Psychosocial Impact of Genetics in Epilepsy

遗传学对癫痫的社会心理影响

• 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
• 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

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）：关于人类癫痫的遗传研究正在迅速发展，在罕见的Mendelian癫痫综合症中已经确定了20多个基因，以及在更常见的“遗传复杂”癫痫中鉴定基因的重大努力。几种癫痫综合征可以使用临床基因测试，其中已经鉴定出基因，并且患有癫痫患者的临床医生广泛认为基因检测对患者有帮助。但是，几乎没有关于遗传信息对癫痫患者及其家人的心理社会影响的经验数据。由于癫痫生活的重要社会心理维度，包括污名，歧视，婚姻和繁殖率降低以及与健康相关的生活质量降低，因此迫切需要在这一领域进行研究。这项研究将通过研究社会心理结局及其与遗传归因的关系和实际遗传测试的关系来解决这一差距，并在包含多个患有癫痫患者的家庭中结果。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，以评估既定的偏好，预期的基因检测的益处和危害，以及生活质量，与癫痫相关的污名及其预测因素的测量。其次，我们将向我们组最初描述的颞叶癫痫的一部分（21个家庭，包含195个个体）的个体（21个家庭，包含195个个体）提供临床基因测试，“常染色体显性的部分癫痫具有听觉特征”（ADPEAF）。以前，这些家庭中有一半在染色体上的LGI1基因中有突变。尽管研究参与者被告知了该基因发现的总（通过新闻通讯），但从未提供过个体结果。我们最近在机构的临床实验室改善法（CLIA）认证实验室中建立了LGI1的临床基因检测，我们将提供临床 对患有ADPEAF家族的个体进行基因测试，评估实际摄取及其预测因素，并前瞻性地遵循遗传信息对选择进行测试的个体的影响。我们还将对提供测试的个体的一部分进行定性访谈，在更深入的探索与接收癫痫中遗传信息有关的问题范围内。先前没有量化研究调查了遗传信息对癫痫病人及其家人的心理社会影响。因此，结果对于计划最大程度地利益并最大程度地减少这种疾病的损害的遗传服务应该非常有价值。