Early Lessons from the Implementation of Genomic Medicine Programs.

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-02-27 DOI:10.1146/annurev-genom-083118-014924
Marc S Williams
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引用次数: 33

Abstract

Massively parallel sequencing is emerging from research settings into clinical practice, helping the vision of precision medicine to become a reality. The most successful applications are using the tools of implementation science within the framework of the learning health-care system. This article examines the application of massively parallel sequencing to four clinical scenarios: pharmacogenomics, diagnostic testing, somatic testing for molecular tumor characterization, and population screening. For each application, it highlights an exemplar program to illustrate the enablers and challenges of implementation. International examples are also presented. These early lessons will allow other programs to account for these factors, helping to accelerate the implementation of precision medicine and health.

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基因组医学项目实施的早期经验教训。
大规模平行测序正在从研究环境进入临床实践,帮助精准医学的愿景成为现实。最成功的应用是在学习型卫生保健系统框架内使用实施科学的工具。本文探讨了大规模平行测序在四种临床场景中的应用:药物基因组学、诊断测试、分子肿瘤表征的体细胞测试和人群筛查。对于每个应用程序,它突出显示了一个范例程序,以说明实现的推动因素和挑战。还介绍了国际上的例子。这些早期的经验教训将使其他项目能够考虑到这些因素,有助于加速精准医疗和健康的实施。
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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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