Societal Impact of Advances in Genetic Deafness

遗传性耳聋进展的社会影响

• 批准号: 6679120
• 负责人: ARTI PANDYA
• 金额: $ 28.26万
• 依托单位: VIRGINIA COMMONWEALTH UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-09-01 至 2007-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6679120
• 关键词: attitude; behavioral /social science research tag; biotechnology; clinical research; data collection methodology /evaluation; deafness; early diagnosis; ethics; family structure /dynamics; focus groups; gene expression; gene mutation; genetic counseling; genetic disorder; genetic mapping; genetic screening; health care policy; health education; human subject; information dissemination; interview; marriage counseling; patient care management; population survey; questionnaires; social psychology

DESCRIPTION (provided by applicant): Progress in understanding the genetic basis of hearing loss is occurring at a rapid pace, with more than 100 genes for deafness already mapped and cloned. These advances in genetic deafness are providing us with information on the basic architecture and functioning of this intricate organ of hearing. It is also leading to the development of molecular diagnostic tests which are used in clinical practice for the evaluation of individuals with hearing loss of unknown etiology. In parallel, advances in technology for audiologic evaluation and the recognition that early identification of hearing loss and initiation of language training can influence the linguistic potential have led to the nationwide implementation of the Early Hearing Detection and Intervention (EHDI) program. However, the pace of communicating these revolutionary advances and their relevance to the consumer have lagged behind. This gap in knowledge of the consumer, and the existence of a Deaf culture, pose unique social and ethical issues for the Deaf and hearing communities. One of the key goals of the ELSI program is to identify, analyze and address the ethical and social implications arising as a result of advances due to the Human Genome Project. Thus we propose to seek and understand the attitudes and concerns of deaf adults and hearing parents of deaf children towards several issues related to genetic testing and technological advances in management of the deaf. We will achieve this by conducting focus group interviews, and using this qualitative information to revise and expand the survey instrument, followed by a nationwide survey of the two groups to seek their knowledge, attitudes and concerns. We will also assess the impact of genetic testing and counseling by measuring its influence on selection of a marriage partner. In order to do this we will test the marriage pattern in 100 deaf probands with Cx26 mutations married before and after the discovery of Cx deafness.

描述(由申请人提供)：在理解听力损失的遗传基础方面正在迅速取得进展，已经有100多个与耳聋有关的基因被定位和克隆。遗传性耳聋的这些进展为我们提供了关于这个复杂的听力器官的基本结构和功能的信息。这也导致了分子诊断测试的发展，这些测试在临床实践中用于评估原因不明的听力损失患者。与此同时，听力学评估技术的进步，以及人们认识到及早发现听力损失和开始语言训练可以影响语言潜能，导致了全国范围内实施早期听力检测和干预(EHDI)计划。然而，传达这些革命性进展的步伐及其与消费者的相关性一直落后。消费者知识的这种差距，以及聋人文化的存在，给聋人和听力社区带来了独特的社会和伦理问题。ELSI计划的主要目标之一是确定、分析和解决人类基因组计划所带来的伦理和社会影响。因此，我们建议寻求并了解聋人成人和聋人儿童的听力父母对与聋人管理中的基因测试和技术进步有关的几个问题的态度和关注。我们将通过开展焦点小组访谈来实现这一点，并利用这些定性信息来修订和扩大调查工具，然后在全国范围内对这两个群体进行调查，以了解他们的知识、态度和关切。我们还将通过衡量基因测试和咨询对选择婚姻伴侣的影响来评估其影响。为了做到这一点，我们将测试100名Cx26突变的聋人先证者在发现Cx耳聋之前和之后结婚的婚姻模式。