Tester David J, Ackerman Michael J
Departments of Cardiovascular Diseases,Pediatrics and Molecular Pharmacology & Experimental Therapeutics,Divisions of Heart Rhythm Services and Pediatric Cardiology,Windland Smith Rice Sudden Death Genomics Laboratory,Mayo Clinic,Rochester,Minnesota,United States of America.
Cardiol Young. 2017 Jan;27(S1):S19-S24. doi: 10.1017/S1047951116002183.
The molecular millennium has bestowed clinicians and researchers with the essential tools to identify the underlying genetic substrates for thousands of genetic disorders, most of which are rare and follow Mendelian inheritance patterns. The genetic basis of potentially lethal and heritable cardiomyopathies and cardiac channelopathies has been identified and are now better understood. Genetic testing for several of these heritable conditions has made its transition from discovery through translation and have been commercially available clinical tests for over a decade. Now that clinical genetic testing is available more readily and delivers a disease-specific impact across the triad of medicine - diagnostic, prognostic, and therapeutic - it is important for the community of cardiologists to not only be familiar with the language of genomic medicine but to also be wiser users and even wiser interpreters of genetic testing so that wise decisions can be rendered for those patients and their families being evaluated with respect to the presence or absence of one of these potentially lethal yet highly treatable genetic disorders. The purpose of this review is to provide the reader with a foundational understanding of genetic testing in clinical cardiology. Here, we will present some benefits of genetic testing: indications for either post-mortem genetic testing for the major cardiomyopathies and channelopathies or pre-mortem genetic testing among the decedent's surviving relatives; the need for careful interpretation of genetic testing results; the importance of genetic counselling; and some points on the ethical and societal implications of genetic testing.
分子时代为临床医生和研究人员提供了重要工具，用以识别数千种遗传疾病的潜在遗传基础，其中大多数疾病较为罕见，遵循孟德尔遗传模式。潜在致命性和遗传性心肌病及心脏离子通道病的遗传基础已被确定，且如今有了更深入的了解。针对其中几种遗传性疾病的基因检测已从发现阶段过渡到转化阶段，并作为商业临床检测已有十多年时间。既然临床基因检测更容易获得，且在医学三元组（诊断、预后和治疗）中产生了疾病特异性影响，那么心脏病专家群体不仅要熟悉基因组医学语言，还要更明智地使用甚至更明智地解读基因检测结果，以便能为那些接受评估以确定是否存在这些潜在致命但高度可治疗的遗传疾病之一的患者及其家属做出明智决策。本综述的目的是让读者对临床心脏病学中的基因检测有一个基本的了解。在此，我们将介绍基因检测的一些益处：针对主要心肌病和离子通道病进行死后基因检测或在死者存活亲属中进行生前基因检测的指征；仔细解读基因检测结果的必要性；遗传咨询的重要性；以及基因检测在伦理和社会层面的一些影响要点。
