title: Sharing GJB2/GJB6 genetic test information with family members.
abstract: 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.
authors.affiliation: Department of Biology, California State University Northridge, Northridge, CA, USA.
authors.forename: Terri
authors.initials: T
authors.lastname: Blase
authors.forename: Ariadna
authors.initials: A
authors.lastname: Martinez
authors.forename: Wayne W
authors.initials: WW
authors.lastname: Grody
authors.forename: Lisa
authors.initials: L
authors.lastname: Schimmenti
authors.forename: Christina G S
authors.initials: CG
authors.lastname: Palmer
mesh_terms: D000223:Adaptation, Psychological; D002675:Child, Preschool; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D005190:Family / Q000523:psychology*; D005260:Female; D005817:Genetic Counseling / Q000523:psychology; D005820:Genetic Testing / Q000523:psychology*; D014644:Genetic Variation / Q000235:genetics; D007722:Health Knowledge, Attitudes, Practice; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000523:psychology; D006801:Humans; D007223:Infant; D008297:Male; D018907:Privacy; D012650:Self Disclosure
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26