Top

Published in:

01-06-2007 | Original Research

Sharing GJB2/GJB6 Genetic Test Information with Family Members

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

Published in: Journal of Genetic Counseling | Issue 3/2007

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.

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.”

Abe, S., Usami, S., Shinkawa, H., Kelley, P. M., & Kimberling, W. J. (2000). Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet, 37, 41–43.PubMedCrossRef

Anderlik, M. R., & Lisko, E. A. (2000). Medicolegal and ethical issues in genetic cancer syndromes. Semin Surg Oncol, 18, 339–346.PubMedCrossRef

Arnos, K. S., Israel, J., & Cunningham, M. (1991). Genetic counseling of the deaf. Medical and cultural considerations. Ann NY Acad Sci, 630, 212–222.PubMedCrossRef

Azaiez, H., Chamberlin, G. P., Fischer, S. M., Welp, C. L., Prasad, S., Taggart, R. R., et al. (2004). GJB2: The spectrum of deafness-causing allele variants and their phenotype. Human Mutation, 24, 305–311.PubMedCrossRef

Billings, K. R., & Kenna, M. A. (1999). Causes of pediatric sensorineural hearing loss: Yesterday and today. Arch Otolaryngol, 125, 517–521.

Claes, E., Evers-Kiebooms, G., Boogaerts, A., Decruyenaere, M., Denayer, L., & Legius, E. (2003). Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. Am J Med Genet A, 116, 11–19.PubMedCrossRef

Cryns, K., Orzan, E., Murgia, A., Huygen, P. L. M., Moreno, F., del Castillo, I., et al. (2004). A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet, 41, 147–154.PubMedCrossRef

del Castillo, I., Villamar, M., Moreno-Pelayo, M. A., del Castillo, F. J., Alvarez, A., Telleria, D., et al. (2002). A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. New Engl J Med, 346, 243–249.PubMedCrossRef

Denoyelle, F., Lina-Granade, G., Plauchu, H., Bruzzone, R., Chaib, H., Levi-Acobas, F., et al. (1998). Connexin 26 gene linked to a dominant deafness. Nature, 393, 319–320.PubMedCrossRef

Denoyelle, F., Marlin, S., Weil, D., Moatti, L., Chauvin, P., Garabedian, E. N., et al. (1999). Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling. Lancet, 353, 1298–1303.PubMedCrossRef

Estivill, X., Fortina, P., Surrey, S., Rabionet, R., Melchionda, S., D’Agruma, L., et al. (1998). Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet, 351, 394–398.PubMedCrossRef

Flick, U. (1998). An introduction to qualitative research. London: Sage.

Gorlin, R. J., Toriello, H. V., & Cohen Jr., M. M. (1995). Hereditary hearing loss and its syndromes. New York: Oxford University Press, Inc.

Green, G. E., Scott, D. A., McDonald, J. M., Woodworth, G. G., Sheffield, V. C., & Smith, R. J. (1999). Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA, 281, 2211–2216.PubMedCrossRef

Henneman, L., Kooij, L., Bouman, K., & ten Kate, L. P. (2002). Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families. Am J Med Genet, 110, 324–331.PubMedCrossRef

Hone, S. W., & Smith, R. J. H. (2002). Medical evaluation of pediatric hearing loss: Laboratory, radiographic, and genetic testing. Otolaryng Clin N Am, 35, 751–764.CrossRef

Jacobs, L. M. (1989). A deaf adult speaks out. Washington, D.C.: Gallaudet University.

Kenna, M. A., Wu, B. L., Cotanche, D. A., Korf, B. R., & Rehm, H. L. (2001). Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head & Neck Surgery, 127, 1037–1042.

Kenneson, A., Van Naarden Braun, K., & Boyle, C. (2002). GJB2 (connexin 26) variants and non-syndromic sensorineural hearing loss: A huge review. Genet Med, 4, 258–274.PubMed

Marlin, S., Garabedian, E. N., Roger, G., Moatti, L., Matha, N., Lewin, P., et al. (2001). Connexin 26 gene mutations in congenitally deaf children: Pitfalls for genetic counseling. Arch Otolaryngol Head Neck Surg, 127, 927–933.PubMed

McGivern, B., Everett, J., Yager, G. G., Baumiller, R. C., Hafertepen, A., & Saal, H. M. (2004). Family communication about positive BRCA1 and BRCA2 genetic test results. Genet Med, 6, 503–509.PubMed

Mesters, I., Ausems, M., Eichhorn, S., & Vasen, H. (2005). Informing one’s family about genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): A retrospective exploratory study. Fam Cancer, 4, 163–167.PubMedCrossRef

Morell, R. J., Kim, H. J., Hood, L. J., Goforth, L., Friderici, K., Fisher, R., et al. (1998). Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med, 339, 1500–1505.PubMedCrossRef

Morton, N. E. (1991). Genetic epidemiology of hearing impairment. Ann NY Acad Sci, 630, 16–31.PubMedCrossRef

Nance, W. E. (2003). The genetics of deafness. Ment Retard Dev Disabil Res Rev, 9, 109–119.PubMedCrossRef

Ormond, K. E., Mills, P. L., Lester, L. A., & Ross, L. F. (2003). Effect of family history on disclosure patterns of cystic fibrosis carrier status. Am J Med Genet, 119C, 70–77.CrossRefPubMed

Pallares-Ruiz, N., Blanchet, P., Mondain, M., Claustres, M., & Roux, A.-F. (2002). A large deletion including most of GJB6 in recessive non syndromic deafness: A digenic effect? European J Hum Genet, 10, 72–76.CrossRef

Palmer, C. G. S., Martinez, A., Fox, M., Crandall, B., Shapiro, N., Telatar, M., et al. (2003). Genetic testing and the early hearing detection and intervention process. Volta Rev, 103, 371–390.

Pandya, A., Arnos, K. S., Xia, X. J., Welch, K. O., Blanton, S. H., Friedman, T. B., et al. (2003). Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med, 5, 295–303.PubMed

Peterson, S. K., Watts, B. G., Koehly, L. M., Vernon, S. W., Baile, W. F., Kohlmann, W. K., et al. (2003). How families communicate about HNPCC genetic testing: findings from a qualitative study. Am J Med Genet, 119C, 78–86.CrossRefPubMed

Schimmenti, L. A., Martinez, A., Fox, M., Crandall, B., Shapiro, N., Telatar, M., et al. (2004). Genetic testing as part of the Early Hearing Detection and Intervention (EHDI) process. Genet Med, 6, 521–525.PubMedCrossRef

Smith, K., Zick, C. D., Mayer, R. N., & Botkin, J. R. (2002). Voluntary disclosure of BRCA1 mutation test results. Genet Test, 6, 89–92.PubMedCrossRef

Smith, R. (2001). Mutation screening for deafness: More than simply another diagnostic test. Arch Otolaryngol, 127, 941–942.

Smith, S. (1991). Recurrence risks. Ann NY Acad Sci, 630, 203–211.PubMedCrossRef

Sorenson, J. R., Jennings-Grant, T., & Newman, J. (2003). Communication about carrier testing within hemophilia A families. Am J Med Genet C, 119, 3–10.CrossRef

Wagner Costalas, J., Itzen, M., Malick, J., Babb, J. S., Bove, B., Godwin, A. K., et al. (2003). Communication of BRCA1 and BRCA2 results to at-risk relatives: A cancer risk assessment program’s experience. Am J Med Genet C, 119, 11–18.CrossRef

Williams, J. K., & Schutte, D. L. (1997). Benefits and burdens of genetic carrier identification. Western J Nurs Res, 19, 71–81.CrossRef

Zelante, L., Gasparini, P., Estivill, X., Melchionda, S., D’Agruma, L., Govea, N., et al. (1997). Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet, 6, 1605–1609.PubMedCrossRef

Title: Sharing GJB2/GJB6 Genetic Test Information with Family Members
Authors: Terri Blase
Ariadna Martinez
Wayne W. Grody
Lisa Schimmenti
Christina G. S. Palmer
Publication date: 01-06-2007
Publisher: Kluwer Academic Publishers-Plenum Publishers
Published in: Journal of Genetic Counseling / Issue 3/2007
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-006-9066-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Sharing GJB2/GJB6 Genetic Test Information with Family Members

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2007

Using Adult Learning Theory Concepts to Address Barriers to Cancer Genetic Risk Assessment in the African American Community

Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil

Picking a Frame for Communicating About Genetics: Stigmas or Challenges

Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors

Decision-Making About Reproductive Choices Among Individuals At-Risk for Huntington's Disease

Cancer Family History Reporting: Impact of Method and Psychosocial Factors