Skip to main content
Top
Published in: Journal of Genetic Counseling 6/2015

01-12-2015 | Original Research

Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan

Authors: Mikiko Kaneko, Hirofumi Ohashi, Tomoko Takamura, Hiroshi Kawame

Published in: Journal of Genetic Counseling | Issue 6/2015

Login to get access

Abstract

Undergoing chromosome analysis and receiving the results may have various psychosocial effects. To identify the impact on balanced translocation carriers identified through affected offspring, we conducted semi-structured interviews with eleven parents at Saitama Children’s Medical Center. The results of the interviews were analyzed qualitatively by the KJ (Kawakita Jiro) method. Categories and subcategories of the various thoughts, emotions and responses experienced by balanced chromosomal translocation carriers were extracted. Participants’ reactions were mixed, and appeared to be interrelated in some cases. Parents’ reactions were sometimes ambivalent with regard to effects on reproductive issues and disclosure of test results. We recommend genetic counseling before and after carrier testing to help parents cope with the mixed and complex thoughts and feelings that arise upon being identified as a carrier.
Literature
go back to reference Anido, A., Carlson, L. M., Taft, L., & Sherman, S. L. (2005). Women’s attitudes toward testing for fragile X carrier status: a qualitative analysis. Journal of Genetic Counseling, 14(1), 295–306.CrossRefPubMed Anido, A., Carlson, L. M., Taft, L., & Sherman, S. L. (2005). Women’s attitudes toward testing for fragile X carrier status: a qualitative analysis. Journal of Genetic Counseling, 14(1), 295–306.CrossRefPubMed
go back to reference Anido, A., Carlson, L. M., & Sherman, S. L. (2007). Attitudes toward fragile X mutation carrier testing from women identified in a general population survey. Journal of Genetic Counseling, 16(1), 97–104.CrossRefPubMed Anido, A., Carlson, L. M., & Sherman, S. L. (2007). Attitudes toward fragile X mutation carrier testing from women identified in a general population survey. Journal of Genetic Counseling, 16(1), 97–104.CrossRefPubMed
go back to reference Axworthy, D., Brock, D., Bobrow, M., & Marteau, T. M. (1996). Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK cystic fibrosis follow-Up study group. Lancet, 347(9013), 1443–1446.CrossRefPubMed Axworthy, D., Brock, D., Bobrow, M., & Marteau, T. M. (1996). Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK cystic fibrosis follow-Up study group. Lancet, 347(9013), 1443–1446.CrossRefPubMed
go back to reference Bache, I., Brondum-Nielsen, K., & Tommerup, N. (2007). Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: experiences from a nationwide reexamination of translocation carriers. Genetics in Medicine, 9(3), 185–187.CrossRefPubMed Bache, I., Brondum-Nielsen, K., & Tommerup, N. (2007). Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: experiences from a nationwide reexamination of translocation carriers. Genetics in Medicine, 9(3), 185–187.CrossRefPubMed
go back to reference Bakker, H., Denniss, G., Modell, M., Bobrow, M., & Marteau, T. (1994). The impact of population based screening for carriers of cystic fibrosis. Journal of Medical Genetics, 31(5), 364–368.CrossRef Bakker, H., Denniss, G., Modell, M., Bobrow, M., & Marteau, T. (1994). The impact of population based screening for carriers of cystic fibrosis. Journal of Medical Genetics, 31(5), 364–368.CrossRef
go back to reference Dunn, N. F., Miller, R., Griffioen, A., & Lee, C. A. (2008). Carrier testing in hemophilia A and B: adult carriers’ and their partners’ experiences and their views on the testing of young females. Hemophilia, 14(3), 584–592.CrossRef Dunn, N. F., Miller, R., Griffioen, A., & Lee, C. A. (2008). Carrier testing in hemophilia A and B: adult carriers’ and their partners’ experiences and their views on the testing of young females. Hemophilia, 14(3), 584–592.CrossRef
go back to reference Fisher, N. L. (1996). Cultural and ethnic diversity: A guide for genetics professionals. Baltimore: The Johns Hopkins University Press, Baltimore. Fisher, N. L. (1996). Cultural and ethnic diversity: A guide for genetics professionals. Baltimore: The Johns Hopkins University Press, Baltimore.
go back to reference Gardner, R. L. M., & Sutherland, G. R. (Ed.). (2004). Elements of Medical Genetics. In: Chromosome Abnormalities and Genetic Counseling, 3rd Ed., Oxford University Press, p. 3–20. Gardner, R. L. M., & Sutherland, G. R. (Ed.). (2004). Elements of Medical Genetics. In: Chromosome Abnormalities and Genetic Counseling, 3rd Ed., Oxford University Press, p. 3–20.
go back to reference Henneman, L., Bramsen, I., van der Ploeg, H. M., & ten Kate, L. P. (2002). Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. Genetic Testing, 6(3), 195–202.CrossRefPubMed Henneman, L., Bramsen, I., van der Ploeg, H. M., & ten Kate, L. P. (2002). Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. Genetic Testing, 6(3), 195–202.CrossRefPubMed
go back to reference James, C. A., Hadley, D. W., Holtzman, N. A., & Winkelstein, J. A. (2006). How does the mode of inderitance 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, 234–242.CrossRefPubMed James, C. A., Hadley, D. W., Holtzman, N. A., & Winkelstein, J. A. (2006). How does the mode of inderitance 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, 234–242.CrossRefPubMed
go back to reference Kaneko, M., Ohashi, H., Takamura, T., & Kawame, H. (2013). Diagnosis of a balanced translocation carrier and genetic counseling. Journal of Pediatric Society, 117(11), 1781–1787 (in Japanese). Kaneko, M., Ohashi, H., Takamura, T., & Kawame, H. (2013). Diagnosis of a balanced translocation carrier and genetic counseling. Journal of Pediatric Society, 117(11), 1781–1787 (in Japanese).
go back to reference Kawakita, J. (1986). KJ method. Tokyo: Chu-kou shinsyo (in Japanese). Kawakita, J. (1986). KJ method. Tokyo: Chu-kou shinsyo (in Japanese).
go back to reference Kawame, H. (2005). Problem and classification in genetic testing: carrier testing. Nippon Rinsho, 63(Suppl 12), 99–103 (in Japanese).PubMed Kawame, H. (2005). Problem and classification in genetic testing: carrier testing. Nippon Rinsho, 63(Suppl 12), 99–103 (in Japanese).PubMed
go back to reference Lakeman, P., Plass, A., Henneman, L., Bezemer, P. D., Cprnel, M. C., & ten Kate, L. P. (2008). Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands. Genetics in Medicine, 10(11), 820–830.CrossRefPubMed Lakeman, P., Plass, A., Henneman, L., Bezemer, P. D., Cprnel, M. C., & ten Kate, L. P. (2008). Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands. Genetics in Medicine, 10(11), 820–830.CrossRefPubMed
go back to reference Marteau, T. M., Dundas, R., & Axworthy, D. (1997). Long-term cognitive and emotional impact of genetic testing for carriers of cystic fibrosis: The effects of test result and gender. Health Psychology, 16(1), 51–62.CrossRefPubMed Marteau, T. M., Dundas, R., & Axworthy, D. (1997). Long-term cognitive and emotional impact of genetic testing for carriers of cystic fibrosis: The effects of test result and gender. Health Psychology, 16(1), 51–62.CrossRefPubMed
go back to reference McConkie-Rosell, A., Spiridigliozzi, G. A., Iafolla, T., Tarleton, J., & Lachiewicz, A. M. (1997). Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers. American Journal of Medical Genetics, 68(1), 62–69.CrossRefPubMed McConkie-Rosell, A., Spiridigliozzi, G. A., Iafolla, T., Tarleton, J., & Lachiewicz, A. M. (1997). Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers. American Journal of Medical Genetics, 68(1), 62–69.CrossRefPubMed
go back to reference Skirton, H. (1995). Psychological implications of advances in genetics–1: carrier testing. Professional Nurse, 10, 496–498. Skirton, H. (1995). Psychological implications of advances in genetics–1: carrier testing. Professional Nurse, 10, 496–498.
go back to reference Skirton, H., Evans, R., & Evans, E. (2004). More than just science: one family’s story of a chromosome translocation diagnosis. Paediatric Nursing, 16, 18–21.CrossRefPubMed Skirton, H., Evans, R., & Evans, E. (2004). More than just science: one family’s story of a chromosome translocation diagnosis. Paediatric Nursing, 16, 18–21.CrossRefPubMed
go back to reference Suslak, L., Price, M., & Desposit, F. (1985). Transmitting balanced translocation carrier information within families: a follow-up study. American Journal of Medical Genetics, 20, 227–232.CrossRefPubMed Suslak, L., Price, M., & Desposit, F. (1985). Transmitting balanced translocation carrier information within families: a follow-up study. American Journal of Medical Genetics, 20, 227–232.CrossRefPubMed
go back to reference Williams, J. K., & Schutte, D. L. (1997). Benefits and burdens of genetic carrier identification. Western Journal of Nursing Research, 19(1), 71–81.CrossRefPubMed Williams, J. K., & Schutte, D. L. (1997). Benefits and burdens of genetic carrier identification. Western Journal of Nursing Research, 19(1), 71–81.CrossRefPubMed
go back to reference Wolff, G., Back, E., Arleth, S., & Rapp-Korner, U. (1989). Genetic counseling in families with inherited balanced translocations: experience with 36 families. Clinical Genetics, 35, 404–416.CrossRefPubMed Wolff, G., Back, E., Arleth, S., & Rapp-Korner, U. (1989). Genetic counseling in families with inherited balanced translocations: experience with 36 families. Clinical Genetics, 35, 404–416.CrossRefPubMed
Metadata
Title
Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan
Authors
Mikiko Kaneko
Hirofumi Ohashi
Tomoko Takamura
Hiroshi Kawame
Publication date
01-12-2015
Publisher
Springer US
Published in
Journal of Genetic Counseling / Issue 6/2015
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-015-9828-6

Other articles of this Issue 6/2015

Journal of Genetic Counseling 6/2015 Go to the issue