Application and prospect of next-generation sequencing in detection of infectious pathogens / 中华检验医学杂志

ABSTRACT

In recent years, with the rapid development and the continuous simplification of operation process, and the growth of detection flux, and the reduction of detection cost, high-throughput sequencing (HTS), also known as next-generation sequencing (NGS), has shown some technical advantages in the detection of infectious pathogens and been used widely. The direct strategies of clinical specimens using NGS technology include target amplification sequence and metagenomic sequence (mNGS), which are more widely used. mNGS is benefit to determine the type and relative number of microorganisms in clinical samples by directly detecting the pathogenic nucleic acid. It can help to determine the pathogen of infection without culturing the pathogenic bacteria. The current testing services are mostly provided by professional sequencing companies. The inspection and evaluation of the detection results and their application value should be carried out from the following technical indicators sequencing depth, number of reads, coverage, confidence and relative abundance. In addition, the use of NGS data can also accurately analyze the biological characteristics of pathogens (such as drug susceptibility), which has been well used in the detection of Mycobacterium tuberculosis. In the future, the rapid development of NGS in detection technology, detection process, detection performance, detection results application and other aspects will bring great technology and application innovation to clinical infection pathogen detection, and will also bring great challenges and development opportunities to relevant practitioners.