Outcomes of Cx26 Testing in Deaf/Hard of Hearing Adults

描述（由申请人提供）：随着连接蛋白26 （Cx26, GJB2）被鉴定为高达50%的非综合征感音神经性耳聋的原因，耳聋的基因检测现在已经成为现实。由于许多人将耳聋视为一种个人特征，而不是一种医学状况，因此需要对遗传信息对聋人/听力困难（hoh）个人和聋人社区成员的影响进行经验检验，以充分了解耳聋基因检测的伦理、社会和临床后果。本项目将通过聋人身份（一个聋人/聋人对耳聋的自我认同，影响对聋人社区的认同）的视角，研究遗传信息、聋人/聋人个体和聋人社区之间的动态关系，来解决这些问题。我们提出了一项为期4年、前瞻性、纵向、多机构的研究，在来自大洛杉矶地区的500名年龄在18岁左右的聋人/聋人的文化和祖先多样性样本中检验这种动态。这个地区有75万聋哑人居住，通过为聋哑人服务的组织，如加州州立大学北岭分校的国家聋哑人中心、大洛杉矶聋哑人机构、教会团体、娱乐团体和支持团体，为聋哑人/聋哑人提供了独特的机会，让不同文化的聋哑人/聋哑人参与其中。参与者将接受遗传咨询和Cx26检测，并在测试前咨询之前、测试前咨询之后、测试结果公布后1个月和6个月完成失聪者身份、态度和信念、动机、知识、行为和心理社会结果的问卷调查。那些下降的测试/结果将完成1个月和6个月的随访问卷，以便在下降和非下降之间进行比较。在线多媒体格式将使问卷项目以美国手语（使用视频）和英语/西班牙语（使用文本）呈现。本研究将提供有关基因检测对聋人/聋人个体和聋人社区影响的信息，并将首次为今后关于向聋人/聋人成人提供遗传咨询和检测的讨论奠定经验基础。后者对于开发遗传咨询和测试模型至关重要，其中包括对客户的预期指导。这项研究响应了NHGRI优先评估基因组学对个人和社区的影响，该项目的设计和目标源于基于社区的研究规划，涉及聋人社区成员的个人意见和专业知识。通过这种方式，我们确保了该项目是以一种文化敏感的方式进行的，它提供了对基因检测目标个体的更广泛的见解，并且结果与聋人/聋人个人、聋人社区和遗传学服务相关。

DESCRIPTION (provided by applicant): Genetic testing for deafness is now a reality with the identification of Connexin 26 (Cx26, GJB2) as a cause of up to 50% of nonsyndromic sensorineural deafness. Because deafness is viewed as a personal trait, rather than a medical condition, by many individuals, the impact of genetic information on deaf/hard of hearing (hoh) individuals and members of the Deaf community needs to be empirically examined to fully understand the ethical, social, and clinical ramifications of genetic testing for deafness. This project will address these issues by examining the dynamics among genetic information, deaf/hoh individuals, and the Deaf community through the lens of deaf identity - a deaf/hoh individual's self-identification with deafness, which influences identification with the Deaf community. We propose a 4-year, prospective, longitudinal, multi-institutional study which examines this dynamic in a culturally and ancestrally diverse sample of 500 deaf/hoh individuals who are > 18 years old, drawing from greater Los Angeles area. This geographic area, in which >750,000 deaf/hoh individuals reside, offers the unique opportunity to engage a culturally diverse sample of deaf/hoh adults through organizations serving deaf/hoh individuals such as the National Center on Deafness at California State University-Northridge, the Greater Los Angeles Agency on Deafness, church groups, recreational groups, and support groups. Participants will receive genetic counseling and Cx26 testing, and will complete questionnaires assessing deaf identity, attitudes and beliefs, motivations, knowledge, behaviors, and psychosocial outcomes prior to pre-test counseling, immediately following pretest counseling, 1 month- and 6 months following test result disclosure. Those declining testing/results will complete 1 month- and 6 months follow-up questionnaires, enabling comparison between decliners and nondecliners. An online multi-media format will enable questionnaire items to be presented in ASL (using video) and English/Spanish (using text). This research will provide information on the impact of genetic testing on deaf/hoh individuals and the Deaf community, and it will be the first to develop an empirical foundation from which to base future discussions about the provision of genetic counseling and testing to deaf/hoh adults. The latter is critical for developing models of genetic counseling and testing which incorporate anticipatory guidance for clients. This research is responsive to an NHGRI priority for assessing the impact of genomics on individuals and communities, and the design and aims of this project stem from community-based research planning, involving the opinions and expertise of individuals who are members of the Deaf community. In this way, we have ensured that the project is conducted in a culturally sensitive manner, that it provides a broader insight into the perspectives of the individuals targeted in this genetic testing, and that the results are relevant to deaf/hoh individuals, Deaf communities, and genetics services.