Autism genetic testing: A qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders

Department of Health and Kinesiology, Texas A&M University, College Station, Texas, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 7.33). 01/2013; 15(4). DOI: 10.1038/gim.2012.145
Source: PubMed


The goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children regarding autism genetic testing.

We conducted in-depth, individual, and semistructured interviews with 42 parents of autistic children with diverse racial/ethnic backgrounds. All interviews were audio-taped, transcribed, and coded into major themes and subthemes.

Approximately one-quarter of participants had two or more autistic children, and about half of them were ethnic/racial minorities. The majority of participants postulated favorable attitudes toward autism genetic testing for three main reasons: early intervention and treatment, identifying the etiology of autism, and informed family planning. Nevertheless, among parents who had taken their children for genetic testing, some expressed frustration and questioned the competency of their providers in interpreting test results. Asian parents and those with a low socioeconomic status expressed lower awareness and tended to have more limited access to autism genetic testing.

As health-care providers play a vital role in providing genetic services and education, these professionals should be educated and be sensitive to the needs of parents with autistic children. Further quantitative research is required to examine the effects of socio-demographic factors on parents' awareness, attitudes, and experiences regarding autism genetic testing.

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    • "Trottier et al. (2013) have reported that participants in genetic research on ASD value receiving genetic testing results because they can alleviate guilt, promote awareness, and may be used to tailor interventions and for family planning. While studies have been conducted on motivations for testing (Chen et al. 2013), experiences with ASD genetic research (Trottier et al. 2013), utilization of genetic testing (Cuccaro et al. 2014), and hypothetical scenarios (Turbitt et al. 2014), this study is the first to our knowledge to explore how parents use information from actual clinical genomic testing of children with ASD. "
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    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.
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    • "We cannot exclude that the results from the US sample reflect unavailability of genetic testing for older patients. However, the percentage of US families reporting genetic testing in our survey is similar to that found in two recent studies based on a direct interview (50) and an anonymous survey (49). Finally, possible biases due to local variation of accessibility to genetic testing cannot be adjusted in such an internet survey as far as anonymity prevented collection of participant’s addresses. "
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    ABSTRACT: Background: There are many societal and cultural differences between healthcare systems and the use of genetic testing in the US and France. These differences may affect the diagnostic process for autism spectrum disorder (ASD) in each country and influence parental opinions regarding the use of genetic screening tools for ASD. Methods: Using an internet-based tool, a survey of parents with at least one child with ASD was conducted. A total of 162 participants from the US completed an English version of the survey and 469 participants from France completed a French version of the survey. Respondents were mainly females (90%) and biological parents (94.3% in the US and 97.2% in France). Results: The mean age of ASD diagnosis reported was not significantly different between France (57.5 ± 38.4 months) and the US (56.5 ± 52.7 months) (p = 0.82) despite significant difference in the average age at which a difference in development was first suspected [29.7 months (±28.4) vs. 21.4 months (±18.1), respectively, p = 7 × 10−4]. Only 27.8% of US participants indicated that their child diagnosed with ASD had undergone diagnostic genetic testing, whereas 61.7% of the French participants indicated this was the case (p = 2.7 × 10−12). In both countries, the majority of respondents (69.3% and 80% from France and the US, respectively) indicated high interest in the use of a genetic screening test for autism. Conclusion: Parents from France and the US report a persistent delay between the initial suspicion of a difference in development and the diagnosis of ASD. Significantly fewer US participants underwent genetic testing although this result should be regarded as exploratory given the limitations. The significance of these between country differences will be discussed.
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    • "Calder et al. (2013) examined the nature of children with autism's Autism 18(2) perspective on friendships using a mixed qualitative/ quantitative model. Additional favorites published in other journals are Smith and Sharp (2013) on the impact of sensory experiences on adults with high-functioning autism spectrum disorder, and Chen et al. (2013) and Gray (2006) on parents' attitudes and experiences regarding genetic testing, and coping with autism over time, respectively . Such studies give important information to teachers and service providers, new leads for quantitative studies, new perspectives on ethical implications, and perhaps enhanced societal awareness. "

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