Genetic Testing and Autism: Tutorial for Communication Sciences and Disorders

Publication date: Available online 28 May 2018
Source:Journal of Communication Disorders
Author(s): Laura S. DeThorne, Stephanie Ceman
This tutorial provides professionals in communication sciences and disorders with an overview of the molecular basis and parental perceptions of genetic testing as associated with autism. The introduction notes the prominence of genetic testing within present-day medical practices and highlights related limitations and concerns through the lens of disability critique. The body of the tutorial provides an overview of four different forms of genetic variation, highlighting the potential associations with autism and available genetic testing. In sum, most autism cases cannot be associated directly with specified forms of genetic variation but are attributed instead to multiple genetic and environmental influences working in concert. Finally, the discussion focuses on parental perceptions of the genetic testing associated with autism, both the potential benefits and harms, and emphasizes the need to integrate first-person perspectives from autistic individuals.Learning Outcomes: Readers will a) gain an interdisciplinary introduction to the landscape of genetic testing and autism, b) become familiar with the different forms of genetic testing currently available, c) be able to highlight potential benefits and harms associated with genetic testing, and d) be able to offer three explicit recommendations for individuals and families considering genetic testing related to autism.



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