Abstract
Genetic services for deafness are being increasingly sought due to the introduction of early hearing detection and intervention programs, as well as the rapid progress in the identification of deafness genes. This study aimed to assess the motivations of consumers for pursuing genetic testing as well as their preferences for provision of these services. We conducted 5 focus groups consisting of hearing parents of deaf children, deaf parents, and unmarried deaf adults. Motivations for pursuing genetic testing included determining the etiology, helping to alleviate the guilt associated with the diagnosis of hearing loss in a child, and acquiring information to help them and other family members prepare for the future. Most participants thought that a genetic counselor/geneticist would be the most appropriate professional to provide genetics services. For culturally Deaf individuals, the communication method was seen as more important than the type of professional. Parents preferred that genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing loss.
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References
ACMG (2002). Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. genetic evaluation of congenital hearing loss expert panel. ACMG statement. Genetics in Medicine, 4(3), 162–171.
Arnos, K. S., Burton, S., Cohn, W. F., Nance, W. E., & Pandya, A. (2006). Education in the genetics of hearing loss: A model program.The American College of Medical Genetics Annual Clinical Genetics Meeting, San Diego, CA93.
Arnos, K. S., Cunningham, M., Israel, J., & Marazita, M. L. (1992). Innovative approach to genetic counseling services for the deaf population. American Journal of Medical Genetics, 44(3), 345–351.
Bowe, F. (2002). Deaf and hard of hearing Americans’ instant messaging and e-mail use: a national suvery. American Annals of the Deaf, 147(4), 6–10.
Brunger, J. W., Matthews, A. L., Smith, R. H., & Robin, N. H. (2001). Genetic testing and genetic counseling for deafness: The future is here. The Laryngoscope, 111(4 Pt 1), 715–718.
Brunger, J. W., Murray, G. S., O, , Riordan, M., Matthews, A. L., Smith, R. J., & Robin, N. H. (2000). Parental attitudes toward genetic testing for pediatric deafness. American Journal of Human Genetics, 67(6), 1621–1625.
Burton, S. K., Withrow, K., Arnos, K. S., Kalfoglou, A. L., & Pandya, A. (2006). A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness. Genetics in Medicine, 8(12), 779–783.
Dagan, O., Hochner, H., Levi, H., Raas-Rothschild, A., & Sagi, M. (2002). Genetic testing for hearing loss: Different motivations for the same outcome. American Journal of Medical Genetics, 113(2), 137–143.
Guillemin, M., & Gillam, L. (2006). Attitudes to genetic testing for deafness: The importance of informed choice. Journal of Genetic Counseling, 15(1), 51–59.
Israel, J., Cunningham, M., Thumann, H., & Arnos, K. S. (1992). Genetic counseling for deaf adults: Communication/language and cultural considerations. Journal of Genetic Counseling, 1(2), 135–153.
James, C. A., Hadley, D. W., Holtzman, N. A., & Winkelstein, J. A. (2006). How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genetics in Medicine, 8(4), 234–242.
Kenneson, A., Van Naarden Braun, K., & Boyle, C. (2002). GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genetics in Medicine, 4(4), 258–274.
Kessler, S., Kessler, H., & Ward, P. (1984). Psychological aspects of genetic counseling. III. Management of guilt and shame. American Journal of Medical Genetics, 17, 673–697.
Lenhard, W., Breitenbach, E., Ebert, H., Schindelhauer-Deutscher, H. J., & Henn, W. (2005). Psychological benefit of diagnostic certainty for mothers of children with Disabilities: Lessons from Down syndrome. American Journal of Medical Genetics, 133A, 170–175.
Martinez, A., Linden, J., Schimmenti, L. A., & Palmer, C. G. (2003). Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness. Genetics in Medicine, 5(2), 106–112.
Middleton, A., Hewison, J., & Mueller, R. F. (1998). Attitudes of deaf adults toward genetic testing for hereditary deafness. American Journal of Human Genetics, 63(4), 1175–1180.
Middleton, A., Hewison, J., & Mueller, R. (2001). Prenatal diagnosis for inherited deafness—what is the potential demand? Journal of Genetic Counseling, 10(2), 121–131.
Middleton, A., Robson, F., Burnell, L., & Ahmed, M. (2007). Providing a transcultural genetic counseling service in the UK. Journal of Genetic Counseling, 16(5), 567–582.
Nance, W. E., Liu, X. Z., & Pandya, A. (2000). Relation between choice of partner and high frequency of connexin-26 deafness. Lancet, 356(9228), 500–501.
National Coalition for Health Professional Education in Genetics, (2007). http://www.nchpeg.org.
Padden, C. (1988). Deaf in America, voices from a culture. Cambridge, MA: Harvard University Press.
Pandya, A., Withrow, K. A., Norris, V. W., Blanton, S. H., Maes, H., & Arnos, K. S. (2007). The impact of testing for hereditary deafness on the consumer: Results of a US national survey. 6th Molecular Biology of Hearing & Deafness Conference, Hinxton.
Parker, M. J., Fortnum, H. M., Young, I. D., & Davis, A. C. (2000). Genetics and deafness: What do families want? Journal of Medical Genetics, 37(10), E26.
Pilling, D., Barrett, P. (2007) Text communication preferences of deaf people in the United Kingdom. Journal of Deaf Studies and Deaf Education (in press). Retrieved December 12, 2007, from http://jdsde.oxfordjournals.org/cgi/reprint/enm034v2.
Power, M. R., Power, D., & Horstmanshof, L. (2007). Deaf people communicating via SMS, TTY, relay service, fax, and computers in Australia. Journal of Deaf Studies and Deaf Education, 12(1), 80–92.
Rosenthal, E. T., Biesecker, L. G., & Biesecker, B. B. (2001). Parental attitudes towards a diagnosis in children with unidentified multiple congenital anomaly syndromes. American Journal of Medical Genetics, 103, 106–114.
Steinberg, A. G., Kaimal, G., Bain, L., Krantz, I., & Li, Y. (2007). Parental narratives on genetic testing for children with hearing loss: A qualitative inquiry. American Journal of Medical Genetics.Part A, 143(14), 1533–1545.
Stern, S. J., Arnos, K. S., Murrelle, L., Welch, K. O., Nance, W. E., & Pandya, A. (2002). Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss. Journal of Medical Genetics, 39(6), 449–453.
Taneja, P. R., Pandya, A., Foley, D. L., Nicely, L. V., & Arnos, K. S. (2004). Attitudes of deaf individuals towards genetic testing. American Journal of Medical Genetics A, 130(1), 17–21.
VanCamp, G., & Smith, R. J. H. (2007). Hereditary hearing loss homepage. http://webhost.ua.ac.be/hhh/.
Weil, J. (2000). Psychosocial genetic counseling. New York, NY: Oxford University Press.
Weil, J. (2001). Multicultural education and genetic counseling. Clinical Genetics, 59, 143–149.
Acknowledgments
We would like to acknowledge Al Sonnenstrahl, who helped moderated our focus groups. We would also like to thank V.W. Norris, Wanda Hunt, and all of our focus group participants for their invaluable contributions to the project. This work was partially supported by NIH grant R01DC04293-01 to AP.
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Withrow, K.A., Burton, S., Arnos, K.S. et al. Consumer Motivations for Pursuing Genetic Testing and their Preferences for the Provision of Genetic Services for Hearing Loss. J Genet Counsel 17, 252–260 (2008). https://doi.org/10.1007/s10897-007-9143-y
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DOI: https://doi.org/10.1007/s10897-007-9143-y