Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders
Parents’ understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child’s clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations.
KeywordsAutism spectrum disorder Global developmental delay Array comparative genomic hybridization (aCGH) Genetic testing Chromosomal microarray (CMA) testing Misconception
Autism spectrum disorder
Array comparative genomic hybridization
Global developmental delay
Variant of unknown significance
We would like to thank the CHU Sainte-Justine, the Medicine Faculty of University of Montreal and the Fondation du Grand Défi Pierre Lavoie for their financial support. Finally, we would like to thank every parent who participated to this study.
Isabelle Tremblay received financial support (scholarship) from the CHU Sainte-Justine, the Faculty of Medicine of University of Montreal and the Fondation du Grand Défi Pierre Lavoie. Anne-Marie Laberge received financial support from the Canadian Institutes of Health Research and the Fonds de Recherche en Santé du Québec. Annie Janvier receives financial support from the Fonds de Recherche en Santé du Québec.
IT co-designed the study, wrote the study protocol, performed thematic analysis and quantitative analysis and wrote the initial manuscript. SG conducted interviews, performed thematic analysis and quantitative analysis and contributed to the first version of manuscript. AML co-designed the study, gave feedback during data collection and analysis, reviewed the manuscript and accepted the final version of the article. DC co-designed the study, reviewed the manuscript and accepted the final version of the article. LC co-designed the study, reviewed the manuscript and accepted the final version of the article. AR co-designed the study, reviewed the manuscript and accepted the final version of the article. AJ co-designed the study, reviewed the study protocol, performed thematic analysis, contributed to the first version of the manuscript. Reviewed the manuscript and accepted the final version of the article. All authors read and approved the final manuscript.
Compliance with Ethical Standards
Conflict of interest
Isabelle Tremblay has received financial support (scholarship) from the CHU Sainte-Justine, the Medicine Faculty of University of Montreal and the Fondation du Grand Défi Pierre Lavoie. Steffany Grondin, Anne-Marie Laberge, Dominique Cousineau, Lionel Carmant, Anita Rowan and Annie Janvier declares that they have no conflict of interest.
All procedure performed in this study were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This study was approved by the ethical board of the CHU Sainte-Justine.
Informed consent was obtained from all individual participants included in the study.
- American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Washington, DC.Google Scholar
- Creswell, J. W. (2003). Research design: Qualitative, quantitative and mixed method approaches (2nd edn.). Thousand Oaks (CA): Sage Publications.Google Scholar
- D’Arrigo, S., Gavazz, F., Alfei, E., Zuffardi, O., Montomoli, C., Corso, B., et al. (2016). The diagnostic yield of array comparative genomic hybridization is high regardless of severity of intellectual disability/developmental delay in children. Journal of Child Neurology, 31(6), 691–699.CrossRefPubMedGoogle Scholar
- Denzin, N. K., & Lincoln, Y. S. (2000). Handbook of qualitative research (2nd edn.). Thousand Oaks (CA): Sage Publications.Google Scholar
- Michelson, D. J., Shevell, M. I., Sherr, M. H., Moeschler, J. B., Gropman, A. L., & Ashwal, S. (2011). Evidence report: Genetic and metabolic testing on children with global developmental delay. Report of the quality standards subcommittee of the American Academy of neurology and the practice committee of the child neurology society. Neurology, 77(17), 1629–1635.CrossRefPubMedGoogle Scholar
- Nygren, G., Cederlund, M., Sandberg, E., Gillstedt, F., Arvidsson, T., Gillberg, C., I. et al (2012). The prevalence of autism spectrum disorders in toddlers: A population study of 2-year-old Swedish children. Journal of Autism and Developmental Disorders, 42(7), 1491–1497.CrossRefPubMedGoogle Scholar
- Public Health Agency of Canada. (2018). Autism spectrum disorder among children and youth in Canada 2018: A report of the national autism spectrum disorder surveillance system. Ottawa: Public Health Agency of Canada.Google Scholar
- Shaffer, L. G. & American College of Medical Genetics Professional Practice and Guidelines Committee (2005). American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genetics in Medicine, 7(9), 650–654.CrossRefPubMedPubMedCentralGoogle Scholar
- Shevell, M., Ashwal, S., Donley, D., Flint, J., Gingold, M., Hirtz, D., et al. (2003). Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology, 60(3), 367–380.CrossRefGoogle Scholar
- Shur, N., Gunn, S., Feit, L., Oh, A. K., Yatchmink, Y., & Abuelo, D. (2011). The role of new genetic technology in investigating autism and developmental delay. Medicine & Health/Rhode Island, 94(5), 134–137.Google Scholar
- Thomaidis, L., Zantopoulos, G. Z., Fouzas, S., Mantagou, L., Bakoula, C., & Konstantopoulos, A. (2014). Predictors of severity and outcome of global developmental delay without definitive etiologic yield: A prospective observational study. BMC Pediatrics, 14, 40. https://doi.org/10.1186/1471-2431-14-40.CrossRefPubMedPubMedCentralGoogle Scholar