Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions

• DOI: 10.1177/0883073818821036
• Publication Date: 2019-01-04T11:29:40Z
• Authors: Sara Wofford; Sarah Noblin; Jessica M Davis; Laura S Farach; S Shahrukh Hashmi; Pedro Mancias; Victoria F Wagner
• Keywords: Medical genetics; Genetic diagnosis

Identifying genetic diagnoses for neurologic conditions with a considerable hereditary component, such as autism spectrum disorder, intellectual disability, and epilepsy, is critical to providing proper medical management patients their families. However, many these are not tested appropriately or receive no testing at all. The current study was designed characterize the practices of providers most likely evaluate order patients: pediatric neurologists, geneticists, counselors. Significant variance present between strategies selected by neurologists those geneticists counselors, supporting need updated guidelines that consistent across specialties. Pediatric also report lower confidence in ordering desire further education regarding testing. Together, results propose continued integration genetics providers, into neurology clinics may improve utilization while reducing burden on neurologists.