G. H. Sergievsky Center and Department of Epidemiology, Columbia University, New York, NY, USA.
Epilepsia. 2010 Apr;51(4):655-70. doi: 10.1111/j.1528-1167.2009.02429.x. Epub 2010 Jan 19.
In this report, the International League Against Epilepsy (ILAE) Genetics Commission discusses essential issues to be considered with regard to clinical genetic testing in the epilepsies. Genetic research on the epilepsies has led to the identification of more than 20 genes with a major effect on susceptibility to idiopathic epilepsies. The most important potential clinical application of these discoveries is genetic testing: the use of genetic information, either to clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk because of a family history (predictive testing). Although genetic testing has many potential benefits, it also has potential harms, and assessment of these potential benefits and harms in particular situations is complex. Moreover, many treating clinicians are unfamiliar with the types of tests available, how to access them, how to decide whether they should be offered, and what measures should be used to maximize benefit and minimize harm to their patients. Because the field is moving rapidly, with new information emerging practically every day, we present a framework for considering the clinical utility of genetic testing that can be applied to many different syndromes and clinical contexts. Given the current state of knowledge, genetic testing has high clinical utility in few clinical contexts, but in some of these it carries implications for daily clinical practice.
在本报告中，国际抗癫痫联盟（ILAE）遗传学委员会讨论了与癫痫症临床基因检测相关的重要问题。癫痫症的遗传学研究已经确定了 20 多个对特发性癫痫易感性有重大影响的基因。这些发现最重要的潜在临床应用是基因检测：利用遗传信息，要么明确已经患有或疑似患有癫痫症的人的诊断（诊断性检测），要么预测有家族病史的人癫痫发作的风险（预测性检测）。尽管基因检测有许多潜在的益处，但它也有潜在的危害，对特定情况下这些潜在益处和危害的评估很复杂。此外，许多治疗临床医生不熟悉可用的测试类型、如何获得这些测试、是否应该提供这些测试，以及应采取哪些措施来最大限度地提高患者的获益并将危害最小化。由于该领域发展迅速，几乎每天都有新信息涌现，我们提出了一个考虑基因检测临床效用的框架，该框架可适用于许多不同的综合征和临床环境。鉴于目前的知识水平，基因检测在少数临床情况下具有较高的临床效用，但在其中一些情况下，它对日常临床实践有影响。
