下一代测序技术临床应用现状和发展趋势

The status quo and future prospects of the next generation sequencing technologies in clinical diagnostics

高通量测序技术逐步发展成熟,临床应用越来越广泛,特别是在无创产前检测、罕见遗传病和肿瘤预防诊断等领域,成为精准医疗不可或缺的技术手段.随着技术进步,长读长单分子测序开始崭露头角,下一代测序朝向单细胞、长读长、低成本和转录组方向发展.由于临床检测特殊性,当前国内高通量临床应用体系包括遗传咨询、检测标准、质控、监管、数据库建设等还不健全,还需要在实际应用中不断总结完善.

During the past decade, tremendous progress has been made in terms of speed, read length, and throughput, along with a sharp reduction in per-base cost.Together, these advances democratized next generation sequence （NGS） and paved the way for the development of a large number of novel NGS applications in clinical diagnostics, especially in the field of non-invasive prenatal detection, rare genetic disease and cancer companion diagnostics.As technology advances, long-read single molecule sequencing began to emerge.Single cell, long-reads, transcriptome, and low cost will be the NGS direction.Due to the special nature of clinical testing, the current NGS clinical application system,including genetic counseling, testing standards, quality control, supervision, database construction etc, does not match the national conditions well and still faces a few challenges, needs to be constantly improved through the routine clinical practice in the future.