Determining rates of genetic testing in the evaluation of autism spectrum disorder and intellectual and developmental disorder
Authors: Arcebido Kyla , Tuliao Emily Val , Ibarra Andryella Maxie , Russell Kai , Valdes Aracelly , Shinkre Sohum , Gefen Samantha , Evans Amelia , Barella Sabrina , Wadei Joelle , Quinon Isabella , Soda Takahiro 
Published: January 2025

Genetic tests, such as Fragile X and Chromosomal Microarray, are recommended as a standard of care during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous research demonstrates low rates of genetic testing. This study aimed to identify the rates of genetic testing and patient demographic factors that may be associated by conducting a retrospective chart review of 7539 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders within a university healthcare network. Researchers created a database that listed patient demographics (race, gender, insurance, zip code), records of ordered but not completed tests, genetic test results and reasons for declining genetic tests (if noted), and other known barriers to genetic testing. Statistical analyses were conducted to determine associations between genetic testing rates and sociodemographic factors. 30.57% of patients received at least one indicated genetic test, while 11.31% received recommended concordant genetic testing. Findings suggest that while gender did not impact whether a patient received at least one genetic test, race and insurance did. Our review demonstrates that genetic testing is not sufficiently offered by physicians, and there are multiple barriers preventing patients from receiving genetic testing, which must be further investigated.

Lay abstract

Genetic testing is recommended by various professional organizations as part of clinical guidelines during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous studies demonstrate that rates of genetic testing are low. This study aimed to identify the rates of genetic testing within a large university healthcare network and factors that may be associated with higher or lower rates. Researchers reviewed over 7500 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders. Some factors that were recorded include patient demographics (race, gender, insurance, zip code), ordered but not completed tests, genetic test results and reasons for declining genetic tests if noted, and other known barriers to genetic testing such as blood draws and specialties of providers seen by patients. Statistical analysis was conducted to determine associations between rates of genetic testing and different factors recorded in our database. Our results demonstrate that less than half of patients received at least one indicated genetic test, while a smaller percentage received recommended genetic tests. While sex assigned at birth and gender did not impact whether a patient received at least one indicated genetic test, race and insurance did. Our review reveals that genetic testing is not sufficiently offered by physicians, and we have identified multiple obstacles that prevent patients from receiving genetic testing which must be further investigated.