Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

Abstract

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.

Can genetic research motivate parents to pursue genomic testing for children with autism spectrum disorder?

“…Most significantly, parental intention toward CMA genetic testing of their children within this study was associated with the prospect of contributing to research. This highlights that this factor, which has been consistently described in qualitative studies on parent perception about CMA could indeed be predictive of test intention [21,[41][42][43]. The finding that increase in intention to test is associated with desire to support research corroborates existing data with similar findings from quantitative studies about genetic testing intention [33][34][35].…”

“…Data from this study partly supports statements made by parents of children with ASD in previous exploratory studies about CMA [21,41]. Intention increased with belief that genetic testing could advance ASD research, as was brought up by parents in existing studies [21,[41][42][43].…”

“…Intention also increases with belief that assisting these efforts would improve their ASD child's "quality of life. " It was hoped that research would offer their child additional support at some future point by parents that Reiff et al, [41] interviewed. However, negative attitudes about genetic testing for ASD, such as that testing outcomes would not be personally helpful, was challenged by lack of significance of this response item [42,43].…”

“…Recently, several qualitative studies have been conducted to measure parents' intention in receiving genetic testing for ASD, two of which were hypothetical studies focused on CMA [21,[41][42][43]. Each has included parents' responses that suggest an interest in testing based on an acknowledgement of its use in ASD genetic research and desire to help advance these efforts.…”

Chromosomal Microarray Genetic Testing – A Qualitative Investigation among Parents of Children with Autism Spectrum Disorders in Rural North Carolina

“…While previous research has found that although the majority parents of children with ASD demonstrated favorable attitudes toward autism genetic testing, perceived consequences such as genetic discrimination, incurred costs, and apprehension surrounding the results might lead to a decline to testing [10][11][12][13][14][15]. We conducted a systematic literature review on emotional factors and autism genetic testing and found that none of the seventeen included articles had explored how emotional factors might affect parents' decisions on taking their children to undergo CMA genetic testing [16].…”