“Set in Stone” or “Ray of Hope”: Parents’ Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD
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Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents’ beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child’s CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result. However, parents’ expectations for the future tended to differ depending on results; those who received genetic confirmation for their children’s ASD expressed a sense of concreteness, acceptance and permanence of the condition. Some parents expressed hope for future biomedical treatments as a result of genetic research.
KeywordsAutism spectrum disorders Chromosomal microarray analysis Genomic testing Parental expectations Causation beliefs Genetic determinism
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.
MR conceived of the study, participated in the design and coordination, and drafted the manuscript; EB participated in the coordination of the study and assisted with qualitative data analysis and write-up; BB participated in the design of the study and write-up; EG participated in interviewing, qualitative data analysis and write-up; PS participated in research design and interpretation of the data; NS participated in design of the research, provided access to participants, and participated in scientific conceptualization for study, SM participated in data interpretation, scientific conceptualization and access to participants. All authors read and approved the final manuscript.
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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