Psychosocial Impact of Genetics in Epilepsy

遗传学对癫痫的社会心理影响

基本信息

批准号：
8438389
负责人：
RUTH OTTMAN
金额：
$ 55.68万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2012
资助国家：
美国
起止时间：
2012-04-01 至 2016-03-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8438389
关键词：
Address Affect Age Anxiety Area Autosomal Dominant Partial Epilepsy with Auditory Features Behavior Therapy Behavioral Belief Chromosomes, Human, Pair 10 Clinical Complex Data Dimensions Discrimination Disease Epilepsy Ethnic Origin Etiology Family Family member General Population Genes Genetic Genetic Research Genetic Risk Genetic Services Genetic screening method Human Individual Institution Insurance Insurance Coverage Interview Investigation Knowledge LGI1 gene Laboratories Life Life Experience Marriage Measures Mental Depression Monitor Mutation Newsletter Outcome Participant Patients Penetrance Perception Personal Satisfaction Privacy Quality of life Recording of previous events Reproduction Reproductive History Research Sampling Seizures Severities Sex Education Surveys Syndrome Temporal Lobe Epilepsy Test Result Testing follow-up gene discovery health related quality of life help-seeking behavior improved income insurance interest member preference psychologic psychosocial reproductive risk perception self esteem social stigma treatment adherence uptake

项目摘要

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.

描述（由申请人提供）：人类癫痫的基因研究正在迅速进展，已经在罕见的孟德尔癫痫综合征中鉴定了 20 多个基因，并且正在努力鉴定更常见的“遗传复杂”癫痫中的基因。临床基因检测可用于几种已鉴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对其患者有帮助。然而，几乎没有关于遗传信息对癫痫患者及其家庭成员的心理社会影响的经验数据。由于癫痫患者会产生重大的心理社会影响，包括耻辱、歧视、结婚率和生育率下降以及与健康相关的生活质量下降，因此迫切需要该领域的研究。本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。该研究涉及两个部分。首先，我们将对来自 115 个家庭的 1053 名个人进行调查，以评估基因检测的陈述偏好和预期益处和危害，以及生活质量、癫痫相关耻辱及其预测因素的衡量标准。其次，我们将为部分家族（21 个家族，包含 195 名个体）中患有颞叶癫痫的个体提供临床基因检测，该家族最初由我们小组描述为“具有听觉特征的常染色体显性部分性癫痫”(ADPEAF)。这些家庭中有一半之前被发现在 10 号染色体上的 LGI1 基因中存在突变。尽管研究参与者已被整体告知（通过时事通讯）这一基因的发现，但他们从未获得过单独的结果。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 ADPEAF 家族中的个体进行基因检测，评估实际吸收及其预测因素，并前瞻性地跟踪遗传信息对选择接受检测的个体的影响。我们还将对一部分接受测试的个体进行定性访谈，更深入地探讨与接收癫痫遗传信息相关的一系列问题。此前还没有定量研究调查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非常有价值，从而最大限度地提高这种疾病的利益并尽量减少其危害。