Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders
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Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test’s perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents participated in a semi-structured telephone interview, and 50 also completed a survey. Most parents reported that CMA was helpful for their child and family. Major themes regarding perceived usefulness were: medical care, educational and behavioral interventions, causal explanation, information for family members, and advancing knowledge. Limits to utility, uncertainties and negative outcomes were also identified. Our findings highlight the importance of considering both health and non-health related utility in genomic testing.
KeywordsAutism spectrum disorders Chromosomal microarray analysis Genomic testing Qualitative Perceived utility Parent perspectives
The authors wish to thank Rena Vanzo of Lineagen Inc. for assistance with recruitment, and all the parents for their participation in the study. This research was supported by a Grant from the National Human Genome Research Institute of the National Institutes of Health. Preliminary results for this paper were presented at the American College of Medical Genetics Annual Meeting, New Orleans (2014).
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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