Sharing GJB2/GJB6 genetic test information with family members

Terri Blase, Ariadna Martinez, Wayne W. Grody, Lisa Schimmenti, Christina G.S. Palmer

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)313-324
Number of pages12
JournalJournal of Genetic Counseling
Volume16
Issue number3
DOIs
StatePublished - Jun 2007

Keywords

  • Connexin 26
  • Cx26
  • Deafness
  • Disclosure
  • Family
  • GJB2
  • Genetic counseling
  • Genetic testing
  • Hearing loss

ASJC Scopus subject areas

  • Genetics(clinical)

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