Publication date: Jun 11, 2025
Little is known nationally about the clinical implementation of existing genetic testing medical guidelines for children with autism spectrum disorder (ASD) and/or intellectual disability (ID) among those enrolled in Medicaid or Children’s Health Insurance Program plans. Children with diagnosis codes for ASD-only, ID-only, and ASD + ID were identified using established algorithms with 2008 to 2016 Medicaid claims data. The outcome measure is the cumulative proportion of individuals with genetic testing procedure codes. The cohort consisted of 241,060 children aged 7 to 17 years. The frequency of genetic testing was low across diagnoses, with ASD + ID showing the highest frequency of 25. 94%. The ASD + ID cohort had the highest odds of genetic testing (aOR = 29. 43 [95% CI 27. 57-31. 41]) compared with a random sample of children without ASD or ID. Cytogenetics and Fragile X testing were the predominant testing types used up to 2013, followed by increasing use of chromosomal microarray analysis and gene panels in 2014 to 2016. The results suggest that the clinical implementation of genetic testing in children with neurodevelopmental disabilities in the Medicaid-enrolled population was low in frequency compared with the eligible population with neurodevelopmental disorders. Further research could identify facilitators and barriers to the clinical use of genetic testing in this population.
Open Access PDF
| Concepts | Keywords |
|---|---|
| Autism | Autism spectrum disorder |
| Genetic | Clinical genetics |
| Medicaid | Genetic testing |
| Microarray | Intellectual disability |
| Medicaid |
Semantics
| Type | Source | Name |
|---|---|---|
| disease | MESH | intellectual disability |
| disease | MESH | autism spectrum disorder |
| disease | MESH | neurodevelopmental disorders |
| drug | DRUGBANK | Coenzyme M |
| disease | MESH | Autism |
| disease | MESH | etiology |
| disease | MESH | syndrome |
| disease | MESH | anomalies |
| disease | MESH | low socioeconomic status |
| disease | MESH | Chronic Conditions |
| drug | DRUGBANK | Methionine |
| pathway | REACTOME | Translation |
| disease | MESH | comorbidity |
| disease | MESH | genetic disorder |
| drug | DRUGBANK | Serine |
| disease | MESH | recurrence |
| disease | MESH | Birth Defects |
| drug | DRUGBANK | Medical air |
| disease | MESH | Learning Disabilities |
| disease | MESH | Mental Disorders |
| drug | DRUGBANK | Trestolone |
| disease | MESH | chromosomal abnormalities |
| disease | MESH | developmental disabilities |
| drug | DRUGBANK | Esomeprazole |
| disease | MESH | neurologic disorders |
| drug | DRUGBANK | Huperzine B |