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

Alyson E. Hanish, Marlene Z. Cohen, Lois J Starr

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Purpose: 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. Design and Methods: 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. Results: 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. Practice Implications: Various stakeholders (geneticists, primary care providers, nurses, and families) would benefit from future establishment of educational strategies to inform parental decision-making regarding genetic testing for children with ASD.

Original languageEnglish (US)
Article numbere12211
JournalJournal for Specialists in Pediatric Nursing
Issue number2
StatePublished - Apr 2018


  • autism spectrum disorder
  • chromosomal microarray
  • decision-making
  • education
  • genetic testing

ASJC Scopus subject areas

  • Pediatrics


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