Journal of Genetic Counseling

, Volume 17, Issue 1, pp 129–138

Ethnic Differences in Parental Perceptions of Genetic Testing for Deaf Infants

  • Christina G. S. Palmer
  • Ariadna Martinez
  • Michelle Fox
  • Yvonne Sininger
  • Wayne W. Grody
  • Lisa A. Schimmenti
Original Research

Abstract

As genetic testing becomes an integral part of the evaluation of deaf infants and children, it is important to understand parental views on genetic testing. The purpose of this study is to examine parental reasons for, and beliefs about, genetic testing for deafness in early-identified infants, and to determine if they differ as a function of ethnicity. We present baseline data collected from 56 Caucasian, 59 Hispanic, and 24 Asian parents of deaf children participating in a longitudinal, prospective study on genetic testing for connexin-related deafness. The overall finding is that reasons for, and beliefs about, genetic testing for deafness varied as a function of ethnicity. Virtually all parents sought genetic testing to understand why their child is deaf. However, Asian and/or Hispanic parents were more likely than Caucasian parents to view family planning, helping with their child’s medical care, and helping the family as other important reasons for testing, and were more likely than Caucasian parents to perceive genetic testing to be useful for these purposes. Asian and Hispanic parents were more likely than Caucasian parents to perceive genetic testing in harmful terms. Genetic testing fulfills a cognitive need for parents to understand why their child is deaf, yet differences in responses suggest that Asian and Hispanic parents may seek testing for other purposes. Understanding different perspectives on genetic testing for deafness will enhance genetic counselors’ cultural competence and facilitate the pre-test genetic counseling session.

Keywords

Connexin 26 GJB2 Genetic testing Newborn hearing screening Hearing loss Hearing impairment 

References

  1. American College of Medical Genetics (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, 162–171.CrossRefGoogle Scholar
  2. Box, G. E. P., Hunter, W. G., & Hunter, J. S. (1978). Statistics for experimenters. New York: Wiley.Google Scholar
  3. Brunger, J. W., Murray, G. S., O’Riordan, M., Matthews, A. L., Smith, R. J. H., & Robin, N. H. (2000). Parental attitudes toward genetic testing for pediatric deafness. American Journal of Human Genetics, 67, 1621–1625.PubMedCrossRefGoogle Scholar
  4. 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, 779–783.PubMedCrossRefGoogle Scholar
  5. 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, 137–143.Google Scholar
  6. del Castillo, I., Moreno-Pelayo, M. A., Del Castillo, F. J., Brownstein, Z., Marlin, S., & Adina, Q., et al. (2003). Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: A multicenter study. American Journal of Human Genetics, 73, 1452–1458.PubMedCrossRefGoogle Scholar
  7. 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 England Journal of Medicine, 346, 243–249.PubMedCrossRefGoogle Scholar
  8. Denoyelle, F., Weil, D., Maw, M. A., Wilcox, S. A., Lench, N. J., & Allen-Powell, D. R., et al. (1997). Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Human Molecular Genetics, 6, 2173–2177.PubMedCrossRefGoogle Scholar
  9. de Swanepoel, W., Louw, B., & Hugo, R. (2007). A novel service delivery model for infant hearing screening in developing countries. International Journal of Audiology, 46, 321–327.CrossRefGoogle Scholar
  10. Freeberg, A. L., & Stein, C. H. (1996). Felt obligation towards parents in Mexican-American and Anglo-American young adults. Journal of Social and Personal Relationship, 13, 457–471.CrossRefGoogle Scholar
  11. Glanz, K., Grove, J., Lerman, C., Gotay, C., & Le Marchand, L. (1999). Correlates of intentions to obtain genetic counseling and colorectal cancer gene testing among at-risk relatives from three ethnic groups. Cancer Epidemiology, Biomarkers & Prevention, 8, 329–336.Google Scholar
  12. Gorlin, R. J., Toriello, H. V., & Cohen Jr., M. M. (1995). Hereditary hearing loss and its syndromes. New York: Oxford University Press.Google Scholar
  13. 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.PubMedCrossRefGoogle Scholar
  14. Hietala, M., Hakonen, A., Aro, A. R., Niemela, P., Peltonen, L., & Aula, P. (1995). Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland. American Journal of Human Genetics, 56, 1493–1500.PubMedGoogle Scholar
  15. Hipps, Y. G., Roberts, J. S., Farrer, L. A., & Green, R. C. (2003). Differences between African Americans and Whites in their attitudes toward genetic testing for Alzheimer's disease. Genetic Testing, 7, 39–44.PubMedCrossRefGoogle Scholar
  16. Joint Committee on Infant Hearing (2000). Year 2000 position statement. Audiology Today, 3, 23.Google Scholar
  17. Kelley, P. M., Harris, D. J., Comer, B. C., Askew, J. W., Fowler, T., & Smith, S. D., et al. (1998). Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. American Journal of Human Genetics, 62, 792–799.PubMedCrossRefGoogle Scholar
  18. Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., & Parry, G., et al. (1997). Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature, 387, 80–83.PubMedCrossRefGoogle Scholar
  19. Kennedy, C., & McCann, D. (2004). Universal neonatal hearing screening moving from evidence to practice. Archives of Disease in Childhood. Fetal and Neonatal Edition, 89, F378–F383.PubMedCrossRefGoogle Scholar
  20. Kenneson, A., Braun, K. V. N., & Boyle, C. (2002). GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genetics in Medicine, 4, 258–274.PubMedCrossRefGoogle Scholar
  21. Lerer, I., Sagi, M., Ben-Neriah, Z., Wang, T., Levi, H., & Abeliovich, D. (2001). A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Human Mutation, 18, 460.PubMedCrossRefGoogle Scholar
  22. Lerman, C., Biesecker, B., Benkendorf, J. L., Kerner, J., Gomez-Caminero, A., & Hughes, C., et al. (1997). Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing. Journal of the National Cancer Institute, 89, 148–157.PubMedCrossRefGoogle Scholar
  23. Marlin, S., Garabedian, E. N., Roger, G., Moatti, L., Matha, N., & Lewin, P., et al. (2001). Connexin 26 gene mutations in congenitally deaf children. Archives of Otolaryngology, Head & Neck Surgery, 127, 927–933.Google Scholar
  24. Martinez, A., Linden, J., Schimmenti, L. A., & Palmer, C. G. S. (2003). Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness. Genetics in Medicine, 5, 106–112.PubMedCrossRefGoogle Scholar
  25. Middleton, A., Hewison, J., & Mueller, R. F. (1998). Attitudes of deaf adults toward genetic testing for hereditary deafness. American Journal of Human Genetics, 63, 1175–1180.PubMedCrossRefGoogle Scholar
  26. Modell, B. (1997). Kinship and medical genetics: A clinician's perspective. In A. Clarke, & E. Parsons (Eds.) Culture, kinship and genes (pp. 27–39). London: Macmillan.Google Scholar
  27. Morton, N. D. (1991). Genetic epidemiology of hearing impairment. Annals of the New York Academy of Science, 630, 16–31.CrossRefGoogle Scholar
  28. Morton, C. C., & Nance, W. E. (2006). Newborn hearing screening—A silent revolution. New England Journal of Medicine, 354, 2151–2164.PubMedCrossRefGoogle Scholar
  29. Palmer, C. G. S. (2003). Risk perception: another look at the ‘white male’ effect. Health, Risk and Society, 5, 71–83.CrossRefGoogle Scholar
  30. Palmer, C. G. S., Carlstrom, L. K., & Woodward, J. A. (2001). Risk perception and ethnicity. Risk Decision & Policy, 6, 187–206.Google Scholar
  31. Prasad, S., Cucci, R. A., Green, G. E., & Smith, R. J. (2000). Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Human Mutation, 16, 502–508.PubMedCrossRefGoogle Scholar
  32. Rabionet, R., Gasparini, P., & Estivill, X. (2000a). Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Human Mutation, 16, 190–202.PubMedCrossRefGoogle Scholar
  33. Rabionet, R., Zelante, L., Lopez-Bigas, N., D'Agruma, L., Melchionda, S., & Restagno, G., et al. (2000b). Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Human Genetics, 106, 40–44.PubMedCrossRefGoogle Scholar
  34. Rodriguez, N., Mira, C. B., Paez, N. D., & Myers, H. F. (2007). Exploring the complexities of familism and acculturation: Central constructs for people of Mexican origin. American Journal of Community Psychology, 39, 61–77.PubMedCrossRefGoogle Scholar
  35. SAS (2002). SAS (Version 9.1). Cary, North Carolina: SAS Institute Inc.Google Scholar
  36. 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. Genetics in Medicine, 6, 521–525.PubMedCrossRefGoogle Scholar
  37. Singer, E., Antonucci, T., & Van Hoewyk, J. (2004). Racial and ethnic variations in knowledge and attitudes about genetic testing. Genetic Testing, 8, 31–43.PubMedCrossRefGoogle Scholar
  38. 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, 143A, 1533–1545.CrossRefGoogle Scholar
  39. Tan, E. K., Lee, J., Hunter, C., Shinawi, L., Fook-Chong, S., & Jankovic, J. (2007). Comparing knowledge and attitudes towards genetic testing in Parkinson's disease in an American and Asian population. Journal of the Neurological Sciences, 252, 113–120.PubMedCrossRefGoogle Scholar
  40. 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, 130A, 17–21.CrossRefGoogle Scholar
  41. Thompson, H. S., Valdimarsdottir, H. B., Jandorf, L., & Redd, W. (2003). Perceived disadvantages and concerns about abuses of genetic testing for cancer risk: Differences across African American, Latina and Caucasian women. Patient Education and Counseling, 51, 217–227.PubMedCrossRefGoogle Scholar
  42. Vaughan, E., & Nordenstam, B. (1991). The perception of environmental risks among ethnically diverse groups. Journal of Cross-Cultural Psychology, 22, 29–60.CrossRefGoogle Scholar
  43. Wang, V., & Marsh, F. H. (1992). Ethical principles and cultural integrity in health care delivery: Asian ethnocultural perspectives in genetic services. Journal of Genetic Counseling, 1, 81–92.PubMedCrossRefGoogle Scholar
  44. Yoshinaga-Itano, C., Sedey, A. L., Coulter, D. K., & Mehl, A. L. (1998). Language of early- and later-identified children with hearing loss. Pediatrics, 102, 1161–1171.PubMedCrossRefGoogle Scholar
  45. Zelante, L., Gasparini, P., Estivill, X., Melchionda, S., D'Agruma, L., & Govea, N., et al. (1997). Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Human Molecular Genetics, 6, 1605–1609.PubMedCrossRefGoogle Scholar
  46. Zimmerman, R. K., Tabbarah, M., Nowalk, M. P., Raymund, M., Jewell, I. K., & Wilson, S. A., et al. (2006). Racial differences in beliefs about genetic screening among patients at inner-city neighborhood health centers. Journal of the National Medical Association, 98, 370–377.PubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2007

Authors and Affiliations

  • Christina G. S. Palmer
    • 1
    • 2
    • 7
  • Ariadna Martinez
    • 1
  • Michelle Fox
    • 3
  • Yvonne Sininger
    • 4
  • Wayne W. Grody
    • 2
    • 5
  • Lisa A. Schimmenti
    • 6
  1. 1.Department of Psychiatry and Biobehavioral SciencesUniversity of CaliforniaLos AngelesUSA
  2. 2.Department of Human GeneticsUniversity of CaliforniaLos AngelesUSA
  3. 3.Department of PediatricsUniversity of CaliforniaLos AngelesUSA
  4. 4.Department of Head and Neck SurgeryUniversity of CaliforniaLos AngelesUSA
  5. 5.Department of Pathology and Laboratory MedicineUniversity of CaliforniaLos AngelesUSA
  6. 6.Department of Pediatrics and Ophthalmology, Institute of Human GeneticsUniversity of MinnesotaMinneapolisUSA
  7. 7.UCLA Semel InstituteLos AngelesUSA

Personalised recommendations