Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Curr Opin Cardiol. 2010 May;25(3):243-8. doi: 10.1097/HCO.0b013e3283374d69.
To review the current state and different aspects, including the yield, of genetic counseling and genetic testing in inherited heart disease.
The number of counselees is growing rapidly all over the world, and the first studies about patients' perspectives and follow-up have been published. Progress has been made by gene-specific studies on long QT syndrome to judge the relevance of detected mutations in the specific domains.
With the increasing identification of associated genes and available techniques in molecular testing of the inherited heart diseases, the diagnostic yield of mutation analysis is growing rapidly. To determine the relevance of all these mutations, ongoing research is needed. Furthermore, the process of genetic counseling can be optimized and extended with cascade screening, which leads to identifying patients at risk and timely treatment.
回顾遗传性心脏病领域遗传咨询和基因检测的现状和不同方面，包括其检出率。
全世界接受咨询的人数迅速增加，并且已经发表了首批关于患者观点和随访的研究报告。长 QT 综合征的基因特异性研究在判断特定区域检测到的突变相关性方面取得了进展。
随着遗传性心脏病相关基因的不断确定和分子检测技术的应用，基因突变分析的诊断检出率迅速提高。为了确定所有这些突变的相关性，需要开展进一步的研究。此外，通过级联筛查可以优化和扩展遗传咨询过程，从而发现有风险的患者并及时进行治疗。
