Psychosocial Impact of Genetics in Epilepsy

遗传学对癫痫的社会心理影响

• 批准号: 8276345
• 负责人: RUTH OTTMAN
• 金额: $ 61.88万
• 依托单位: COLUMBIA UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 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/8276345
• 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; Stigmata; 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

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. PUBLIC HEALTH RELEVANCE: This investigation focuses on the psychosocial impact of genetic information on individuals 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. The ways in which genetic information might alter the experience of living with epilepsy are unclear.

描述（申请人提供）：人类癫痫的遗传学研究进展迅速，在罕见的孟德尔癫痫综合征中已经鉴定出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癫痫综合征，其中基因已被确定，治疗癫痫患者的临床医生普遍认为基因检测对他们的患者有帮助。然而，几乎没有经验数据可用于遗传信息对癫痫患者及其家庭成员的心理社会影响。迫切需要在这一领域进行研究，因为癫痫患者的生活具有重要的心理社会层面，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。本研究将通过研究心理社会结果及其与遗传归因和包含多个癫痫患者的家庭中实际基因检测结果的关系来解决这一差距。本研究包括两个部分。首先，我们将对来自115个家庭的1053名个体进行调查，以评估基因检测的声明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措施。第二，我们将提供临床基因测试的个人在一个家庭的子集（21个家庭，包含195个人）与颞叶癫痫的一个由我们的小组最初描述，“常染色体显性部分癫痫与听觉功能”（ADPEAF）。这些家族中有一半先前被发现在10号染色体上的LGI1基因中有突变。虽然研究参与者已经被告知这个基因的发现（通过通讯），他们从来没有提供个人的结果。我们最近在我们机构的临床实验室改进法案（CLIA）认证的实验室建立了LGI1的临床基因检测，我们将提供临床 对ADPEAF家族中的个体进行基因检测，评估实际摄入量及其预测因素，并前瞻性地跟踪遗传信息对选择接受检测的个体的影响。我们还将对提供检测的一部分个体进行定性访谈，以更深入地探讨与癫痫遗传信息接收相关的问题。没有以前的定量研究调查的心理社会的影响，遗传信息对癫痫患者及其家庭成员，因此，结果应该是非常有价值的遗传服务，最大限度地提高效益和减少这种疾病的伤害规划。 公共卫生相关性：这项调查的重点是遗传信息对癫痫患者及其家庭成员的心理社会影响。迫切需要在这一领域进行研究，因为癫痫患者的生活具有重要的心理社会层面，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。遗传信息可能改变人类经验的方式 癫痫病患者的生活状况尚不清楚。