Societal Impact of Advances in Genetic Deafness

描述（由申请人提供）：听力损失的遗传基础研究进展迅速，已经绘制和克隆了100多个耳聋基因。遗传性耳聋的这些进展为我们提供了关于这个复杂听觉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，这些测试用于临床实践，用于评估病因不明的听力损失个体。 与此同时，听力学评估技术的进步以及对听力损失的早期识别和语言训练的开始可以影响语言潜力的认识，导致了早期听力检测和干预（EHDI）计划在全国范围内的实施。然而，这些革命性进步的传播速度及其与消费者的相关性已经落后。消费者知识的这种差距，以及聋人文化的存在，为聋人和听力社区带来了独特的社会和道德问题。 ELSI计划的主要目标之一是识别，分析和解决由于人类基因组计划的进步而产生的伦理和社会影响。 因此，我们建议寻求和理解的态度和关注的聋人成年人和聋哑儿童的听力父母对几个问题有关的基因检测和技术进步的管理聋人。 为此，我们将进行焦点小组访谈，并利用这一定性信息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。我们还将通过测量其对婚姻伴侣选择的影响来评估基因检测和咨询的影响。 为了做到这一点，我们将测试100个耳聋先证者的婚姻模式与Cx 26突变结婚之前和之后发现Cx耳聋。

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.