二代测序在精准肿瘤学中的临床应用(CA, IF: 223.679)

SCI

 10 August 2019

Clinical Applications of Next-Generation Sequencing in Precision Oncology

• Karlovich CA, Williams PM. Clinical Applications of Next-Generation Sequencing in Precision Oncology. The Cancer Journal 2019;25:264-71. 

• Reprints: P. Mickey Williams, Leidos Biomedical Research Inc, Molecular Characterization Laboratory, Frederick National Laboratory for Cancer Research, 1050 Boyles St, 459/108, Frederick, MD 21702. E-mail: [e-mail].

The ability of next-generation sequencing (NGS) to comprehensively assess the molecular profile of a tumor specimen has transformed the clinical testing landscape in oncology. Accordingly, recent years have seen broad uptake of clinical NGS to inform cancer patient management. However, significant challenges remain. The annotation and clinical interpretation of variants identified by NGS tests often require rigorous review and may vary between laboratories. While a clearer regulatory path has emerged, reimbursement for NGS tests remains a subject of continuing debate. Basket clinical studies such as the National Cancer Institute Molecular Analysis of Therapy Choice are evaluating the degree to which matching of a targeted therapy to tumor molecular profile by NGS can be applied independently of tissue histology. Newer applications of NGS such as for circulating tumor DNA testing and to identify novel RNA fusion driver events continue to expand its clinical utility.

二代测序技术（NGS）能够全面评估肿瘤标本的分子分布，这改变了肿瘤临床检测的格局。因此，近年来已经看到临床广泛采用NGS进行癌症患者管理。然而，我们仍然面临重大挑战。通过NGS检测所识别的变异的注释和临床解释通常需要严格的审查，并且可能因实验室而异。虽然出现了更明确的监管路径，但对NGS检测的报销仍然是一个持续争论的主题。诸如国家癌症研究所分子治疗选择分析的篮子临床研究，正在评估NGS用于靶向治疗与肿瘤分子形态的匹配可以独立于组织形态学应用的程度。更新的应用，如用于循环肿瘤DNA检测和识别新的RNA融合驱动事件，继续扩展其临床应用。

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