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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：
10414046
负责人：
RUTH OTTMAN
金额：
$ 60.82万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2018
资助国家：
美国
起止时间：
2018-07-15 至 2024-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10414046
关键词：
Academic Medical Centers Adult Affect Anxiety Area Attitude Behavior Behavioral Belief Child Communities Complex Data Analyses Development Dimensions Discrimination Disease Education Enrollment Epilepsy Eugenics Family Fright Genes Genetic Genetic Research Genomic medicine Genomics Health Health behavior Individual Institutes Institution Interview Investigation Involuntary Sterilization Knowledge Longevity Marriage Medical Genetics Mental Depression Modeling Mutation Not Hispanic or Latino Outcome Participant Patients Persons Provider Quality of life Recommendation Recording of previous events Recurrence Reproduction Research Research Personnel Respondent Risk Role Sampling Seizures Self Management Self Medication Severities Severity of illness Syndrome Testing Time Translating Universities Well in self behavioral response clinical care design education planning essentialism exome sequencing expectation genetic counselor genetic testing illness perceptions improved nervous system disorder optimism precision medicine preference pressure programs psychiatric comorbidity psychologic psychosocial reproductive research study social stigma tertiary care theories trend

项目摘要

SUMMARY This study focuses on understanding the psychosocial impacts of genetic causal attribution in the epilepsies, a set of common neurologic disorders with significant psychosocial dimensions, including stigma, discrimination, reduced rates of marriage and reproduction, and reduced quality of life. Genetic research and clinical genetic testing in the epilepsies are advancing rapidly, and plans are underway to develop precision medicine approaches for clinical care. These developments reflect a strong emphasis on genetic causes of epilepsy, which is being communicated to patients in multiple ways. For some people with epilepsy, this emphasis will be welcome; for others, psychological and behavioral responses may be more complex. However, little is known about the psychosocial impact of genetic causal attribution on people with epilepsy. In previous research, we studied a unique set of >100 families containing multiple individuals with epilepsy, to assess their preferences for genetic testing, their beliefs about genetic causes, and the associations of these beliefs with psychosocial outcomes. We now propose to build on these studies to include a more diverse and representative sample of ~600 adults treated for epilepsy at our institution. These patients are being offered whole exome sequencing (WES) as part of a research program sponsored by Columbia's Institute for Genomic Medicine (IGM), and we will take advantage of this opportunity to study patients' decisions to participate or not participate in WES and the impact or receiving or not receiving genomic results. In Aim 1, we will assess the relations of genetic causal attributions to other illness perceptions (e.g., severity, persistence, treatability), and psychosocial (e.g., felt stigma, depression, anxiety) and behavioral (medication self-management) outcomes. Data analyses will test consistency with theoretical expectations under models of attribution theory, “genetic optimism,” and genetic essentialism. In Aim 2, we will investigate the ways in which receiving or not receiving genomic results may influence illness perceptions, psychological well-being, and health-related behavior, through in-depth qualitative interviews with patients who receive epilepsy-related findings, receive secondary findings, have WES but do not receive findings, and elect not to have WES. In Aim 3, we will develop mechanisms to translate our findings into improvements in education about the role of genetics in the epilepsies. The results will clarify the beliefs and attitudes about genetics that underlie any adverse impacts of geneticization in epilepsy and provide a framework for education programs designed to ameliorate them, in order to maximize the benefits of genomic medicine.

总结本研究的重点是了解遗传因果归因在儿童中的心理社会影响，癫痫是一组常见的神经系统疾病，具有重要的心理社会维度，包括耻辱，歧视、结婚率和生育率下降以及生活质量下降。遗传研究和癫痫的临床基因检测正在迅速发展，并且正在计划开发精确的医学方法用于临床护理。这些发展反映了对遗传原因的高度重视，癫痫，这是沟通，以多种方式向患者。对于一些癫痫患者来说，强调将是受欢迎的;对其他人来说，心理和行为反应可能更复杂。然而，很少有人知道遗传因果归因对癫痫患者的心理社会影响。在以前的研究中，我们研究了一组独特的>100个家庭，其中包含多个癫痫患者，评估他们对基因检测的偏好，他们对遗传原因的信念，以及这些因素之间的关联，信念与社会心理结果我们现在建议在这些研究的基础上，在我们机构接受癫痫治疗的约600名成人的代表性样本。这些病人被提供给全外显子组测序（WES）是由哥伦比亚基因组研究所赞助的研究计划的一部分。医学（IGM），我们将利用这个机会研究患者是否参与的决定参与WES和影响或接收或不接收基因组结果。在目标1中，我们将评估遗传因果归因与其他疾病感知的关系（例如，严重性、持续性、可治疗性），和心理社会（例如，感到耻辱，抑郁，焦虑）和行为（药物自我管理）结果。数据分析将检验与理论预期的一致性在归因理论、“遗传乐观主义”和遗传本质主义的模式下。在目标2中，我们将研究接受或不接受基因组结果可能会影响疾病的看法，心理幸福感和健康相关行为，通过对接受治疗的患者进行深入的定性访谈，癫痫相关发现，接受次要发现，患有WES但未接受发现，并选择不接受有WES。在目标3中，我们将建立机制，将我们的研究结果转化为教育的改进遗传学在癫痫中的作用研究结果将澄清人们对遗传学的信念和态度，这些信念和态度是遗传学对人类健康的任何不利影响的基础。遗传学在癫痫和提供一个框架，教育计划，旨在改善他们，以最大限度地发挥基因组医学的优势。