Introduction
- In 2021, the American College of Medical Genetics and Genomics published clinical guidelines which recommended that genome sequencing (GS) and exome sequencing (ES) should be considered as first-tier tests for children with intellectual disability and developmental delay (ID/DD).
- Compared to ES or other traditional testing approaches, GS enables a more comprehensive analysis of multiple variant types within a single test, allowing for higher diagnostic yields.
- More recently, health insurance policies, including Texas Medicaid, have started to include coverage of GS for specific clinical indications such as ID/DD.
- The objective of this research is to examine patterns in the utilization of GS for children with ID/DD, including age at testing, prior genetic testing history, and diagnostic yield, following the implementation of GS coverage through Texas Medicaid policy.
