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.
