个体化检测及其临床应用·述评·-达安基因.pdf

分子诊断与治疗杂志 2009 年9 月第1卷第4 期 J Mol Diagn Ther, November 2009, Vol. 1 No. 4 ·217 · ·述评· 个体化检测及其临床应用 1,2 2★ 孙士鹏 李金明 [摘 要] 随着人类基因组计划的发展，基因检测被视为能显著提高个体化医学能力的关键，基因组 学相关技术的发展可改进疾病预测的诊断方法，包括疾病的早期诊断，疾病发展的分子（基因）表征和对治 疗反应的预测。虽然基因组学指导下的个体化医学仍处在早期开发阶段，但是个体化检测已开始用于患者 护理的指导，本文对当前个体化检测及其临床应用做一简要评述。 [关键词 个体化检测；个体化医学；基因检测；基因组学] Personalized test and its clinical application SUN Shipeng1,2 , LI Jinming2 ★ (1.Graduate School, Peking Union Medical College, Chinese Academy of Medical Sciences, People ’s Republic of China, Beijing 100730, China; 2.National Center for Clinical Laboratories, Beijing Hospital, People ’s Republic of China, Beijing 100730, China） [ABSTRACT] In the wake of the Human Genome Project, genetic tests are increasingly seen as the key to dramatic improvements in clinicians ’ability to individualize health care. The advent of genomic technologies has now offered the genomic information to develop improved diagnostic methods for disease prediction, including early detection of disease, molecular (genetic) characterization of the disease process, and the prediction of response to treatment. While personalized medicine guided by genomics is still in early stages of development, personalized genetic tests are already starting to be used to guide patient care. Here, we make a brief introduction about the current personalized genetic test and its clinical applications . [KEYWORDS] Personalized test; Personalized medicine; Genetic test; Genomics [2] 在当前基因组学尤其是药物基因组学迅速发展 费用和避免副作用 。全基因组分析、蛋白质组学和 [3] 的背景下，个体化医学的概念被提出来。个体化医学