Outcomes of Cx26 Testing in Deaf/Hard of Hearing Adults

描述(由申请人提供)：耳聋的基因测试现已成为现实，连接蛋白26(Cx26，GJB2)被确认为高达50%的非综合征性感音神经性耳聋的原因。由于耳聋被许多人视为一种个人特征，而不是一种医学疾病，因此需要对遗传信息对聋人/重听人和聋人社区成员的影响进行实证研究，以充分了解耳聋基因测试的伦理、社会和临床后果。这个项目将通过聋人身份的视角来研究遗传信息、聋人个人和聋人社区之间的动态，从而解决这些问题。聋人身份是指聋人个人对聋人的自我认同，这会影响对聋人社区的认同。我们提出了一项为期4年的前瞻性、纵向、多机构研究，对来自大洛杉矶地区的500名18岁的聋人和智障人进行了文化和祖先多样性的研究。这个居住着75万名聋人的地理区域提供了独特的机会，通过为聋人提供服务的组织，如加州州立大学北岭分校的国家聋人中心、大洛杉矶聋人机构、教会团体、娱乐团体和支持团体，接触不同文化背景的聋人成年人。参与者将接受遗传咨询和Cx26测试，并将在测试前咨询之前、测试前咨询后立即、测试结果公布后1个月和6个月完成评估聋人身份、态度和信念、动机、知识、行为和心理社会结果的问卷。那些下降的测试/结果将完成1个月和6个月的跟踪调查问卷，以便对下降的和不下降的进行比较。在线多媒体格式将使问卷项目能够以美国手语(使用视频)和英语/西班牙语(使用文本)呈现。这项研究将提供关于基因检测对聋人和聋人社区的影响的信息，它将首次建立一个经验基础，以便为今后关于向聋人和聋人提供遗传咨询和检测的讨论奠定基础。后者对于开发遗传咨询和检测模式至关重要，这些模式包含了对客户的预期指导。这项研究是为了响应NHGRI评估基因组学对个人和社区的影响的优先事项，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意见和专业知识。通过这种方式，我们确保了该项目以一种文化敏感的方式进行，确保它提供了对此次基因测试目标个人的更广泛的洞察，并确保结果与聋人/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.