2019年 · 第99卷第43期

high-throughput sequencing (HTS) is next generation sequencing (NGS), also known as massively parallel sequencing (MPS). Compared with traditional sequencing technology, high-throughput sequencing single-base detection has lower cost, faster speed, and can detect a large number of target genes at a time. Therefore, it is widely used in non-invasive prenatal screening of chromosome aneuploidy, tumor targeted therapy gene mutation detection, hereditary tumor detection, genetic disease and rare disease detection, pathogenic microorganism and metagenome detection, preimplantation genetic screening and preimplantation genetic diagnosis^[1]。

Although China's health undertakings are developing rapidly, the situation of insufficient per capita medical resources and unbalanced resource allocation has not fundamentally changed, and there is still a gap between the development of medical and health undertakings and people's requirements for a better life. Medical equipment, especially medical talents, are scarce in grass-roots rural areas and central and western regions. Even in first-tier cities such as Shanghai, there is an obvious unbalanced distribution of medical resources between regions, and the problem of difficulty in seeing a doctor has not been completely solved^[1]。 In accordance with the "Healthy China 2030" planning outline and the "Guiding Opinions on Promoting the Construction of Hierarchical Diagnosis and Treatment System"^[2]Requirements, establish a complete medical system with the first diagnosis at the grass-roots level and referral from the top to the bottom, realize the complementarity of medical advantages and resources between regions, and promote the process of homogenization of urban and rural medical and health services. In response to the requirements of national strategy and the rapid development of interconnected technology, medical services can break through the limitations of time and space, among which the characteristics of medical imaging make it naturally play a vanguard position in "Internet plus" medical care^[3]。