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将基因组学融入医疗保健：全球的责任。

Integrating Genomics into Healthcare: A Global Responsibility.

机构信息

Australian Genomics Health Alliance, Melbourne VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne VIC 3052, Australia.

Global Alliance for Genomics and Health, 661 University Avenue, Suite 510, Toronto, ON M5G 0A3, Canada; Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, ON M5G 0A3, Canada.

出版信息

Am J Hum Genet. 2019 Jan 3;104(1):13-20. doi: 10.1016/j.ajhg.2018.11.014.

DOI:10.1016/j.ajhg.2018.11.014
PMID:30609404
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6323624/
Abstract

Genomic sequencing is rapidly transitioning into clinical practice, and implementation into healthcare systems has been supported by substantial government investment, totaling over US$4 billion, in at least 14 countries. These national genomic-medicine initiatives are driving transformative change under real-life conditions while simultaneously addressing barriers to implementation and gathering evidence for wider adoption. We review the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provide a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.

摘要

基因组测序正迅速进入临床实践，至少 14 个国家已投入超过 40 亿美元的大量政府资金支持其在医疗保健系统中的应用。这些国家的基因组医学计划在现实条件下推动变革，同时解决实施障碍并为更广泛的采用收集证据。我们回顾了英国、法国、澳大利亚和美国的国家基因组医学计划在方法上的多样性和当前取得的进展，并为国际上分享策略、标准和数据以加速实施提供了路线图。

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本文引用的文献

[1]
ClinVar at five years: Delivering on the promise.

Hum Mutat. 2018-11

[2]
ClinGen advancing genomic data-sharing standards as a GA4GH driver project.

Hum Mutat. 2018-11

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N Engl J Med. 2018-10-10

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Genet Med. 2018-10-5

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Genet Med. 2018-9-21

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Value Health. 2018-8-14

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Genet Med. 2018-9-13

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Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.

Mol Genet Genomic Med. 2018-11

[10]
A roadmap for restoring trust in Big Data.

Lancet Oncol. 2018-8

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