Genetic testing in neurology

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• 作者：Henrietta Lefroy ; Victoria Harrison ; Andrea H. Né ; meth
• 关键词：Carrier testing ; confidentiality ; consent ; diagnostic testing ; genetic testing ; neurogenetics ; neurology ; next-generation sequencing ; pre-symptomatic testing
• 刊名：Medicine
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：44
• 期：8
• 页码：508-512
• 全文大小：198 K

文摘

Genetic testing is now an integral part of most areas of medicine, including neurological disorders. This article provides clinicians with guidance on the issues and pathways for genetic testing, including ethical dilemmas that can arise in the care of families with a confirmed or suspected genetic condition. As genetics moves more into the mainstream, it is increasingly important for non-geneticists to be aware of these issues, the potential pitfalls and when to seek specialist advice. We explain patterns of inheritance, their complexities and the important distinctions between pre-symptomatic, diagnostic and carrier testing. We explain the ethical framework for testing, including confidentiality and consent, and testing in children and in at-risk relatives. We outline core technologies for genetic testing and the importance of close liaison with clinical genetics services and medical genetics laboratories to remain updated with the type, availability and appropriateness of any genetic test. We also summarise new genetic sequencing technologies that are transforming clinical practice.