African Americans (AA) as a group distrust the medical establishment. The reasons have been discussed in editorials and opinion papers, and include unfortunate historical events like the Tuskegee syphilis study and the Sickle Cell screening program. One undesirable consequence of this mistrust is that AA as a group have been hesitant to participate in biomedical research studies. Consequently, many medical advances have not had a direct benefit for this population. One example of this is the genetic basis for hearing impairment (HI). Over 60 hearing-related genes have been identified in the past decade, and genetic testing is now available for one, GJB2. Studies among populations of Northern European extraction have shown that GJB2 mutations cause about 55% of nonsyndromic HI. No similar discovery has occurred for AA, as in limited studies GJB2 mutations have not been seen in AAs. Therefore, despite the many discoveries, there has been little advance in the genetics of HI in AA. A recent report suggested that mutations in a related gene, GJA1, may be more common in deaf/hard of hearing (D/HOH) AA, but this study was limited, as only 26 D/HOH AA were tested. In this proposal, we will examine the interrelated issues of AA's willingness to participate in research and the genetic basis of HI in AA. We will survey D/HOH AA and their families on their attitudes towards research and genetic testing for HI. Those subjects that complete the survey will then be offered free research-based genetic testing for several HI-related genes, GJB2, GJB6, and GJAI. Dr. Richard Smith at the University of Iowa will do the genetic testing. Offering the research based genetic testing will yield two valuable results. First, we will gain insight into why some AAs are unwilling to participate in research by comparing the results of those that agree to participate and those that decline. Second, by the results of the genetic testing, we will determine the frequency of mutations in GJB2, GJB6, and GJA1 among D/HOH AA. Subjects will be notified of their test results and offered free genetic counseling to have the results explained. From these results we will gain insight into why AA will/will not participate in research studies, and into their attitudes toward genetic testing for HI. Furthermore, these results will determine the role of mutations in GJB2, GJB6, and GJA1 in HI in AA. Together, these results will lead to more efficient genetic testing for HI in this population.
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