Implementing genomic medicine in the clinic: the future is here.
Implementing genomic medicine in the clinic: the future is here.
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DOI：
10.1038/gim.2012.157
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发表时间：
2013-04
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虽然基因组学有助于临床护理的潜力早已被预期，但确定将基因组学发现纳入医疗实践的风险和益处的步伐相对缓慢。几个机构最近开始了基因组医学计划，遇到了许多相同的障碍，并开发了相同的解决方案，通常是独立的。认识到成功的早期经验可以为后续工作提供信息，国家人类基因组研究所将其中一些团体聚集在一起，描述他们正在进行的项目和挑战，确定共同的基础设施和研究需求，并概述调查和引入其他地方类似计划的实施框架。主要的挑战是：关于哪些基因组变异具有医学相关性的证据和共识有限;缺乏对基因组驱动的干预措施的补偿;以及患者和临床医生在分析、报告、干预和随访基因组发现方面的负担。关键的基础设施需求包括一个可公开访问的知识库，捕获序列变异及其表型关联，以及一个用于定义和编目临床可行变异的框架。多个机构积极参与在临床护理中使用基因组信息。这方面的工作大部分是单独进行的，如果进行更有条理的协作和分享最佳做法，将有所助益。遗传医学2013：15（4）：258-267
Although the potential for genomics to contribute to clinical care has long been anticipated, the pace of defining the risks and benefits of incorporating genomic findings into medical practice has been relatively slow. Several institutions have recently begun genomic medicine programs, encountering many of the same obstacles and developing the same solutions, often independently. Recognizing that successful early experiences can inform subsequent efforts, the National Human Genome Research Institute brought together a number of these groups to describe their ongoing projects and challenges, identify common infrastructure and research needs, and outline an implementation framework for investigating and introducing similar programs elsewhere. Chief among the challenges were limited evidence and consensus on which genomic variants were medically relevant; lack of reimbursement for genomically driven interventions; and burden to patients and clinicians of assaying, reporting, intervening, and following up genomic findings. Key infrastructure needs included an openly accessible knowledge base capturing sequence variants and their phenotypic associations and a framework for defining and cataloging clinically actionable variants. Multiple institutions are actively engaged in using genomic information in clinical care. Much of this work is being done in isolation and would benefit from more structured collaboration and sharing of best practices. Genet Med 2013:15(4):258–267
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