Zou Yu-Bao, Hui Ru-Tai, Song Lei
Hypertension Center, Department of Cardiology, National Center for Cardiovascular Diseases, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China.
Chronic Dis Transl Med. 2020 Jan 17;5(4):214-220. doi: 10.1016/j.cdtm.2019.12.005. eCollection 2019 Dec.
Gene diagnosis refers to the use of genetic testing in the diagnosis of inheritable conditions, which has gradually been applied in clinical practice with the completion of the gene sequencing efforts of the Human Genome Project and the advancement of gene detection technology. In the specialty field of cardiology, monogenic cardiovascular diseases are defined as monogenic inherited diseases with cardiovascular damage as the only phenotype, or accompanied by cardiovascular damage. Although the incidence of such diseases is relatively low, in the country of China with its vast population of 1.33 billion, the sheer volume of patients with monogenic cardiovascular diseases is alarming. With early onset, severe symptoms, and poor prognosis, delays in diagnosis and treatment of monogenic cardiovascular diseases often have serious consequences. Gene testing is perfectly suited for early diagnosis of monogenic cardiovascular diseases, especially for "pre-symptomatic" diagnosis. In this article, we generally review the characteristics of common monogenic cardiovascular diseases, summarize the progress of the standardized application of gene testing technology in clinical practice, describe the applicable population and condition of genetic testing for different monogenic cardiovascular diseases, analyze the practicality of genetic diagnosis of these inheritable conditions, and provide guidance on identifying suitable candidates for gene diagnosis. In conclusion, gene diagnosis provides new insights into the way physicians diagnose diseases, and is well-positioned to guide clinical decision making and treatment, especially in cardiology.
基因诊断是指利用基因检测来诊断遗传性疾病，随着人类基因组计划基因测序工作的完成以及基因检测技术的进步，基因诊断已逐渐应用于临床实践。在心脏病学专业领域，单基因心血管疾病被定义为以心血管损害为唯一表型或伴有心血管损害的单基因遗传性疾病。尽管这类疾病的发病率相对较低，但在拥有13.3亿庞大人口的中国，单基因心血管疾病患者的绝对数量令人震惊。单基因心血管疾病起病早、症状严重、预后差，诊断和治疗的延误往往会产生严重后果。基因检测非常适合单基因心血管疾病的早期诊断，尤其是“症状前”诊断。在本文中，我们全面回顾了常见单基因心血管疾病的特点，总结了基因检测技术在临床实践中标准化应用的进展，描述了不同单基因心血管疾病基因检测的适用人群和条件，分析了这些遗传性疾病基因诊断的实用性，并为确定适合进行基因诊断的患者提供指导。总之，基因诊断为医生的疾病诊断方式提供了新的思路，并且非常适合指导临床决策和治疗，尤其是在心脏病学领域。
