Determining rates of genetic testing in the evaluation of autism spectrum disorder and intellectual and developmental disorder.
Most kids being evaluated for autism or IDD never get the genetic tests that could explain why.
01Research in Context
What this study did
The team looked at the kids and adults who got an autism or IDD work-up in one big U.S. clinic network.
They checked the charts to see who actually got the genetic tests that the guidelines say should happen.
What they found
Only 3 out of 10 patients got any genetic test at all.
Just 1 out of 10 got the full panel the guidelines call for.
Black kids and families on public insurance were even less likely to be tested.
How this fits with other research
Taşkıran et al. (2021) shows that when doctors do order whole-exome sequencing, it gives a clear answer about half the time.
That means the low numbers in Arcebido et al. (2025) are not because the tests don’t work — they’re because the tests aren’t being ordered.
Abouzeid et al. (2025) interviewed families and clinicians and found the same bottlenecks: long waits, poor hand-offs, and no one guiding families through the maze.
García-Zambrano et al. (2026) used national data in Colombia and also saw big gaps tied to income and region, matching the race and insurance gaps here.
Why it matters
If you work in an autism or IDD clinic, you can fix this gap today. Ask every new family if genetic testing was offered. If not, flag the chart and call the genetic counselor. One extra step can double the chance a child gets a clear diagnosis and the right supports.
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02At a glance
03Original abstract
Genetic tests, such as Fragile X and Chromosomal Microarray, are recommended as a standard of care during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous research demonstrates low rates of genetic testing. This study aimed to identify the rates of genetic testing and patient demographic factors that may be associated by conducting a retrospective chart review of 7539 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders within a university healthcare network. Researchers created a database that listed patient demographics (race, gender, insurance, zip code), records of ordered but not completed tests, genetic test results and reasons for declining genetic tests (if noted), and other known barriers to genetic testing. Statistical analyses were conducted to determine associations between genetic testing rates and sociodemographic factors. 30.57% of patients received at least one indicated genetic test, while 11.31% received recommended concordant genetic testing. Findings suggest that while gender did not impact whether a patient received at least one genetic test, race and insurance did. Our review demonstrates that genetic testing is not sufficiently offered by physicians, and there are multiple barriers preventing patients from receiving genetic testing, which must be further investigated.Lay abstractGenetic testing is recommended by various professional organizations as part of clinical guidelines during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous studies demonstrate that rates of genetic testing are low. This study aimed to identify the rates of genetic testing within a large university healthcare network and factors that may be associated with higher or lower rates. Researchers reviewed over 7500 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders. Some factors that were recorded include patient demographics (race, gender, insurance, zip code), ordered but not completed tests, genetic test results and reasons for declining genetic tests if noted, and other known barriers to genetic testing such as blood draws and specialties of providers seen by patients. Statistical analysis was conducted to determine associations between rates of genetic testing and different factors recorded in our database. Our results demonstrate that less than half of patients received at least one indicated genetic test, while a smaller percentage received recommended genetic tests. While sex assigned at birth and gender did not impact whether a patient received at least one indicated genetic test, race and insurance did. Our review reveals that genetic testing is not sufficiently offered by physicians, and we have identified multiple obstacles that prevent patients from receiving genetic testing which must be further investigated.
Autism : the international journal of research and practice, 2025 · doi:10.1177/13623613241289980