纳米孔道检测新技术临床检验医学应用的机遇和挑战

Opportunities and challenges for nanopore-based clinical diagnostics

基于微流控的检测技术由于所需样本量少、快速和集成化等优点,在生物化学分析和临床分子诊断等领域取得了较快发展和广泛应用。以纳米孔测序和疾病标记物检测为代表的纳米流控检测,有望实现价格在1000美元以下、24小时内完成的个人全基因组测序,为临床基因检测、测序和分子诊断提供了新的强有力工具。在基因突变、传染病快速诊断、罕见病检测和产前诊断等临床研究中展示了单个测序反应长序列读取、无需扩增、即时读出、RNA直接测序等优点。然而其准确率、可重复性等制约仍有待解决。基于纳米孔道的新型检测技术在发展完善后将有潜力成为临床检验应用的重要工具,为检验医学的发展提供新的机遇。

The detection technology based on micro-nanofluidics has been developed fast with wide applications in biochemical analysis and clinical diagnostics because of its small sample volume requirement,rapid detection and portability.Recently,nanofluidics emerges for DNA sequencing and biomarker detection.With nanopore technology,whole genome sequence in 24 hours with a cost of lower than$1000 could be realized.However,improvement in the detection accuracy and repeatability are still desired for clinic diagnostics.Nanopore technology could be powerful tools for clinical diagnostics,providing new opportunities for laboratory medicine.