Genetic testing in the epilepsies -developments and dilemmas

被引:58
作者
Poduri, Annapurna [1 ]
Sheidley, Beth Rosen [1 ]
Shostak, Sara [2 ]
Ottman, Ruth [3 ,4 ,5 ]
机构
[1] Boston Childrens Hosp, Dept Neurol, Epilepsy Genet Program, Boston, MA 02115 USA
[2] Brandeis Univ, Dept Sociol, Waltham, MA 02454 USA
[3] Columbia Univ, Gertrude H Sergievsky Ctr, New York, NY 10032 USA
[4] Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA
[5] Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY 10032 USA
关键词
INCIDENTAL FINDINGS; ACMG RECOMMENDATIONS; RISK PERCEPTION; STIGMA; EXOME; POPULATION; EDUCATION; CHILDREN; SEIZURES; PEOPLE;
D O I
10.1038/nrneurol.2014.60
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
In the past two decades, the number of genes recognized to have a role in the epilepsies has dramatically increased. The availability of testing for epilepsyrelated genes is potentially helpful for clarification of the diagnosis and prognosis, selection of optimal treatments, and provision of information for family planning. For some patients, identification of a specific genetic cause of their epilepsy has important personal value, even in the absence of clear clinical utility. The availability of genetic testing also raises new issues that have only begun to be considered. These issues include the growing importance of educating physicians about when and how to test patients, the need to ensure that affected individuals and their families can make informed choices about testing and receive support after receiving the results, and the question of what the positive and negative consequences of genetic testing will be for affected individuals, their family members, and society.
引用
收藏
页码:293 / 299
页数:7
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