Genetic testing in cardiovascular diseases

被引:25
作者
Arndt, Anne-Karin [1 ,2 ,3 ]
MacRae, Calum A. [2 ,3 ]
机构
[1] Univ Hosp Schleswig Holstein, Dept Congenital Heart Dis & Pediat Cardiol, Kiel, Germany
[2] Brigham & Womens Hosp, Dept Med, Div Cardiovasc, Boston, MA 02115 USA
[3] Harvard Univ, Sch Med, Boston, MA USA
关键词
cardiovascular disease; congenital heart disease; gene testing; genetics; genomics; ANEURYSMS-OSTEOARTHRITIS SYNDROME; THORACIC AORTIC-ANEURYSM; CONGENITAL HEART-DISEASE; SUDDEN CARDIAC DEATH; HYPERTROPHIC CARDIOMYOPATHY; CLINICAL EXOME; MUTATIONS; RISK; VARIANTS; GENOME;
D O I
10.1097/HCO.0000000000000055
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Purpose of reviewThe review is designed to outline the major developments in genetic testing in the cardiovascular arena in the past year or so. This is an exciting time in genetic testing as whole exome and whole genome approaches finally reach the clinic. These new approaches offer insight into disease causation in families in which this might previously have been inaccessible, and also bring a wide range of interpretative challenges.Recent findingsAmong the most significant recent findings has been the extent of physiologic rare coding variation in the human genome. New disease genes have been identified through whole exome studies in neonatal arrhythmia, congenital heart disease and coronary artery disease that were simply inaccessible with other techniques. This has not only shed light on the challenges of genetic testing at this scale, but has also sharply defined the limits of prior gene-panel focused testing. As novel therapies targeting specific genetic subsets of disease become available, genetic testing will become a part of routine clinical care.SummaryThe pace of change in sequencing technologies has begun to transform clinical medicine, and cardiovascular disease is no exception. The complexity of such studies emphasizes the importance of real-time communication between the genetics laboratory and genetically informed clinicians. New efforts in data and knowledge management will be central to the continued advancement of genetic testing.
引用
收藏
页码:235 / 240
页数:6
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