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

Isabelle Tremblay¹, Steffany Grondin², Anne-Marie Laberge³, Dominique Cousineau⁴, Lionel Carmant⁵, Anita Rowan⁶, Annie Janvier⁷

Affiliations

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 Unit, CHU Sainte-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada. isatremblay2002@yahoo.ca.
² Centre de génétique cardiovasculaire, Institut de cardiologie de Montréal, 5000 rue Bélanger, Montréal, QC, H1T 1C7, Canada.
³ Department of Medical Genetics, CHU Sainte-Justine Research Center, CHU Sainte-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.
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-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.
⁵ Department of Neurology, Centre Intégré du Réseau En Neuro-développement de l'Enfant (C.I.R.E.N.E.), CHU Sainte-Justine Research Center, CHU Sainte-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.
⁶ Parent Representative, 5380 rue de Cadillac, Montréal, QC, H1M 2L2, Canada.
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 clinique, Unité de recherche en éthique clinique et partenariat famille (UREPAF), 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.

PMID: 30284667
DOI: 10.1007/s10803-018-3768-6

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

Isabelle Tremblay et al. J Autism Dev Disord. 2019 Jan.

. 2019 Jan;49(1):363-375.

doi: 10.1007/s10803-018-3768-6.

Authors

Isabelle Tremblay¹, Steffany Grondin², Anne-Marie Laberge³, Dominique Cousineau⁴, Lionel Carmant⁵, Anita Rowan⁶, Annie Janvier⁷

Affiliations

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 Unit, CHU Sainte-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada. isatremblay2002@yahoo.ca.
² Centre de génétique cardiovasculaire, Institut de cardiologie de Montréal, 5000 rue Bélanger, Montréal, QC, H1T 1C7, Canada.
³ Department of Medical Genetics, CHU Sainte-Justine Research Center, CHU Sainte-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.
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-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.
⁵ Department of Neurology, Centre Intégré du Réseau En Neuro-développement de l'Enfant (C.I.R.E.N.E.), CHU Sainte-Justine Research Center, CHU Sainte-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.
⁶ Parent Representative, 5380 rue de Cadillac, Montréal, QC, H1M 2L2, Canada.
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 clinique, Unité de recherche en éthique clinique et partenariat famille (UREPAF), 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.

PMID: 30284667
DOI: 10.1007/s10803-018-3768-6

Abstract

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.

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

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References

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

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

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