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Why Do Parents Want to Know their Child’s Carrier Status? A Qualitative Study

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

When a child is identified with a genetic condition, some parents want to know the carrier status of their other children. There has been little exploration of why parents want this information. To address this question, semi-structured interviews were conducted with parents of 32 children with cystic fibrosis, haemophilia, and Duchenne muscular dystrophy who wanted to know the carrier status of their other children. Data was analyzed using inductive content analysis. Parents expressed a range of reasons for desiring their child’s carrier status, which fell into two broad categories: 1) benefit for the parents and 2) perceived benefit to the child. Parents discussed the desire for certainty and peace of mind derived from having knowledge of their child’s status. The most commonly expressed reason for wanting to know their child’s carrier status was in order to communicate the information to their child to provide them with the ability to make informed reproductive decisions. These reasons suggest parents are seeking their children’s carrier information both as a coping strategy and to communicate carrier information as part of their role as a parent. This has important implications for genetic counseling practice, especially as international guidelines generally recommend against carrier testing in children.

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References

  • American Medical Association. (1995). Testing children for genetic status. http://www.ama-assn.org.

  • Balfour-Lynn, I., Madge, S., & Dinwiddie, R. (1995). Testing carrier status in siblings of patients with cystic-fibrosis. Archives of Disease in Childhood, 72(2), 167–168.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Barnes, C. (1998). Testing children for balanced chromosomal translocations: parental views and experiences. In A. J. Clarke (Ed.), The genetic testing of children (pp. 51–60). Oxford: BIOS Scientific Publishers Ltd..

    Google Scholar 

  • Beresford, B. (1994). Resources and strategies: how parents cope with the care of a disabled child. Journal of Child Psychology and Psychiatry and Allied Disciplines, 35(1), 171–209.

    Article  CAS  Google Scholar 

  • Biesecker, B. B., & Peters, K. F. (2001). Process studies in genetic counseling: peering into the black box. American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 106, 191–198.

    Article  CAS  Google Scholar 

  • 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, 14(2), 133–138. doi:10.1038/sj.ejhg.5201509.

    Article  PubMed  Google Scholar 

  • Borry, P., Goffin, T., Nys, H., & Dierickx, K. (2007). Attitudes regarding carrier testing in incompetent children: a survey of European clinical geneticists. European Journal of Human Genetics, 15(12), 1211–1217. doi:10.1038/sj.ejhg.5201909.

    Article  PubMed  Google Scholar 

  • Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., et al. (2015). Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 97, 6–21.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • British Medical Association (1998). Testing of adults and children with a family history of genetic disorder Human genetics: choice and responsibility (pp. 61–99). Oxford: Oxford University Press.

    Google Scholar 

  • British Medical Association Ethics Department (2012). Medical Ethics Today: The BMA’s handbook of ethics and law (3rd (Edition ed.). West Sussex: Wiley-Blackwell.

    Book  Google Scholar 

  • 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(6), 1621–1625.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Case, D. O., Andrews, J. E., Johnson, J. D., & Allard, S. L. (2005). Avoidance versus seeking: the relationship of information seeking to avoidance, blunting, coping, dissonance, and related concepts. Journal of the Medical Library Association, 93(3), 353–362.

    PubMed  PubMed Central  Google Scholar 

  • Clarke, A. (1994). The genetic testing of children. Journal of Medical Genetics, 31(10), 785–797. doi:10.1136/jmg.31.10.785.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Committee for Public Relations and Ethical Issues of the German Society of Human Genetics. (1995). Statement on genetic diagnosis in children and adolescents. Retrieved from http://www.gfhev.de

  • Davis, D. S. (1997). Genetic dilemmas and the child's right to an open future. Rutgers Law Journal, 28, 548–592.

  • Downe-Wamboldt, B. (1992). Content analysis: method, applications, and issues. Health Care for Women International, 13, 313–321.

    Article  CAS  PubMed  Google Scholar 

  • Fanos, J., & Mackintosh, M. (1999). Never again joy without sorrow: the effect on parents of a child with Ataxia-Telangiectasia. American Journal of Medical Genetics, 87, 413–419.

    Article  CAS  PubMed  Google Scholar 

  • Farrimond, H. R., & Kelly, S. E. (2013). Public viewpoints on new non-invasive prenatal genetic tests. Public Understanding of Science, 22(6), 730–744.

    Article  PubMed  Google Scholar 

  • Feinberg, J. (1980). The child’s right to an open future. In W. Aiken & H. L. Follette (Eds.), Whose child? Children’s rights, parental authority, and state power Totowa. N.J.: Littlefield, Adams.

    Google Scholar 

  • Fryer, A. (2000). Inappropriate genetic testing of children. Archives of Disease in Childhood, 83(4), 283–285. doi:10.1136/adc.83.4.283.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Gillam, L. H. (2010). Children’s bioethics and the zone of parental discretion. Monash Bioethics Review, 29(2), 1–3.

    Article  Google Scholar 

  • Graneheim, U. H., & Lundman, B. (2004). Qualitative content analysis in nursing research: concepts, procedures and measures to achieve trustworthiness. Nurse Education Today, 24(2), 105–112.

    Article  CAS  PubMed  Google Scholar 

  • Gregory, M., Boddington, P., Dimond, R., Atkinson, P., Clarke, A., & Collins, P. (2007). Communicating about haemophilia within the family: the importance of context and of experience. Haemophilia, 13(2), 189–198. doi:10.1111/j.1365-2516.2006.01417.x.

    Article  CAS  PubMed  Google Scholar 

  • Henneman, L., Kooij, L., Bouman, K., & Ten Kate, L. P. (2002). Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families. American Journal of Medical Genetics, 110(4), 324–331.

    Article  PubMed  Google Scholar 

  • Hinds, P. S., Oakes, L., Hicks, J., Powell, B., Srivastava, D. K., Spunt, S. L., et al. (2009). “Trying to be a good parent” as defined by interviews with parents who made phase I, terminal care, and resuscitation decisions for their children. Journal of Clinical Oncology, 27(35), 5979–5985.

    Article  PubMed  PubMed Central  Google Scholar 

  • Human Genetic Society of Australasia. (2008). Process of genetic counselling. Retrieved from https://www.hgsa.org.au/documents/item/13

  • 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.

    Article  Google Scholar 

  • Jolly, A., Parsons, E. P., & Clarke, A. J. (1998). Identifying carriers of balanced chromosomal translocations: interviews with family members. In A. J. Clarke (Ed.), The genetic testing of children (pp. 61–90). Oxford: BIOS Scientific Publishers Ltd..

    Google Scholar 

  • Kai, J. (1996). Parents’ difficulties and information needs in coping with acute illness in preschool children: a qualitative study. British Medical Journal, 313(7063), 987–990.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kharrazi, M., & Kharrazi, L. D. (2005). Delayed diagnosis of cystic fibrosis and the family perspective. Journal of Pediatrics, 147(3 Suppl), S21–S25.

    Article  PubMed  Google Scholar 

  • Lucassen, A., Clancy, T., Montgomery, J., Clarke, A., Hall, A., Fryer, A.,... Parker, M. (2010). Report on the Genetic Testing of Children. Retrieved from Birmingham:

  • Mack, J. W., & Joffe, S. (2014). Communicating about prognosis: ethical responsibilities of pediatricians and parents. Pediatrics, 133(Supp 1), S24–S30.

    Article  PubMed  Google Scholar 

  • Mack, J. W., Wolfe, J., Cook, E. F., Grier, H. E., Cleary, P. D., & Weeks, J. C. (2009). Peace of mind and sense of purpose as core existential issues among parents of children with cancer. Archives of Pediatrics & Adolescent Medicine, 163(6), 519–524.

    Article  Google Scholar 

  • Maslow, A. H. (1963). The need to know and the fear of knowing. Journal of General Psychology, 68, 111–125.

    Article  CAS  PubMed  Google Scholar 

  • McCarthy Veach, P., Bartels, D. M., & LeRoy, B. S. (2007). Coming full circle: a reciprocal-engagement model of genetic counseling practice. Journal of Genetic Counseling, 16(6), 713–728.

    Article  Google Scholar 

  • McConkie-Rosell, A., & DeVellis, B. (2000). Threat to parental role: a possible mechanism of altered self-concept related to carrier knowledge. Journal of Genetic Counseling, 9(4), 285–302.

    Article  CAS  PubMed  Google Scholar 

  • McConkie-Rosell, A., & Sullivan, J. A. (1999). Genetic counseling— Stress, coping, and the empowerment perspective. Journal of Genetic Counseling, 8, 345–357.

    Article  CAS  PubMed  Google Scholar 

  • 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. doi:10.1002/(sici)1096-8628(19970110)68:1<62::aid-ajmg12>3.0.co;2-m.

    Article  CAS  PubMed  Google Scholar 

  • McConkie-Rosell, A., Spiridigliozzi, G. A., Rounds, K., Dawson, D. V., Sullivan, J. A., Burgess, D., et al. (1999). Parental attitudes regarding carrier testing in children at risk for fragile X syndrome. American Journal of Medical Genetics, 82(3), 206–211.

    Article  CAS  PubMed  Google Scholar 

  • Miller, S. M. (1980). When is a little information a dangerous thing? Coping with stressful events by monitoring versus blunting. In S. Levine & H. Ursin (Eds.), Coping and health (pp. 145–169). New York: Plenum Press.

    Chapter  Google Scholar 

  • Pain, H. (1999). Coping with a child with disabilities from the parents’ perspective: the function of information. Child: Care, Health & Development, 25(4), 299–312.

    CAS  Google Scholar 

  • Resta, R. G. (2006). Defining and redefining the scope and goals of genetic counseling. American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 142C, 269–275.

    Article  Google Scholar 

  • Ross, L. F., Saal, H. M., David, K. L., Anderson, R. R., Pediatrics, A. A. o., & Genomics, A. C. o. M. G. a. (2013). Technical report: ethical and policy issues in genetic testing and screening of children. Genetics in Medicine, 15(3), 234–245.

    Article  PubMed  Google Scholar 

  • Rushton, C. (1994). Moral decision making by parents of infants who have life-threatening congenital disorders. Washington, DC: Catholic University of America.

    Google Scholar 

  • Saleeby, D. (1997). Chapter 1. Introduction: power in the people. In D. Saleeby (Ed.), The strengths perspective in social work practice. White plains: Longman publishers.

    Google Scholar 

  • Schamber, L. (2000). Time-line interviews and inductive content analysis: their effectiveness for exploring cognitive behaviors. Journal of the American Society for Information Science, 51(8), 734–744.

    Article  Google Scholar 

  • Scott, J., & Marshall, G. (2009). A Dictionary of Sociology Social constructionism Retrieved from http://www.oxfordreference.com/views/ENTRY.html?subview=Main&entry=t88.e2118

  • Shiloh, S., & Orgler-Shoob, M. (2006). Monitoring: a dual-function coping style. Journal of Personality, 74(2), 459–478.

    Article  Google Scholar 

  • Shiloh, S., Avdor, O., & Goodman, R. M. (1990). Satisfaction with genetic counselling: dimensions and measurement. American Journal of Medical Genetics, 37, 522–529.

    Article  CAS  PubMed  Google Scholar 

  • Sollár, T., & Vanečová, J. (2012). Need for closure, ability to achieve closure and monitoring-blunting cognitive coping style. Studia Psychologica, 54(2), 137–142.

    Google Scholar 

  • Sorensen, J. R., J.-G., T., & Newman, J. (2003). Communication about carrier testing within haemophilia a families. American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 119, 3–10.

    Article  Google Scholar 

  • The Japan Society of Human Genetics, Council Committee of Ethics, Matsuda, I., Niikawa, N., Sato, K., Suzumori, K., et al. (2001). Guidelines for genetic testing. Journal of Human Genetics, 46, 163–165.

    Article  Google Scholar 

  • Thomas, S., Herbert, D., Street, A., Barnes, C., Boal, J., & Komesaroff, P. (2007). Attitudes towards and beliefs about genetic testing in the haemophilia community: a qualitative study. Haemophilia, 13(5), 633–641.

    Article  CAS  PubMed  Google Scholar 

  • Tluczek, A., Koscik, R. L., Farrell, P. M., & Rock, M. J. (2005). Psychosocial risk associated with newborn screening for cystic fibrosis: parents’ experience while awaiting the sweat-test appointment. Pediatrics, 115(6), 1692–1703.

    Article  PubMed  Google Scholar 

  • van Zuuren, F. J. (1997). Uncertainty in the information provided during genetic counseling. Patient Education and Counseling, 32, 129–139.

    Article  PubMed  Google Scholar 

  • Vears, D. F., Delany, C., & Gillam, L. (2015). Carrier testing in children: exploration of genetic health professionals’ practices in Australia. Genetics in Medicine, 17(5), 380–385.

    Article  PubMed  Google Scholar 

  • Woodgate, R. L. (2006). Living in a world without closure: reality for parents who have experienced the death of a child. Journal of Palliative Care, 22, 75–82.

    PubMed  Google Scholar 

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Acknowledgments

Danya Vears acknowledges the support of the Brocher Foundation (Geneva, Switzerland), the Research Fund Flanders (Belgium) and the Ministère de l’Économie, de l’Innovation et des Exportations du Québec, PSR-SIIRI-850 (Canada).

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Authors and Affiliations

  1. Centre for Health Equity, Melbourne School of Population and Global Health, University of Melbourne, Parkville, Australia

    Danya F Vears & Lynn Gillam

  2. Center for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Kapucijnenvoer 35, 3000, Leuven, Belgium

    Danya F Vears

  3. Murdoch Childrens Research Institute, Parkville, Australia

    Danya F Vears & John Massie

  4. Children’s Bioethics Centre, Royal Children’s Hospital, Parkville, Australia

    Danya F Vears, Clare Delany, John Massie & Lynn Gillam

  5. Department of Medical Education, Melbourne Medical School, University of Melbourne, Parkville, Australia

    Clare Delany

  6. Department of Respiratory Medicine, Royal Children’s Hospital, Parkville, Australia

    John Massie

  7. Department of Paediatrics, University of Melbourne, Parkville, Australia

    John Massie

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  1. Danya F Vears
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  2. Clare Delany
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  4. Lynn Gillam
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Correspondence to Danya F Vears.

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Funding

Danya Vears acknowledges the financial support of Research Fund Flanders (Belgium) and the Ministère de l’Économie, de l’Innovation et des Exportations du Québec, PSR-SIIRI-850 (Canada).

Conflict of Interest

Danya Vears, Clare Delany, John Massie and Lynn Gillam declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). This study was approved by the Human Research Ethics Committees at The Royal Children’s Hospital, Victoria (ID 33040 A), The Hunter New England Local Health District, New South Wales (ID 13/08/21/5.12), and The Women’s and Children’s Hospital, South Australia (HREC/12/WCHN/114; SSA/13/WCHN 130). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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Vears, D.F., Delany, C., Massie, J. et al. Why Do Parents Want to Know their Child’s Carrier Status? A Qualitative Study. J Genet Counsel 25, 1257–1266 (2016). https://doi.org/10.1007/s10897-016-9964-7

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  • DOI: https://doi.org/10.1007/s10897-016-9964-7

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