2025-06-23 カリフォルニア大学ロサンゼルス校 (UCLA)
<関連情報>
- https://newsroom.ucla.edu/stories/genetic-testing-for-children-with-autism-and-intellectual-disabilities-remains-rare-in-medicaid-despite-national-guidelines
- https://www.sciencedirect.com/science/article/pii/S109836002500098X
2008年から2016年までのメディケイド請求によると、知的障害と自閉症スペクトラム障害の子どもたちの遺伝子検査実施率は低い Medicaid claims from 2008 to 2016 indicate low rates of genetic testing among children with intellectual disability and autism spectrum disorder
Tashalee R. Brown, Wei-Lin Lee, Jonas Ventimiglia, Audrey Thurm, Tess Levy, Victoria Yuan, Julian A. Martinez-Agosto, Lindsay L. Shea
Genetics in Medicine Available online: 18 June 2025
DOI:https://doi.org/10.1016/j.gim.2025.101451
Graphical abstract
Abstract
Purpose
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.
Methods
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.
Results
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.
Conclusion
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.
