何时候都能做到这一点。简单地将基因组学从发达国家“移植”到发展中国家不太可行。发展中国家也不应该被视为基因组医学的简单接受者和受益者,因为基因组医学的重要进展也在发展中国家实现了。在这个全球基因组医学创新分析中,有几个涉及资源有限环境的基因组医学成功案例,这些案例都有背景介绍和描述。此外,我们在这里概述了一种新的长期全球基因组医学发展战略,这种战略认识到每个国家紧迫的公共卫生重点和疾病负担。我们将这种方法称为“快速第二赢家”创新模式,该模式不仅支持从发现科学的“上游”开始创新,还支持从中游开始创新,利用全球科学发现管道中新兴的高潜力生物标志物和诊断候选物,根据每个国家的独特需求。从中游进入创新可以从发现科学的上游创新者的错误中吸取集体经验教训,并在资源有限的情况下提高转化和实施的成功率。这种针对全球创新和发展战略的点菜模式为发展中国家提供了多个进入全球基因组创新生态系统的切入点,无论是否已经建立了广泛而昂贵的发现基础设施。最终,超越创新的线性模式,将有助于我们在发达和资源有限的环境中实现无边界基因组学的愿景和实践。