Next-generation sequencing to guide cancer therapy.
Next-generation sequencing to guide cancer therapy.
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DOI：
10.1186/s13073-015-0203-x
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发表时间：
2015
期刊：
影响因子：
12.3
通讯作者：
Van Allen EM
中科院分区：
文献类型：
--
作者：
Gagan J;Van Allen EM
由于多项技术和实践的进步，高通量测序，更常见的称为“下一代”测序（NGS），现在可以纳入标准临床实践。虽然早期的方案依赖于在典型的临床病理学工作流程之外收获的样本，但标准福尔马林固定的石蜡包埋标本可以更经常地用作NGS的起始材料。此外，用于分析和解释NGS数据的协议以及知识库正在积累，使临床医生能够在患者护理点更容易地对基因组信息采取行动。与此同时，靶向通过临床NGS鉴定的体细胞突变基因的新疗法正在获得美国食品和药物管理局（FDA）的批准，新的临床试验设计正在出现，其中遗传标识符与组织学具有同等重要性。对于临床肿瘤学提供者来说，了解DNA测序的潜力和局限性对于在这个精准医学时代提供基因组驱动的护理至关重要。
As a result of multiple technological and practical advances, high-throughput sequencing, known more commonly as “next-generation” sequencing (NGS), can now be incorporated into standard clinical practice. Whereas early protocols relied on samples that were harvested outside of typical clinical pathology workflows, standard formalin-fixed, paraffin-embedded specimens can more regularly be used as starting materials for NGS. Furthermore, protocols for the analysis and interpretation of NGS data, as well as knowledge bases, are being amassed, allowing clinicians to act more easily on genomic information at the point of care for patients. In parallel, new therapies that target somatically mutated genes identified through clinical NGS are gaining US Food and Drug Administration (FDA) approval, and novel clinical trial designs are emerging in which genetic identifiers are given equal weight to histology. For clinical oncology providers, understanding the potential and the limitations of DNA sequencing will be crucial for providing genomically driven care in this era of precision medicine.