Opportunities, resources, and techniques for implementing genomics in clinical care
Opportunities, resources, and techniques for implementing genomics in clinical care
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DOI：
10.1016/s0140-6736(19)31140-7
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发表时间：
2019-08-10
期刊：
影响因子：
168.9
通讯作者：
Green, Eric D.
中科院分区：
文献类型：
--
作者：
Manolio, Teri A.;Rowley, Robb;Green, Eric D.
评估基因组变异技术的进步以及对基因组变异对健康和疾病影响的日益了解正在推动基因组学从研究实验室向临床护理的转变。基因组医学，或使用个体基因组信息作为临床护理的一部分，在常规实践中越来越被接受，包括评估个人及其家庭的疾病风险、诊断罕见和未诊断的疾病以及提高药物安全性和疗效。我们描述了目前具有临床重要性的基因组变异的主要类型和测量工具，回顾了解释基因组序列变异的方法，确定了用于基因组测试解释的公开工具和资源，并讨论了在常规临床实践中使用基因组信息的几个关键障碍。
Advances in technologies for assessing genomic variation and an increasing understanding of the effects of genomic variants on health and disease are driving the transition of genomics from the research laboratory into clinical care. Genomic medicine, or the use of an individual's genomic information as part of their clinical care, is increasingly gaining acceptance in routine practice, including in assessing disease risk in individuals and their families, diagnosing rare and undiagnosed diseases, and improving drug safety and efficacy. We describe the major types and measurement tools of genomic variation that are currently of clinical importance, review approaches to interpreting genomic sequence variants, identify publicly available tools and resources for genomic test interpretation, and discuss several key barriers in using genomic information in routine clinical practice.