The development history and development direction of molecular diagnostics

With the intersection and integration of genomics, bioinformatics, proteomics and other multidisciplinary, molecular diagnostic technology has made great progress. More and more molecular diagnostic techniques are applied to the diagnosis, curative effect monitoring and prognosis of diseases, which provides new opportunities and challenges for the development of laboratory medicine. Molecular diagnostics is based on the theory of molecular biology, using molecular biology techniques and methods to study the changes in the presence, structure or expression regulation of human endogenous or exogenous biological macromolecules and macromolecular systems, which provide information and decision making for disease prevention., prediction, diagnosis, treatment and outcomes.

The development of molecular diagnostics

Reviewing the development history of molecular diagnostics for more than 20 years, it has gone through three stages: (1) genetic diagnosis of genetic diseases using DNA hybridization technology; (2) DNA diagnosis based on PCR technology, especially the application of quantitative PCR and real-time PCR, which can not only detect multiple DNA and RNA pathogen loads present in the host, but also detect mRNA expression in multi-gene genetic disease cells; (3) high-throughput intensive detection technology represented by biochip technology, biochip technology including gene chip, protein chip, tissue chip, etc., because its working principle and result processing process breaks through the traditional detection method, it not only has the characteristics of strong sample processing ability, wide application, high degree of automation, etc. With broad application prospects and commercial value, it has become a hot spot in the field of molecular diagnostic technology.

The direction of molecular diagnostics

The development history of molecular diagnostics has revealed its development direction: (1) the content of molecular diagnosis from the traditional DNA diagnosis to the comprehensive diagnosis of nucleic acids and their expression products (mRNA, protein); (2) the molecular diagnostic strategy from the use of single techniques such as molecular hybridization and PCR has been developed to the combined diagnosis of multiple techniques of organic combination; (3) the development of molecular diagnostic methods is from qualitative diagnosis to semi-quantitative and quantitative diagnosis, the development of nucleic acid labeling technology, especially fluorescent labeling technology, such as real-time PCR technology are becoming more and more mature; (4) Molecular diagnosis ranges from diagnosis of single-gene diseases (Mendel's hereditary diseases such as albinism, premature aging, hemoglobinopathy, hemophilia A, cystic fibrosis, fragile X), acquired genetic diseases (infectious pathogens such as hepatitis B virus, hepatitis C virus, human immunodeficiency virus, human papillomavirus, etc.) to diagnosis of polygenic diseases (tumor, heart and brain) vascular disease, metabolic disease, nervous system disease, autoimmune disease, etc.; (5) Application of molecular diagnosis from therapeutic diagnosis to preventive analysis, especially screening of disease genes or disease-related genes for high-risk groups.

Edited by Suzhou Yacoo Science Co., Ltd.