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

J Autism Dev Disord

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.

Published: January 2019

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.

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http://dx.doi.org/10.1007/s10803-018-3768-6DOI Listing

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