Outcomes of Cx26 Testing in Deaf/Hard of Hearing Adults

失聪/听力困难成人的 Cx26 测试结果

• 批准号: 7149435
• 负责人: Christina Germaine Palmer
• 金额: $ 64万
• 依托单位: UNIVERSITY OF CALIFORNIA LOS ANGELES
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-09-01 至 2009-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7149435
• 关键词: attitude; clinical research; community; deafness; genetics; hearing; identity; motivation

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.

描述（由申请人提供）：对耳聋的基因测试现在是现实，鉴定连接蛋白26（CX26，GJB2）是高达50％的非综合性感觉性耳聋的原因。由于许多人认为耳聋被视为一种个人特征，而不是疾病，因此需要对遗传信息对聋人/难度（HOH）个人和聋人社区的成员的影响进行经验检查，以充分了解遗传测试的态度，社会和临床后果。该项目将通过聋人身份的视角研究遗传信息，聋人/HOH个体和聋人社区之间的动态来解决这些问题 - 聋/HOH个人对耳聋的自我认同，从而影响聋人社区的认同。我们提出了一项为期4年的，前瞻性的，纵向的多机构研究，该研究在从大洛杉矶地区绘制的500名聋/HOH个体的文化和祖先多样化样本中研究了这种动态。这个地理区域（> 750,000个聋人/HOH个人）提供了独特的机会，可以通过为聋哑人/HOH个人的组织（例如加利福尼亚州立大学 - 大学 - 大学 - 大学 - 大学 - 大学 - 大学 - 大学 - 大学 - 大学 - 大学 - 大学 - 大学 - 洛杉矶国家 - 大洛杉矶机构，教会团体，教会团体，教会，娱乐小组和支持小组）提供聋人/HOH个人的聋人/HOH成年人样本。参与者将获得遗传咨询和CX26测试，并将完成评估聋人身份，态度和信念，动机，知识，行为和心理社会成果的聋人身份，动机，知识，行为和心理社会成果，并在预测试咨询之前，在预测咨询之后，在测试结果披露后1个月和6个月。那些测试/结果下降的人将完成1个月和6个月的随访问卷，从而可以比较拒绝者和非处方者。在线多媒体格式将使问卷项目在ASL（使用视频）和英语/西班牙语（使用文本）中提供。这项研究将提供有关基因测试对聋/HOH个体和聋人社区的影响的信息，这将是第一个建立经验基础的基础，以此来基于关于提供遗传咨询和对聋人/HOH成年人提供遗传咨询和测试的讨论。 后者对于开发遗传咨询和测试模型至关重要，该模型纳入了为客户提供预期指导。这项研究对评估基因组学对个人和社区的影响的NHGRI优先级有反应，该项目的设计和目标源于基于社区的研究计划，涉及聋人社区成员的个人意见和专业知识。通过这种方式，我们确保了该项目以文化敏感的方式进行，它可以更广泛地了解该基因检测中针对的个体的观点，并且结果与聋哑人/HOH个人，聋人社区和遗传学服务有关。