Pursuing genetic testing for children with autism spectrum disorders: What do parents think?

Abstract

The American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the American Academy of Neurology recommend genetic testing, as a genetic evaluation tool, for children diagnosed with autism spectrum disorders (ASD). Despite the potential benefits, the utilization of genetic testing is low. We proposed an integrated theoretical framework to examine parents’ intention and associated psychosocial factors in pursuing genetic testing for their children with ASD. Recruiting primarily from the Interactive Autism Network, a nationwide sample of 411 parents of children with ASD who had never pursued genetic testing for their children completed our theory‐based online survey. Data were analyzed using structural equation modeling. About half of the parents were willing to pursue genetic testing for their children with ASD. Findings of the structural equation modeling suggested a good model fit between our integrated theoretical framework and survey data. Parents’ intention was significantly and positively associated with their attitudes toward genetic testing, subjective norm, and self‐efficacy in having their children tested. This study serves as an initial window to understand parental intention to pursue genetic testing for their children with ASD. Our findings can help physicians and genetic counselors understand, educate, counsel, and support parents’ decision‐making about having their children with ASD genetically tested. Furthermore, our study can also assist physicians and genetic counselors in developing theory‐ and evidence‐based patient education materials to enhance genetic testing knowledge among parents of children with ASD.

Knowledge and Attitudes toward Genetic Testing for Autism Spectrum Disorders among Parents of Affected Children in Taiwan

“…The results of this study suggest that parents of children with ASD in Taiwan generally hold favorable attitudes toward genetic testing for ASD, but they showed deficient knowledge of such testing. This finding is consistent with previous studies exploring parents’ attitudes and knowledge toward ASD genetic testing in the United States and Europe [ 27 , 28 , 29 , 30 , 31 ].…”

“…Furthermore, similar to other survey research, we were unable to obtain a 100% response rate and study the entire target population [ 54 ]. Thus, the findings of this study may not be generalized to all Taiwanese parents of children with ASD as a lack of generalizability is the most common limitation for survey studies [ 27 , 30 , 49 ]. Second, although the present study examined many sociodemographic characteristics’ associations with parental attitudes and knowledge of ASD genetic testing, other factors (e.g., culture, social norms, as well as perceived benefits and barriers) may still need to be explored to gain a more comprehensive picture of parents’ perspectives.…”

“…Research has shown that parents’ intention to pursue genetic testing for their children is significantly associated with their knowledge of ASD genetic testing and their attitudes toward ASD genetic testing [ 27 ]. However, previous studies conducted in the United States and Europe have demonstrated that although parents of children with ASD generally hold favorable attitudes toward genetic testing for ASD, they have deficient knowledge and awareness of such testing [ 27 , 28 , 29 , 30 , 31 ]. Furthermore, many parents of children with ASD may have unrealistic expectations, misperceptions, or misinformation regarding genetic testing for ASD [ 32 , 33 ].…”

Attitudes toward Pursuing Genetic Testing among Parents of Children with Autism Spectrum Disorder in Taiwan: A Qualitative Investigation

“…It is important to note that despite the availability of ASD genetic testing in Taiwan, nearly 50% of the parents of children with ASD in our sample were unaware of the availability of genetic testing for their children. Such findings have also been observed in other studies [ 17 , 18 , 36 , 37 ]. For example, Chen et al, [ 17 ] interviewed 42 Texas parents of children with ASD, and found that 63% of those parents had never heard of ASD genetic testing.…”

“…Understanding Taiwanese parental awareness and perceptions about genetic testing is crucial. Consistent with past research [ 17 , 18 , 36 , 37 ], this first-of-its-kind study (to the best of our knowledge) found that nearly half of the participants were unaware that genetic testing was an option for their child with ASD, which highlights an area that both healthcare agencies and ASD advocacy groups in Taiwan should seek to remedy. With approximately three-quarters of the participants responding favorably to the idea of ASD genetic testing for their children with ASD, making parents of children with ASD more aware of the genetic testing options available to them is very important.…”