Autism spectrum disorder and genetic testing: Parental perceptions and decision-making

Journal for Specialists in Pediatric Nursing : JSPN
Alyson E HanishLois J Starr

Abstract

Advances in genomic technology and research have led to genetic testing being recognized as an essential component of the etiological workup for children with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is a first-tier diagnostic test for patients with ASD, as recommended by the American College of Medical Genetics and other professional societies. An accurate underlying medical diagnosis for ASD has many potential benefits, including appropriate medical management, detailed therapeutic recommendations, and accurate recurrence risk. Genetic testing is relatively complicated, expensive, and, currently, in the majority of the cases, does not provide any organic improvement in the management of symptoms. We conducted semistructured interviews with 20 parents to explore the decision-making process of genetic testing from the perspectives and experiences of parents of children with ASD. Data were analyzed using qualitative content analysis. Parents had limited knowledge of genetic testing for ASD prior to a genetics clinic visit. The majority of the participants thought genetic testing would be beneficial for their child, their reproductive choices, and potential future generations. Various stakeholders (ge...Continue Reading

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Citations

Sep 26, 2021·American Journal of Medical Genetics. Part a·Heather M LucasChristian P Schaaf

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