心脏基因检测的价值。
The value of cardiac genetic testing.
机构信息
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, Australia.
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
出版信息
Trends Cardiovasc Med. 2014 Aug;24(6):217-24. doi: 10.1016/j.tcm.2014.05.009. Epub 2014 Jun 3.
Genetic testing is an important and necessary aspect of the management of families with cardiac genetic conditions. Commercial genetic tests are available for most cardiac genetic diseases, and increasing uptake amongst patients has contributed to a vastly improved knowledge of the genetic basis of these diseases. The incredible advances in genetic technologies have translated to faster, more comprehensive, and inexpensive commercial genetic tests and has completely changed the landscape of commercial genetic testing in recent years. While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated. In almost all cases, the single greatest utility is for the predictive genetic testing of family members. This review will describe the value of cardiac genetic testing in the current climate of rapid genetic advancements.
遗传检测是管理心脏遗传疾病家庭的一个重要且必要的方面。大多数心脏遗传疾病都有商业遗传检测，患者的接受度增加也提高了对这些疾病遗传基础的认识。遗传技术的惊人进步已经转化为更快、更全面和更廉价的商业遗传检测，近年来彻底改变了商业遗传检测的格局。尽管存在巨大的挑战，主要涉及变异的解读，但遗传诊断的价值不应被低估。在几乎所有情况下，最大的用处是对家庭成员进行预测性遗传检测。本文将描述在快速遗传进步的当前背景下心脏遗传检测的价值。
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