Parental experiences and perspectives of healthcare providers' genetic testing recommendations for their children diagnosed with autism spectrum disorder in the United States.
Two-thirds of US parents of kids with ASD report never hearing a genetic testing recommendation from any provider.
01Research in Context
What this study did
Zhao et al. (2024) asked US parents if any doctor ever suggested genetic testing for their child with autism. They used an online survey to collect answers from families across the country.
The team wanted to know how many parents heard the advice and what made some follow through while others did not.
What they found
Only one in three parents remembered getting a genetic testing recommendation. Among those who did, most went ahead with the test.
Parents who talked with genetic counselors or had higher incomes were more likely to complete testing.
How this fits with other research
Arcebido et al. (2025) looked at medical records instead of parent memory and found almost the same low rate: only 30% of kids got any genetic test. This match shows the gap is real, not just forgetfulness.
Marsack-Topolewski et al. (2025) surveyed the same parent group and learned 73% want online lessons about testing. Together the papers reveal a cycle: doctors rarely mention the test, so parents turn to the internet for answers.
Rutz et al. (2019) asked Utah pediatricians why they skip the recommendation. Over half said they lack clear guidelines and worry about insurance. Their answers echo the parent report: system barriers keep the number low.
Why it matters
If you write treatment plans or attend diagnosis meetings, check whether genetic testing was offered. A simple prompt like “Has genetics been discussed?” can open the door for families who never heard the option. Share the free web resources Marsack-Topolewski et al. (2025) identified so parents learn facts instead of fear. Closing this gap starts with a one-minute conversation.
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02At a glance
03Original abstract
Although genetic testing is recommended for all children diagnosed with autism spectrum disorder (ASD) in the United States, it remains unclear how many parents have received and followed these recommendations. This study aimed to assess parental experiences and perspectives of healthcare providers' genetic testing recommendations. A total of 1043 parents of children with ASD from Simons Foundation Powering Autism Research for Knowledge completed an online survey. Only about one-third of the parents (34.2%) reported that their children's providers had recommended genetic testing. Factors associated with whether parents received these recommendations included the type of healthcare providers diagnosing ASD, parents' knowledge of genetic testing, the age of their children's diagnosis, and the presence of certain co-occurring medical conditions in their children. Our study also revealed that most parents (76.9%) who received recommendations had pursued genetic testing for their children. Adherence to the recommendations was associated with the characteristics of the parents (i.e., age and employment status) and children (i.e., gender), and their trust in the information from providers. The findings highlight the critical role of healthcare providers in facilitating genetic testing among families of children with ASD. Healthcare providers are recommended to increase their competencies and practice in providing genetic testing recommendations for ASD, assist parents in navigating testing challenges, and support parents through the testing process.
Autism research : official journal of the International Society for Autism Research, 2024 · doi:10.1002/aur.3262