二代测序临床报告解读指引
Standards and Guidelines for the Interpretation of Next Generation Sequencing Clinical Reports
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摘要: 二代测序(next generation sequencing,NGS)已成为中国临床肿瘤医生常用检测工具,而中国超90%临床医生需要NGS报告解读支持。因此,为提升临床医生NGS报告解读能力,特编写了NGS临床报告解读指引,以帮助临床医生梳理NGS报告解读逻辑,快速抓取关键信息,同时尽可能规避过度解读基因组信息导致的潜在危害。本文从临床靶点或驱动基因相关体细胞变异注释及解读、NGS报告解读及临床决策、可报告范围及质量控制等方面详细介绍了NGS报告解读应遵循的恰当的结构化循证原则,正确理解NGS报告的逻辑结构、抓取关键信息并综合分析,为肿瘤患者带来切实的临床获益。帮助医生在综合浏览完一份样本检出的所有分子变异后,结合患者的基本临床信息以及既往或同期其他配对样本检测结果,综合判断患者疾病的全面分子特征谱及其演化过程,了解这些信息所提示的生物学意义和临床意义,最终做出正确的临床决策。Abstract: In China, next generation sequencing(NGS) has became a common molecular testing tool used by clinical oncologists, however, NGS clinical reports could be overwhelming for some clinicians who are unfamiliar with NGS. Approximately 90% of clinicians are dependent on external support for the interpretation of NGS reports. In order to improve the clinicians' ability to interpret and derive more information from NGS reports, a working group comprised of clinical oncologists and NGS professionals from all over China have compiled relevant standards and guidelines to equip the clinicians with the knowledge to identify the key information and avoid the over-interpretation of genomic information from NGS clinical reports. This article provides a detailed introduction on the logically structured evidenced-based principles of NGS reports including the interpretation of somatic mutations related to clinical targets or driver genes, the proper interpretation of genomic results to inform clinical decision-making, reportable scope, sample quality control, and other relevant information included in NGS clinical reports. With a better grasp on the information from NGS reports, the clinicians should be able to integrate the basic clinical information, other past or present test results, and the molecular profile of the patient to comprehensively assess the patient's disease and tailor a treatment strategy that will benefit the patient.