Journal of Autism and Developmental Disorders

, Volume 49, Issue 1, pp 363–375 | Cite as

Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders

  • Isabelle TremblayEmail author
  • Steffany Grondin
  • Anne-Marie Laberge
  • Dominique Cousineau
  • Lionel Carmant
  • Anita Rowan
  • Annie Janvier
Original Paper


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.


Autism spectrum disorder Global developmental delay Array comparative genomic hybridization (aCGH) Genetic testing Chromosomal microarray (CMA) testing Misconception 



Autism spectrum disorder


Array comparative genomic hybridization


Chromosomal microarray


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.

Financial Support

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.

Author Contributions

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.

Ethical Approval

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

Informed consent was obtained from all individual participants included in the study.

Supplementary material

10803_2018_3768_MOESM1_ESM.docx (21 kb)
Supplementary material 1 (DOCX 21 KB)


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Psychology, Department of Medical Genetics, Centre Intégré du Réseau En Neuro-développement de l’Enfant (C.I.R.E.N.E.), Clinical Ethics UnitCHU Sainte-JustineMontréalCanada
  2. 2.Centre de génétique cardiovasculaireInstitut de cardiologie de MontréalMontréalCanada
  3. 3.Department of Medical Genetics, CHU Sainte-Justine Research CenterCHU Sainte-JustineMontréalCanada
  4. 4.Department of Pediatrics, Department of Pediatrics of the Université de Montréal, Centre Intégré du Réseau En Neuro-développement de l’Enfant (C.I.R.E.N.E.)CHU Sainte-JustineMontréalCanada
  5. 5.Department of Neurology, Centre Intégré du Réseau En Neuro-développement de l’Enfant (C.I.R.E.N.E.), CHU Sainte-Justine Research CenterCHU Sainte-JustineMontréalCanada
  6. 6.Parent RepresentativeMontréalCanada
  7. 7.Division of Neonatology of the CHU Sainte-Justine, Department of Pediatrics of the Université de Montréal, Palliative Care Unit, Clinical Ethics Unit, CHU Sainte-Justine Research Center, Bureau de l’éthique cliniqueUnité de recherche en éthique clinique et partenariat famille (UREPAF)MontréalCanada

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