The role and challenges of molecular pathological diagnosis in precision medicine
Molecular diagnostics allow physicians to classify patients with the same disease in a clinically effective manner to identify specific disease subtypes that are sensitive to certain treatments and treatments. The pathological diagnosis of tumor-based diseases is relatively classic, but molecular diagnosis is not as simple as we think. Key Laboratory of Immunopathology, Ministry of Education, Director of the National Army and Chongqing Key Laboratory of Pathology. The country's Jieqing, "Changjiang Scholars", 973 chief scientist, "Millions of Plan" leading talents, is currently the chairman of the National, All Army and Chongqing Provincial Pathology Committee. Tumors, especially malignant tumors, are currently the top disease killers. The vast majority of tumors are less harmful, such as benign and glial tumors. The effects of malignant tumors on the body are distant metastasis and local infiltration. Some tumors appear to be benign, but due to different sites, some tumors develop malignantly. Unfortunately, in the early stages of these tumors, we have no way to diagnose. The risk factors for tumor pathogenesis are invasive growth and metastasis. For tumors that will not invade and metastasize in the future, radiotherapy and chemotherapy are not needed, which is difficult to give a clear answer in pathology. These problems require precision diagnosis and accurate prediction in precision medicine in the future. Yan Xiuwu (Director, Institute of Pathology, Third Military Medical University) The understanding of genetic changes and the transformation of the mechanisms of occurrence have led us to have more treatments for the treatment of malignant tumors. However, these methods are not optimistic, some methods are harmful to the body, and some are limited because of the unclear target. China entered the era of precision medicine in July last year. Precision medicine is translational medicine and personalized medicine to link up the treatment of genetic diseases and malignancies forward. Precision medicine tasks and goals Precision medicine is the diagnosis of diseases through genetic testing, the use of genetic technology to develop targeted drugs for gene repair, thereby increasing the accuracy of disease diagnosis, the maximum effectiveness of treatment and the minimization of side effects, the main motivation is based on genomics and sequencing Advances in technology. To define precision medicine from the perspective of clinical medicine, precision medicine is based on large sample research to obtain the molecular mechanism and omics of disease, and apply clinical medicine according to the specificity of individual patients in genotype, phenotype, environment and lifestyle. , molecular genetics, bioinformatics, molecular pathology, molecular imaging and other technical means, to develop personalized precision prevention, accurate diagnosis and accurate treatment programs under the guidance of disease molecular classification. In order to achieve accurate medical treatment , we must first establish a biological sample library, especially multi-center large sample cases, integrate the resources of the sample library and combine clinical symptoms, signs, molecular imaging, pathological performance, etc. to conduct a series of omics testing, through group learning The formation of biological big data (cloud medicine) is used to guide the formulation of clinical decisions and to achieve accurate diagnosis and treatment of diseases. The premise of the core tasks of precision medicine is accurate diagnosis, followed by precise treatment and precise prevention. I think the ultimate goal of precision medicine is mainly the following four aspects: Accurately optimize the diagnosis and treatment results; Innovate and standardize treatment options; Avoid over-medical treatment, especially for developing countries; Genetic counseling and precision prevention. Precision medicine not only has clear scientific significance and clinical practice significance, but also national strategic significance. Therefore, we should independently carry out innovative medical theory and practice research in line with China's national conditions.
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