Limited Use of Genetic Testing for Children with Autism and Intellectual Disabilities in Medicaid Despite Guidelines

A recent nationwide study highlights a significant gap between recommended clinical guidelines and real-world practice regarding genetic testing for children with autism spectrum disorder (ASD) and intellectual disability (ID) enrolled in Medicaid. Although guidelines emphasize the importance of genetic testing to aid diagnosis and inform treatment, the uptake remains surprisingly low. The research, led by Dr. Tashalee Brown from UCLA in collaboration with Drexel University, analyzed claims data from over 240,000 children aged 7 to 17 covered by Medicaid and CHIP between 2008 and 2016.

The findings revealed that children diagnosed with both ASD and ID had the highest testing rate at only 26%. Those with ASD alone had a testing rate of 17%, while children with ID only had just 13%. This indicates that many children who could benefit from genetic insights are not receiving these diagnostic tools, despite their proven clinical value. Dr. Brown emphasized that genetic testing can be instrumental in providing clearer diagnoses, guiding personalized treatments, and connecting families to supportive services.

The study also uncovered racial disparities: Black children across all diagnostic groups were less likely to undergo genetic testing compared to their non-Hispanic white peers, highlighting ongoing equity concerns in healthcare access. Julian Martinez, MD, Ph.D., involved in the study, pointed out that diagnosing autism and ID can be a lengthy and challenging process for families, and genetic testing offers a potential shortcut to crucial diagnoses.

While advances in genetic testing methods, such as gene panels, have increased since 2013, overall adoption remains limited within Medicaid populations. The researchers advocate for policy reforms and enhanced healthcare provider education to bridge this gap. Addressing systemic barriers could significantly improve access, allowing more children to benefit from precision diagnostics. Ultimately, increasing the availability and utilization of genetic testing in Medicaid could lead to earlier and more accurate diagnoses, better tailored interventions, and improved outcomes for children with neurodevelopmental disabilities.

Source: https://medicalxpress.com/news/2025-06-genetic-children-autism-intellectual-disabilities.html