Genetic testing includes: PCR, FISH, chip technology, gene sequencing . Gene sequencing technology is a type of genetic testing. Gene sequencing currently has one generation of sequencing (Sanger sequencing), second generation sequencing (illumina/Life Tech), and third generation sequencing (single molecule sequencing). PCR, FISH and chip technology, mainly through the known sequence to investigate the presence or absence of a specific sequence or site, focusing on the "detection", while the gene sequencing technology is to nucleotide the gene sequence one by one. Tested out, the focus is on "measurement." The most widely used is the second generation sequencing, namely NGS.

Although there are many opinions in the industry, due to the highest accuracy of gene sequencing, as the cost of gene sequencing declines, the final sequencing technology will replace PCR, FISH and chip technology. But we believe that this view is one-sided. First of all, FISH technology, due to the specificity of the cells in situ, combined with the pathological morphology of cells, has its irreplaceable role. Second, the presence of tumor heterogeneity, many tumor-driven genes, is based on copy number changes, or combined gene mutations and rearrangements. The copy number binding mutation rearrangement changes not only require full exon or even whole genome for deep sequencing. However, there are some clear point mutations and rearrangement and copy number changes. At present, there are many mature technologies that can be easily dealt with. The use of all in one is to look at the application of new technologies in clinical practice. Just like a high-speed rail, there is no need for express trains. And freight trains, with such huge weapons of destruction as nuclear weapons, are as naive as conventional weapons.

解析肿瘤二代基因测序NGS的应用现状

Classification of sequencing applications

(1) Non-human genome applications include: scientific research, agricultural applications, environmental pollution monitoring, etc.

(2) Applications related to the human genome and health diseases mainly include: judicial identification, consumer application, and medical application.

At present, medical-grade applications include: reproductive health (NIPT, preimplantation embryo genetic diagnosis), hereditary disease testing, cardiovascular disease, infectious diseases, pharmacogenomics and new drug development, physical examination and disease screening, medical foundation Research, gut microbiota, tumor diagnosis and treatment. Gene sequencing technology for medical grade applications is an important component of precision medicine and a hotspot for the application of gene sequencing technology.

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