Genetic testing for children with autism and intellectual disabilities remains rare in Medicaid, despite guidelines

A new national study reveals that most Medicaid-enrolled children with autism spectrum disorder (ASD) or intellectual disability (ID) are not receiving recommended genetic testing despite clinical guidelines urging its use. The study appears in the journal Genetics in Medicine.

Researchers led by Tashalee Brown, MD, Ph.D., a post-doctoral fellow in the UCLA National Clinician Scholars Program and researcher at the Semel Institute for Neuroscience and Human Behavior at UCLA, in collaboration with colleagues at Drexel University, analyzed claims data from over 240,000 children aged 7 to 17 enrolled in Medicaid or the Children’s Health Insurance Program (CHIP) from 2008 to 2016. While testing rates were highest among children diagnosed with both ASD and ID (26%), rates remained surprisingly low overall—just 17% for children with ASD alone, and 13% for those with ID only.

“Genetic testing can offer valuable insights for diagnosis and care planning,” said Dr. Brown, the study’s lead author. “But our findings show a major gap between what’s recommended and what’s actually happening in clinical practice among children who receive health insurance through Medicaid.”

The study also uncovered significant racial disparities: Black children across all diagnostic groups were less likely to receive genetic testing than their non-Hispanic white peers.

“Diagnosing children with neurodevelopmental conditions like autism and intellectual disability can be a lengthy and frustrating process for families,” said Julian Martinez, MD, Ph.D., associate professor of human genetics and director of the Autism Genetics Clinic at UCLA who co-led the study.

“Genetic testing provides crucial information that can end this search for many families, potentially identifying specific diagnoses, informing treatment approaches, and connecting families with appropriate support services. These findings highlight the urgent need to address systemic barriers that prevent equitable access to these recommended diagnostic tools.”

Even as newer genetic testing methods like gene panels gained traction after 2013, the overall uptake stayed limited. The study highlights the need for Medicaid policy changes and increased provider education to bridge the gap between guidelines and care.

“Our work underscores a timely opportunity to improve access to genetic testing in Medicaid,” the researchers said. “Removing barriers could help unlock crucial diagnoses for thousands of children with neurodevelopmental disabilities.”

A new national study reveals that most Medicaid-enrolled children with autism spectrum disorder (ASD) or intellectual disability (ID) are not receiving recommended genetic testing despite clinical guidelines urging its use. The study appears in the journal Genetics in Medicine.

Researchers led by Tashalee Brown, MD, Ph.D., a post-doctoral fellow in the UCLA National Clinician Scholars Program and researcher at the Semel Institute for Neuroscience and Human Behavior at UCLA, in collaboration with colleagues at Drexel University, analyzed claims data from over 240,000 children aged 7 to 17 enrolled in Medicaid or the Children’s Health Insurance Program (CHIP) from 2008 to 2016. While testing rates were highest among children diagnosed with both ASD and ID (26%), rates remained surprisingly low overall—just 17% for children with ASD alone, and 13% for those with ID only.

“Genetic testing can offer valuable insights for diagnosis and care planning,” said Dr. Brown, the study’s lead author. “But our findings show a major gap between what’s recommended and what’s actually happening in clinical practice among children who receive health insurance through Medicaid.”

The study also uncovered significant racial disparities: Black children across all diagnostic groups were less likely to receive genetic testing than their non-Hispanic white peers.

“Diagnosing children with neurodevelopmental conditions like autism and intellectual disability can be a lengthy and frustrating process for families,” said Julian Martinez, MD, Ph.D., associate professor of human genetics and director of the Autism Genetics Clinic at UCLA who co-led the study.

“Genetic testing provides crucial information that can end this search for many families, potentially identifying specific diagnoses, informing treatment approaches, and connecting families with appropriate support services. These findings highlight the urgent need to address systemic barriers that prevent equitable access to these recommended diagnostic tools.”

Even as newer genetic testing methods like gene panels gained traction after 2013, the overall uptake stayed limited. The study highlights the need for Medicaid policy changes and increased provider education to bridge the gap between guidelines and care.

“Our work underscores a timely opportunity to improve access to genetic testing in Medicaid,” the researchers said. “Removing barriers could help unlock crucial diagnoses for thousands of children with neurodevelopmental disabilities.”