nach oben

Journal of Genetic Counseling

Erschienen in:

19.10.2015 | Original Research

Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family

verfasst von: Brenna Hayes, Susan Hassed, Jae Lindsay Chaloner, Christopher E. Aston, Carrie Guy

Erschienen in: Journal of Genetic Counseling | Ausgabe 3/2016

Einloggen, um Zugang zu erhalten

Abstract

Carrier testing is widely available for multiple genetic conditions, and several professional organizations have created practice guidelines regarding appropriate clinical application and the testing of minors. Previous research has focused on carrier screening, predictive testing, and testing for X-linked conditions. However, family perspectives on carrier testing for X-linked lethal diseases have yet to be described. In this study, we explored communication within the family about carrier testing and the perspectives of mothers of sons with an X-linked lethal disease, Duchenne muscular dystrophy (DMD). Twenty-five mothers of sons with DMD participated in an anonymous online survey. Survey questions included multiple choice, Likert scale, and open ended, short answer questions. Analysis of the multiple choice and Likert scale questions revealed that most mothers preferred a gradual style of communication with their daughters regarding risk status. In addition, most participants reported having consulted with a genetic counselor and found it helpful. Comparisons between groups, analyzed using Fisher’s exact tests, found no differences in preferred style due to mother’s carrier status or having a daughter. Thematic analysis was conducted on responses to open ended questions. Themes identified included the impact of family implications, age and maturity, and a desire for autonomy regarding the decision to discuss and undergo carrier testing with at-risk daughters, particularly timing of these discussions. Implications for genetic counseling practice are discussed.

American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. (1995). Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 57(5), 1233–41. Retrieved from http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1801355&tool=pmcentrez&rendertype=abstract

Biggar, W. D. (2006). Duchenne muscular dystrophy. Pediatrics in Review / American Academy of Pediatrics, 27(3), 83–8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/16510548

Borry, P., Fryns, J.-P., Schotsmans, P., & Dierickx, K. (2006). Carrier testing in minors: a systematic review of guidelines and position papers. European Journal of Human Genetics : EJHG, 14(2), 133–138. doi:10.1038/sj.ejhg.5201509.CrossRefPubMed

Boyd, Y., & Buckle, V. J. (1986). Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clinical Genetics, 29(2), 108–15. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/3955860

Braun, V., & Clarke, V. (2008). Using thematic analysis in psychology. Retrieved from http://www.tandfonline.com/doi/abs/10.1191/1478088706qp063oa#.VMEh8i7-mQc

Burghes, A. H., Logan, C., Hu, X., Belfall, B., Worton, R. G., & Ray, P. N. (1987). A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature, 328(6129), 434–437. doi:10.1038/328434a0.CrossRefPubMed

Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., & Constantin, C. (2010). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurology, 9(1), 77–93. doi:10.1016/S1474-4422(09)70271-6.CrossRefPubMed

Cohen, L. L., Stolerman, M., Walsh, C., Wasserman, D., & Dolan, S. M. (2012). Challenges of genetic testing in adolescents with cardiac arrhythmia syndromes. Journal of Medical Ethics, 38(3), 163–167. doi:10.1136/medethics-2011-100087.CrossRefPubMedPubMedCentral

Darras, B. T., Miller, D. T., & Urion, D. K. (2014). Dystrophinopathies. Seattle: University of Washington. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1119/

Dobson, A., & Gebski, V. (1986). Sample sizes for comparing two independent proportions using the continuity-corrected arc sine transformation. The Statistician. Retrieved from http://www.jstor.org/stable/2988298

Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2007). “Holding your breath”: interviews with young people who have undergone predictive genetic testing for Huntington disease. American Journal of Medical Genetics Part A, 143A(17), 1984–1989. doi:10.1002/ajmg.a.31720.CrossRefPubMed

Emery, A. E. (1991). Population frequencies of inherited neuromuscular diseases--a world survey. Neuromuscular Disorders : NMD, 1(1), 19–29. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1822774

Etchegary, H., & Fowler, K. (2008). “They had the right to know”. Genetic risk and perceptions of responsibility. Psychology & Health, 23(6), 707–727. doi:10.1080/14768320701235249.CrossRef

Forrest, K., Simpson, S. A., Wilson, B. J., van Teijlingen, E. R., McKee, L., Haites, N., & Matthews, E. (2003). To tell or not to tell: barriers and facilitators in family communication about genetic risk. Clinical Genetics, 64(4), 317–26. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12974737

Hamilton, Brady E., Martin, Joyce A., Ventura, S. J. (2012). National vital statistics reports Volume 61, Number 5 October 3, 2012 - nvsr61_05.pdf. Retrieved March 5, 2015, from http://www.cdc.gov/nchs/data/nvsr/nvsr61/nvsr61_05.pdf

Hoogerwaard, E. M., Bakker, E., Ippel, P. F., Oosterwijk, J. C., Majoor-Krakauer, D. F., Leschot, N. J., … de Visser, M. (1999). Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet, 353(9170), 2116–9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10382696

Hopkins, P. M. (2006). Skeletal muscle physiology. Continuing Education in Anaesthesia, Critical Care & Pain, 6(1), 1–6. doi:10.1093/bjaceaccp/mki062.CrossRef

James, C. A., Holtzman, N. A., & Hadley, D. W. (2003). Perceptions of reproductive risk and carrier testing among adolescent sisters of males with chronic granulomatous disease. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 119C(1), 60–69. doi:10.1002/ajmg.c.10007.CrossRefPubMed

Klitzman, R., Thorne, D., Williamson, J., Chung, W., & Marder, K. (2007). Disclosures of Huntington disease risk within families: patterns of decision-making and implications. American Journal of Medical Genetics Part A, 143A(16), 1835–1849. doi:10.1002/ajmg.a.31864.CrossRefPubMed

Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C., & Kunkel, L. M. (1987). Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell, 50(3), 509–17. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/3607877

Levine, F. R., Coxworth, J. E., Stevenson, D. A., Tuohy, T., Burt, R. W., & Kinney, A. Y. (2010). Parental attitudes, beliefs, and perceptions about genetic testing for FAP and colorectal cancer surveillance in minors. Journal of Genetic Counseling, 19(3), 269–279. doi:10.1007/s10897-010-9285-1.CrossRefPubMedPubMedCentral

McConkie-Rosell, A., & Spiridigliozzi, G. A. (2004). “Family matters”: a conceptual framework for genetic testing in children. Journal of Genetic Counseling, 13(1), 9–29. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/19739280

Monaco, A. P., Neve, R. L., Colletti-Feener, C., Bertelson, C. J., Kurnit, D. M., & Kunkel, L. M. (1986). Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature, 323(6089), 646–650. doi:10.1038/323646a0.CrossRefPubMed

Nabukera, S. K., Romitti, P. A., Caspers, K. M., Street, N., Cunniff, C., Mathews, K. D., & Su, Y. (2013). Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy. American Journal of Medical Genetics Part A, 161A(1), 70–75. doi:10.1002/ajmg.a.35682.CrossRefPubMed

Plumridge, G., Metcalfe, A., Coad, J., & Gill, P. (2011). Parents’ communication with siblings of children affected by an inherited genetic condition. Journal of Genetic Counseling, 20(4), 374–383. doi:10.1007/s10897-011-9361-1.CrossRefPubMed

Rall, S., & Grimm, T. (2012). Survival in Duchenne muscular dystrophy. Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology / Edited by the Gaetano Conte Academy for the Study of Striated Muscle Diseases, 31(2), 117–20. Retrieved from http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3476855&tool=pmcentrez&rendertype=abstract

Ross, L. F., Saal, H. M., David, K. L., & Anderson, R. R. (2013). Technical report: ethical and policy issues in genetic testing and screening of children. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 15(3), 234–245. doi:10.1038/gim.2012.176.CrossRef

Rowland, E., & Metcalfe, A. (2013). Communicating inherited genetic risk between parent and child: a meta-thematic synthesis. International Journal of Nursing Studies, 50(6), 870–880. doi:10.1016/j.ijnurstu.2012.09.002.CrossRefPubMed

Song, T.-J., Lee, K.-A., Kang, S.-W., Cho, H., & Choi, Y.-C. (2011). Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. Yonsei Medical Journal, 52(1), 192–195. doi:10.3349/ymj.2011.52.1.192.CrossRefPubMedPubMedCentral

Sorenson, J. R., Jennings-Grant, T., & Newman, J. (2003). Communication about carrier testing within hemophilia A families. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 119C(1), 3–10. doi:10.1002/ajmg.c.10001.CrossRefPubMed

Verma, P. K., Dalal, A., Mittal, B., & Phadke, S. R. (2012). Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy. Indian Journal of Human Genetics, 18(1), 91–94. doi:10.4103/0971-6866.96667.CrossRefPubMedPubMedCentral

Wehbe, R. M., Spiridigliozzi, G. A., Heise, E. M., Dawson, D. V., & McConkie-Rosell, A. (2009). When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families. American Journal of Medical Genetics Part A, 149A(6), 1190–1199. doi:10.1002/ajmg.a.32840.CrossRefPubMedPubMedCentral

Wilson, B. J., Forrest, K., van Teijlingen, E. R., McKee, L., Haites, N., Matthews, E., & Simpson, S. A. (2004). Family communication about genetic risk: the little that is known. Community Genetics, 7(1), 15–24. doi:10.1159/000080300.CrossRefPubMed

Titel: Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family
verfasst von: Brenna Hayes
Susan Hassed
Jae Lindsay Chaloner
Christopher E. Aston
Carrie Guy
Publikationsdatum: 19.10.2015
Verlag: Springer US
Erschienen in: Journal of Genetic Counseling / Ausgabe 3/2016
Print ISSN: 1059-7700
Elektronische ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-015-9898-5

Update Gynäkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert – ganz bequem per eMail.

Newsletter bestellen

Springer Medizin

Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family

Abstract

Neu im Fachgebiet Gynäkologie und Geburtshilfe

Hirsutismus bei PCOS: Laser- und Lichttherapien helfen

ICI-Therapie in der Schwangerschaft wird gut toleriert

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

Update Gynäkologie

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2016

The Moral Reasoning of Genetic Dilemmas Amongst Jewish Israeli Undergraduate Students with Different Religious Affiliations and Scientific Backgrounds

Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers

Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland

Communication Between Breast Cancer Patients Who Received Inconclusive Genetic Test Results and Their Daughters and Sisters Years After Testing

Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome

Genetic Test Results and Disclosure to Family Members: Qualitative Interviews of Healthcare Professionals’ Perceptions of Ethical and Professional Issues in France

Neu im Fachgebiet Gynäkologie und Geburtshilfe

Hirsutismus bei PCOS: Laser- und Lichttherapien helfen

ICI-Therapie in der Schwangerschaft wird gut toleriert

Weniger postpartale Depressionen nach Esketamin-Einmalgabe

Bei RSV-Impfung vor 60. Lebensjahr über Off-Label-Gebrauch aufklären!

Update Gynäkologie