Author ORCID Identifier
Date of Graduation
Biochemistry and Molecular Biology
Masters of Science (MS)
Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. The study noted significant variance between the testing strategies selected by pediatric neurologists compared to those of geneticists and genetic counselors and supports the need for updated guidelines that are consistent across specialties. Pediatric neurologists report lower confidence with ordering genetic testing and a need and desire for further education regarding genetic testing. This study proposes that the continued integration of genetic counselors into pediatric neurology clinics may improve utilization of genetic testing while reducing the burden on neurologists.
genetic counseling, neurology, genetics, genetic testing utilization, neurogenetics, pediatric neurology