Although GJB2/GJB6 genetic testing for non-syndromic hearing loss is available, there is no information regarding sharing of test results with family members. A qualitative study was conducted to elucidate if, how, and why parents of a child with hearing loss share GJB2/GJB6 test results with relatives. Parents whose child had testing (n = 7 positive, n = 4 negative, n = 1 inconclusive results) participated in a semi-structured interview and responses were analyzed using qualitative methods. All participants shared the test result with at least one relative, but selective non-disclosure also was observed. Reasons for, and reactions to, sharing were diverse and differed as a function of test result. In comparing the results from this study to published literature, similarities and differences were identified with regards to disclosure of genetic test results for hearing loss versus other conditions. Differences suggest that hearing loss may have unique attributes that influence responses to genetic test information. Further research is needed to replicate these findings.
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Notes
We use the term “hearing loss” throughout this article. However, there are individual differences in preferred terminology to describe audiologic differences, including “deaf,” “hard of hearing,” and “hearing impaired.”
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ACKNOWLEDGMENTS
This research was supported by National Institute on Deafness and Other Communication Disorders (NIDCD) Grant DC005663 and California State University Northridge Thesis Support Program (2004–2005). The authors are grateful to the participating families who generously gave their time and support to allow performance of this study and to two anonymous reviewers who provided constructive criticism on an earlier version of this manuscript.
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Blase, T., Martinez, A., Grody, W.W. et al. Sharing GJB2/GJB6 Genetic Test Information with Family Members. J Genet Counsel 16, 313–324 (2007). https://doi.org/10.1007/s10897-006-9066-z
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DOI: https://doi.org/10.1007/s10897-006-9066-z