Determining rates of genetic testing in the evaluation of autism spectrum disorder and intellectual and developmental disorder

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.