“They Just Want to Know” - Genetic Health Professionals' Beliefs About Why Parents Want to Know their Child's Carrier Status
In the context of a child being diagnosed with a genetic condition, reports from both parents and health professionals suggest many genetic health professionals are reluctant to provide carrier testing for unaffected siblings, despite the lack of evidence of harm. We propose that genetic health professionals’ understandings of why parents want to have their children tested may contribute to their reluctance to test. We draw on interviews with 17 genetic health professionals, reporting their beliefs about parents’ motivations for testing and their intentions to communicate results to their children. Data were analyzed using inductive content analysis. Genetic health professionals reported attributions that contrasted with reasons parents actually report. These disparities fall into two categories: 1) attributing reasons that parents do not themselves report (i.e. for reassurance about their child’s health), and 2) not recognizing the reasons that parents actually do report for wanting testing (i.e. to communicate the information to their child). By identifying that genetic health professionals may be misattributing reasons to parents for desiring their child”s carrier status, they may be missing an opportunity to assist parents to make decisions that are in line with their values and the best interests of the family.
KeywordsGenetic testing Carrier testing Children, parenting Gatekeeping Genetic counseling Communication Disclosure
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).
Compliance with Ethical Standards
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.
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 Committee at The University of Melbourne, Victoria, Australia (ID 1137204).
Informed consent was obtained from all participants for being included in the study.
- American Medical Association. (1995). Testing children for genetic status. http://www.ama-assn.org.
- 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), 1233–1241.PubMedCentralGoogle Scholar
- 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. doi: 10.1097/GIM.0b013e3180314671.CrossRefPubMedGoogle 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
- 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.CrossRefPubMedPubMedCentralGoogle 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
- Chapple, A., May, C., & Campion, P. (1998). Predictive and carrier testing of children: professional dilammas for clinical geneticists. In A. J. Clarke (Ed.), The genetic testing of children (pp. 195–210). Oxford: BIOS Scientific Publishers Ltd.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
- Human Genetic Society of Australasia. (2008). Process of genetic counselling. Retrieved from https://www.hgsa.org.au/documents/item/13
- 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
- Lavery, C. (1998). On the receiving end of medicine. In A. J. Clarke (Ed.), The genetic testing of children. Oxford: BIOS Scientific Publishers Ltd..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: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.CrossRefPubMedGoogle Scholar
- McDougall, R. J., & Notini, L. (2014). Overriding parents’ medical decisions for their children: a systematic review of normative literature. Clinical Ethics, 40, 448–452.Google Scholar
- Noke, M., Peters, S., Wearden, A., & Ulph, F. (2015). A qualitative study to explore how professionals in the United Kingdom make decisions to test children for a sickle cell carrier status. European Journal of Human Genetics, Advance online 27 May.Google Scholar
- Ross, L. F. (1998). Children, families and health care decision-making. Oxford: Clarendon Press.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.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
- 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
- Vears, D. F. (2016). Genetic carrier testing in children. In R. McDougall, C. Delany, & L. Gillam (Eds.), When doctors and parents disagree: ethics, paediatrics and the zone of parental discretion. Sydney: Federation Press.Google Scholar
- Vears, D. F., Delany, C., Massie, J., & Gillam, L. (2016a). Parents' experiences of requesting carrier testing for their unaffected children. Genetics in Medicine, 18(12), 1199–1205.Google Scholar
- Vears, D. F., Delany, C., Massie, J., & Gillam, L. (2016b). Why do parents want to know their child’s carrier status? A qualitative study. Journal of Genetic Counseling, 25(6), 1257–1266.Google Scholar