| 摘要: | 精準醫療是指與患者分子生物病理學特徵相匹配的個體化診斷和治療策略。腫瘤為一複雜和多樣性疾病，在分子遺傳上具有很大異質性，即使相同病理類型的癌症患者，對抗癌藥物反應迥異，因此精準化的疾病篩查、診斷、治療等醫療模式將成為未來醫療發展的趨勢。隨著多組學和大數據時代的到來，檢驗組學這一綜合性科學應運而生。檢驗組學是綜合基因組學、蛋白組學、代謝組學、免疫組學及藥物基因組學等多組學的檢驗數據結果，並利用大數據的計算方法對各個組學的數據指標進行分析、篩選、分類、整合的多領域交叉學科。通過大數據、高通量的數據分析方法，可得到更加精準的病理指標可信區間，完善疾病的早期預警診斷體系，形成個體化的生物醫學信息庫，以滿足精準診斷、精準治療的要求。本文介紹精準醫療的概念、目標和意義，簡述實施精準醫療的方法和技術，介紹基因突變檢測和檢驗組學在腫瘤精準醫療的臨床應用發展，在最后總述精準醫療的發展方向及展望。
Precision medicine refers to individualized diagnosis and treatment strategies that match the molecular bio-pathological characteristics of patients. Tumors are a complex and diverse disease, with great genetic heterogeneity. Even cancer patients of the same pathology type have very different responses to the drugs. Therefore, precise medical screening, diagnosis, treatment and other medical models will become the trend of future medical development. With the advent of omics and big data era, the comprehensive science of inspection omics came into being. Inspection omics is the result of comprehensive inspection data of genomics, proteomics, metabolomics, immunology and pharmacogenomics, etc., and use the big data calculation method to analyze, filter, classify, and integrate. Through big data and high-throughput data analysis methods, more accurate pathological index confidence intervals can be obtained, improve the early warning and diagnosis system of diseases and form an individualized biomedical information database to meet the requirements of precision diagnosis treatment. This article introduces the concept, goal and significance of precision medicine, briefly introduces the methods and techniques of implementing precision medicine, introduces the clinical application development of gene mutation detection and inspection omics in tumor precision medicine, and finally summarizes the development direction and prospect of precision medicine. |
