Psychosocial Impact of Genetics in Epilepsy

描述（由申请人提供）：人类癫痫的基因研究进展迅速，已经在罕见的孟德尔癫痫综合征中发现了20多个基因，并且正在努力识别更常见的“遗传复杂”癫痫的基因。临床基因检测可用于几种已经确定基因的癫痫综合征，治疗癫痫患者的临床医生普遍认为基因检测将对他们的患者有帮助。然而，几乎没有关于遗传信息对癫痫患者及其家庭成员的社会心理影响的经验数据。迫切需要在这一领域进行研究，因为癫痫患者具有重大的社会心理问题，包括耻辱、歧视、结婚率和生育率下降以及与健康有关的生活质量下降。本研究将通过研究包含多名癫痫患者的家庭的社会心理结果及其与遗传归因和实际基因检测结果的关系来解决这一差距。这项研究包括两个部分。首先，我们将对来自115个家庭的1053名个体进行调查，以评估基因检测的陈述偏好和预期的利弊，以及生活质量、癫痫相关污名及其预测因素。其次，我们将为患有颞叶癫痫的家族子集（21个家族，包含195个个体）的个体提供临床基因检测，我们的团队最初描述为“常染色体显性部分癫痫伴听觉特征”（ADPEAF）。这些家庭中有一半以前被发现在10号染色体上的LGI1基因上有突变。尽管研究参与者已被告知这一基因发现的总体情况（通过时事通讯），但他们从未被提供过个人结果。我们最近在我们机构的临床实验室改进法案（CLIA）认证的实验室建立了LGI1的临床基因检测，我们将我们将提供临床

DESCRIPTION (provided by applicant): Genetic research on human epilepsy is advancing rapidly, with more than 20 genes already identified in rare Mendelian epilepsy syndromes, and major efforts underway to identify genes in the more common "genetically complex" epilepsies. Clinical genetic testing is available for several epilepsy syndromes in which genes have been identified, and clinicians who treat patients with epilepsy widely believe that genetic testing wil be helpful for their patients. However, almost no empirical data are available on the psychosocial impact of genetic information on people with epilepsy and their family members. Research in this area is urgently needed because of the significant psychosocial dimensions of living with epilepsy, which include stigma, discrimination, reduced rates of marriage and reproduction, and reduced health-related quality of life. This study will address this gap by researching psychosocial outcomes and their relations with genetic attributions and actual genetic test results in families containing multiple individuals with epilepsy. The study involves two parts. First, we will carry out a survey of 1053 individuals from 115 families, to evaluate stated preferences and anticipated benefits and harms of genetic testing, and measures of quality of life, epilepsy-related stigma, and their predictors. Second, we will offer clinical geneic testing to individuals in a subset of families (21 families, containing 195 individuals) with a for of temporal lobe epilepsy initially described by our group, "autosomal dominant partial epilepsy with auditory features" (ADPEAF). Half of these families were previously found to have mutations in the LGI1 gene on chromosome 10. Although study participants have been informed about this gene discovery in aggregate (through a newsletter), they have never been offered individual results. We recently established a clinical genetic test for LGI1 in our institution's Clinical Laboratory Improvement Act (CLIA)-certified laboratory, and we will we will offer clinical genetic testing to individuals in families with ADPEAF, evaluate actual uptake and its predictors, and follow prospectively the impact of genetic information on individuals who choose to be tested. We will also carry out qualitative interviews on a subset of individuals offered testing, t explore in greater depth the range of issues related to receiving genetic information in epilepsy. No previous quantitative study has investigated the psychosocial impact of genetic information on individuals with epilepsy and their family members; hence the results should be extremely valuable for planning of genetic services that maximize benefit and minimize harm in this disorder.