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本文引用的文献

1
Personalized health care as a pathway for the adoption of genomic medicine.个性化医疗保健是采用基因组医学的途径。
J Pers Med. 2012 Nov 13;2(4):232-40. doi: 10.3390/jpm2040232.
2
Making it personal: translational bioinformatics.使其个性化:转化生物信息学。
J Am Med Inform Assoc. 2013 Jul-Aug;20(4):595-6. doi: 10.1136/amiajnl-2013-002028.
3
Developing a prototype system for integrating pharmacogenomics findings into clinical practice.开发一个将药物基因组学研究结果整合到临床实践中的原型系统。
J Pers Med. 2012 Nov 20;2(4):241-56. doi: 10.3390/jpm2040241.
4
The CLIPMERGE PGx Program: clinical implementation of personalized medicine through electronic health records and genomics-pharmacogenomics.CLIPMERGE药物基因组学项目:通过电子健康记录以及基因组学-药物基因组学实现个性化医疗的临床应用
Clin Pharmacol Ther. 2013 Aug;94(2):214-7. doi: 10.1038/clpt.2013.72. Epub 2013 Apr 3.
5
The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation.药物基因组学研究网络转化药物遗传学计划:克服真实世界实施的挑战。
Clin Pharmacol Ther. 2013 Aug;94(2):207-10. doi: 10.1038/clpt.2013.59. Epub 2013 Mar 19.
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Enabling genomic-phenomic association discovery without sacrificing anonymity.在不牺牲匿名性的情况下实现基因组-表型关联发现。
PLoS One. 2013;8(2):e53875. doi: 10.1371/journal.pone.0053875. Epub 2013 Feb 6.
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Characterizing biobank organizations in the U.S.: results from a national survey.描述美国生物库组织的特征:一项全国性调查的结果。
Genome Med. 2013 Jan 25;5(1):3. doi: 10.1186/gm407. eCollection 2013.
8
Implementing genomic medicine in the clinic: the future is here.将基因组医学付诸临床实践:未来已来。
Genet Med. 2013 Apr;15(4):258-67. doi: 10.1038/gim.2012.157. Epub 2013 Jan 10.
9
Introduction to translational bioinformatics collection.转化生物信息学文集简介。
PLoS Comput Biol. 2012;8(12):e1002796. doi: 10.1371/journal.pcbi.1002796. Epub 2012 Dec 27.
10
Health information technology: standards, implementation specifications, and certification criteria for electronic health record technology, 2014 edition; revisions to the permanent certification program for health information technology. Final rule.《健康信息技术:电子健康记录技术的标准、实施规范及认证标准,2014年版;健康信息技术永久认证计划的修订》。最终规则。
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个性化医疗:转化生物信息学面临的挑战与机遇

Personalized medicine: challenges and opportunities for translational bioinformatics.

作者信息

Overby Casey Lynnette, Tarczy-Hornoch Peter

机构信息

Program in Personalized & Genomic Medicine and Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA.

出版信息

Per Med. 2013 Jul 1;10(5):453-462. doi: 10.2217/pme.13.30.

DOI:10.2217/pme.13.30
PMID:24039624
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3770190/
Abstract

Personalized medicine can be defined broadly as a model of healthcare that is predictive, personalized, preventive and participatory. Two US President's Council of Advisors on Science and Technology reports illustrate challenges in personalized medicine (in a 2008 report) and in use of health information technology (in a 2010 report). Translational bioinformatics is a field that can help address these challenges and is defined by the American Medical Informatics Association as "the development of storage, analytic and interpretive methods to optimize the transformation of increasing voluminous biomedical data into proactive, predictive, preventative and participatory health." This article discusses barriers to implementing genomics applications and current progress toward overcoming barriers, describes lessons learned from early experiences of institutions engaged in personalized medicine and provides example areas for translational bioinformatics research inquiry.

摘要

个性化医疗可以广义地定义为一种具有预测性、个性化、预防性和参与性的医疗保健模式。美国总统科学技术顾问委员会的两份报告阐述了个性化医疗(2008年报告)以及健康信息技术使用(2010年报告)方面的挑战。转化生物信息学是一个有助于应对这些挑战的领域,美国医学信息学协会将其定义为“开发存储、分析和解释方法,以优化将日益大量的生物医学数据转化为主动、预测、预防和参与性医疗的过程”。本文讨论了实施基因组学应用的障碍以及当前克服障碍的进展,描述了从从事个性化医疗的机构早期经验中吸取的教训,并提供了转化生物信息学研究探索的示例领域。