Psychosocial Impact of Genetics in Epilepsy

描述(申请人提供)：人类癫痫的基因研究进展迅速，已在罕见的孟德尔癫痫综合征中发现了20多个基因，并正在进行重大努力，以确定更常见的“基因复杂”癫痫的基因。临床基因检测可用于几种已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所帮助。然而，几乎没有关于遗传信息对癫痫患者及其家庭成员的心理社会影响的经验数据。迫切需要在这一领域进行研究，因为癫痫患者的心理社会层面很大，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。这项研究将通过研究包含多个癫痫患者的家庭的心理社会结果及其与遗传归因和实际基因测试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115个家庭的1053个人进行调查，以评估基因检测的既定偏好和预期的好处和危害，以及生活质量的衡量标准、癫痫相关的耻辱及其预测因素。其次，我们将为一个家族(21个家族，包含195个个体)的个体提供临床基因检测，这些家族中的个体最初被我们的小组描述为“具有听觉特征的常染色体显性遗传性部分癫痫”(ADPEAF)。这些家庭中有一半之前被发现在10号染色体上有LGI1基因突变。尽管研究参与者已经被告知了这一基因发现的总体情况(通过时事通讯)，但他们从未被提供单独的结果。我们最近在我们机构的临床实验室改进法案(CLIA)认证的实验室中建立了LGI1的临床基因测试，我们将提供临床 对患有ADPEAF的家庭中的个体进行基因检测，评估实际摄取率及其预测因素，并前瞻性地跟踪遗传信息对选择接受检测的个体的影响。我们还将对提供测试的部分个人进行定性访谈，以更深入地探讨与接受癫痫遗传信息有关的一系列问题。以前没有一项定量研究调查了遗传信息对癫痫患者及其家庭成员的心理社会影响；因此，这些结果对于规划遗传服务，使其在这种疾病中最大限度地受益和最大限度地减少损害，应该是非常有价值的。

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.