Department of Biomedical Engineering, School of Medicine, Kyung Hee University, Seoul, Korea.
BMB Rep. 2010 Oct;43(10):643-8. doi: 10.5483/BMBRep.2010.43.10.643.
Sir William Osler (1849-1919) recognized that "variability is the law of life, and as no two faces are the same, so no two bodies are alike, and no two individuals react alike and behave alike under the abnormal conditions we know as disease". Accordingly, the traditional methods of medicine are not always best for all patients. Over the last decade, the study of genomes and their derivatives (RNA, protein and metabolite) has rapidly advanced to the point that genomic research now serves as the basis for many medical decisions and public health initiatives. Genomic tools such as sequence variation, transcription and, more recently, personal genome sequencing enable the precise prediction and treatment of disease. At present, DNA-based risk assessment for common complex diseases, application of molecular signatures for cancer diagnosis and prognosis, genome-guided therapy, and dose selection of therapeutic drugs are the important issues in personalized medicine. In order to make personalized medicine effective, these genomic techniques must be standardized and integrated into health systems and clinical workflow. In addition, full application of personalized or genomic medicine requires dramatic changes in regulatory and reimbursement policies as well as legislative protection related to privacy. This review aims to provide a general overview of these topics in the field of personalized medicine.
威廉·奥斯勒爵士（1849-1919）曾指出：“变异性是生命的法则，就像没有两张脸是相同的，因此也没有两个身体是相同的，在我们所知的疾病等异常情况下，没有两个个体的反应和行为是相同的”。因此，传统的医学方法并不总是对所有患者都最好。在过去的十年中，基因组及其衍生物（RNA、蛋白质和代谢物）的研究迅速发展，以至于基因组研究现在成为许多医学决策和公共卫生计划的基础。基因组工具，如序列变异、转录，以及最近的个人基因组测序，使疾病的精确预测和治疗成为可能。目前，基于 DNA 的常见复杂疾病风险评估、用于癌症诊断和预后的分子特征应用、基于基因组的治疗以及治疗药物的剂量选择是个性化医学的重要问题。为了使个性化医学有效，这些基因组技术必须标准化并整合到卫生系统和临床工作流程中。此外，个性化或基因组医学的充分应用需要对监管和报销政策以及与隐私相关的立法保护进行重大改变。本综述旨在提供个性化医学领域中这些主题的概述。
