Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group


Recent discoveries have improved our understanding of the complex genetic mechanisms underlying autism spectrum disorder (ASD). Despite current guidelines, genetic testing for children with ASD is largely underutilized. This has been attributed to a lack of public awareness regarding genetic testing. The role that autism support groups play in this awareness has not been previously described. A web-based survey was developed and distributed through a community support group to assess the awareness and utilization of genetic testing among caregivers for children with ASD. A total of 138 caregivers responded in total. Only 53.6% were aware that genetic testing exists for ASD. Genetic testing was completed in 17.4% of respondents. Rates of awareness were similar across demographic factors including race, family income, education level, and urban, suburban, or rural residence. This supports low awareness as a key factor in the underutilization of genetic testing for ASD, even among members in an organized autism support group. Targeting public awareness through these organizations may be a promising approach for improving the utilization of genetic testing in ASD.

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The authors wish to acknowledge Amy Helgeson, Field Development–Executive Director of Autism Speaks Illinois and Wisconsin, who facilitated the dissemination of the survey and the caregivers of the Autism Speaks support group who participated in our survey.

Author information




Aaron Zebolsky contributed to the conceptualization, investigation, and initial draft of this manuscript. Data analysis was carried out by Duncan Vos. Neelkamal Soares contributed to the methodology, resources, and supervision of the project. All authors were involved in editing the manuscript and approved of the final draft.

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Correspondence to Aaron Zebolsky.

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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

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The authors declare that they have no conflict of interest.

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Zebolsky, A., Vos, D. & Soares, N. Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group. J Community Genet (2020).

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  • Autism spectrum disorder
  • Support group
  • Awareness
  • Community
  • Genetic testing