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Autism spectrum disorder and genetic testing: Parental perceptions and decision‐making
Author(s) -
Hanish Alyson E.,
Cohen Marlene Z.,
Starr Lois J.
Publication year - 2018
Publication title -
journal for specialists in pediatric nursing
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.499
H-Index - 38
eISSN - 1744-6155
pISSN - 1539-0136
DOI - 10.1111/jspn.12211
Subject(s) - genetic testing , autism , autism spectrum disorder , medical genetics , genetic counseling , medicine , human genetics , perception , psychology , clinical psychology , qualitative research , medline , psychiatry , developmental psychology , family medicine , genetics , social science , neuroscience , biology , sociology , gene , political science , law
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.