五、总结

除上述应用外，基因组检测技术也被广泛应用于肿瘤的诊断和靶向治疗的选择。例如通过检测肺癌患者的肿瘤组织中是否携带 EGFR 或 K-ras 的基因突变、是否存在 ALK-EML4 融合基因等，以此对患者的治疗方案进行指导。研究显示，与常规化疗相比，对携带特异性突变的患者进行靶向治疗可将患者的无进展中位生存期提高8~10个月。

在病原微生物的发现上，宏基因组的基因组检测技术在新冠病毒的发现和鉴定中起到了关键作用。复旦大学张永振团队首先从一名患者的肺泡灌洗液样本中提取到病毒，利用宏转录组测序技术准确地测定了病毒的全基因组序列，上传到GenBank，并指出了它和SARS病毒的相似度 ^［22］ ，随后中国疾病预防控制中心谭文杰团队分析了病毒的变异位点和进化树 ^［23］ 。我国科研单位对于新冠病毒的迅速发现与测序是后续开发快速、有效的核酸检测试剂盒的基础，是对患者准确诊断和有效控制疫情的基础，得到了各国政府和WHO的高度评价。

总而言之，应用基因检测技术，我们进行了疾病致病基因的定位，实现了临床遗传病早期诊断，指导了特异性的药物开发，并进行着精准的个体化用药指导。可以说，基因检测在精准医学中发挥着不可或缺的作用。

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（怀聪，孙一丹，王卓，乔中东，师咏勇） ULq154hMNs/P4moBJQzF79xFEgJ3CIPtiiLlgSB6qZ3GAt4CE66wdJTbBwBzdqMk