摘要
精准医疗是在诊疗过程中充分考虑患者个体在基因、环境、生活方式等方面差异的医学手段,基因检测是实现精准医疗的重要方式。自人类基因组数据成功解析以来,人们对遗传因素在心血管疾病发生、发展和转归中的作用有了更深刻的认识。迅速崛起的精准医疗围绕心血管疾病的预防和治疗,将基础医学、临床医学和转化医学有机结合,不仅推动了心血管疾病遗传学研究的快速进展,且为制定个体化疾病诊疗方案奠定了基础。遗传变异和基因多态性是冠心病的重要发病因素,基因检测不仅可识别冠心病高危人群,且能够针对不同分子病理途径制定最佳预防和治疗策略,进而促进精准医学的应用。本文将着重介绍基因检测在冠心病及其相关危险因素预防、诊断和治疗中的作用。
Precision medicine is a medical method that fully considers the differences of individual pa⁃tients in gene,environment,life style,and so on in the process of diagnosis and treatment.Gene testing is an important way to realize precision medicine.Since the human genome data was analyzed,people have a deeper understanding of the role of genetic factors in the occurrence,development and prognosis of cardiovascular dis⁃eases.The emerging precision medicine improves the prevention and treatment of diseases through big data,pro⁃motes the progress of genetic research on cardiovascular diseases,and sets the foundation of individualized med⁃icine,which organically combines clinical medicine,basic medicine,and transformational medicine.Genetic variation and gene polymorphism are important factors leading to coronary heart disease.We can not only identi⁃fy people at high risk of coronary heart disease,but also formulate the best prevention and treatment strategies according to different molecular pathological pathways by genetic detection.All of these approaches promote the application of precision medicine.This review focused on the application of genetic testing in the prevention,diagnosis,and treatment of coronary heart disease and its related diseases.
作者
陈文
周洲
CHEN Wen;ZHOU Zhou(Center of Laboratory Medicine,State Key Laboratory of Cardiovascular Diseases,Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases,Fuwai Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,National Center for Cardiovascular Diseases,Beijing 100037,China)
出处
《协和医学杂志》
CSCD
2021年第4期445-449,共5页
Medical Journal of Peking Union Medical College Hospital
基金
国家自然科学基金(82070326)
中国医学科学院医学与健康科技创新工程(2016⁃I2M⁃1⁃016)。
关键词
基因检测
冠心病
精准医疗
风险预测
心血管药物基因组
genetic testing
coronary heart disease
precision medicine
risk prediction
cardiovascular pharmacogenomics