Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder.
Most pediatricians skip genetic testing for kids with autism because they do not know the rules and hate the wait lists.
01Research in Context
What this study did
Rutz et al. (2019) sent a short survey to every pediatrician in Utah. They asked who orders genetic tests for kids with autism and what gets in the way.
The doctors picked from a list of barriers and rated their own knowledge of the testing rules.
What they found
Over half the doctors said they did not know the current genetic testing guidelines.
The top roadblocks were long wait lists and insurance red tape, not cost of the test itself.
How this fits with other research
Zhao et al. (2024) asked parents the same question from the other side. Two-thirds of US parents said no doctor ever mentioned genetic testing to them. The two surveys line up: if doctors lack knowledge, they stay quiet, so parents never hear about it.
Arcebido et al. (2025) checked real medical charts and found only three in ten kids with autism got any genetic test. That hard number backs up the doctors' self-report that they rarely order the tests.
Marsack-Topolewski et al. (2025) added a twist: most parents want online lessons about genetic testing. The gap is not lack of parent interest—it is lack of doctor action.
Why it matters
If you serve kids with autism, expect that genetic testing may not have happened. You can prompt the pediatrician, share parent-friendly handouts, or add a genetic counselor to your team huddle. Closing this simple referral gap can speed up medical answers for families.
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02At a glance
03Original abstract
Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and many held beliefs about genetic evaluation that did not align with guidelines. Barriers were lack of insurance coverage for genetic evaluation/testing and long wait times to see geneticists. Pediatricians with beliefs aligned with guidelines and those aware of the role of genetic counselors were more likely to adhere to guidelines. Efforts to educate pediatricians are needed along with system level solutions regarding availability of geneticists and reimbursement for genetic testing.
Journal of autism and developmental disorders, 2019 · doi:10.1007/s10803-018-3738-z