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.

中文翻译：

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实施基因组医学计划的早期经验。

大规模并行测序正在从研究环境转变为临床实践，从而帮助实现精密医学的愿景。最成功的应用程序是在学习型医疗保健系统的框架内使用实施科学的工具。本文研究了大规模平行测序在四种临床情况中的应用：药物基因组学，诊断测试，针对分子肿瘤特征的体细胞测试和人群筛查。对于每个应用程序，它都突出显示了一个示例程序，以说明实现的推动力和挑战。还提供了国际示例。这些早期的课程将使其他计划能够考虑到这些因素，从而有助于加速精准医学和健康的实施。