Author ORCID Identifier

https://orcid.org/0000-0001-9857-7438

Date of Graduation

5-2018

Document Type

Thesis (MS)

Program Affiliation

Biochemistry and Molecular Biology

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Sarah Noblin

Committee Member

Victoria Wagner

Committee Member

Pedro Mancias

Committee Member

Laura Farach

Committee Member

Syed Hashmi

Committee Member

Jessica Davis

Abstract

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.

Keywords

genetic counseling, neurology, genetics, genetic testing utilization, neurogenetics, pediatric neurology

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