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

Abstract

Purpose: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. Methods: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.Results: 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. Conclusion: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. Genet Med 2013:15(4):274-281

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

“…The intention of parents within our study to have their children receive testing was found relatively high at 84.3%, which suggests that majority of participants are likely to consider having their ASD-affected child undergo CMA. This number is consistent with existing findings about the level of parent interest toward ASD genetic testing [12,13,21,22,42]. For instance, Vande Wydeven et al [24] found parental interest in utilizing genetic services at 90%.…”

“…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].…”

“…When the phenotype of autism is diagnosed and is ruled to likely have an uncertain cause, genetic testing can be advised by a healthcare professional, typically the patient's pediatrician or a medical geneticist [8,10]. Concerning the levels of parent interest, studies have consistently found that supportive attitudes to pursue genetic testing are high [19][20][21][22]. Despite positive perceptions as well as the potentially beneficial outcomes of a genetic diagnosis, actual utilization of CMA among other genetic testing options are reported as being low among parents of children with ASD [13,[22][23][24][25].…”

“…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.…”