Schilling Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Lübeck, Germany.
Semin Neurol. 2011 Nov;31(5):542-52. doi: 10.1055/s-0031-1299792. Epub 2012 Jan 21.
New technologies and more research in genetics have revealed an increasing amount of genetic data and identified new diseases. In parallel to the wider availability of genetic testing, efforts have been made to regulate the use of genetic technology and genetic information. The swift pace of developments, not surprisingly, may cause uncertainty among those confronted with genetics. The authors review the current state of genetic testing with a focus on movement disorders. They introduce terminology (inheritance patterns; penetrance; clinical and genetic heterogeneity and types of testing, including influences of direct-to-consumer testing) and discuss general aspects of genetics, including indication for testing, familial implications as well as social, ethical, and in particular legal implications (discrimination acts, insurance aspects, protection of data of deceased, etc.). They also cover recent developments with regard to new molecular techniques, economic issues, and the difficulties of data interpretation.
新技术和更多的遗传学研究揭示了越来越多的遗传数据，并确定了新的疾病。随着基因检测的广泛应用，人们也努力规范基因技术和遗传信息的使用。发展速度之快，毫不奇怪，可能会让那些面对遗传学的人感到不确定。作者回顾了当前的基因检测状态，重点是运动障碍。他们介绍了术语（遗传模式；外显率；临床和遗传异质性以及测试类型，包括直接面向消费者测试的影响），并讨论了遗传学的一般方面，包括测试的指征、家族影响以及社会、伦理，特别是法律影响（歧视法案、保险方面、已故者数据的保护等）。他们还涉及到新的分子技术、经济问题以及数据解释的困难等最新进展。
