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J Child Neurol. 2019 Jan 4:883073818821036. doi: 10.1177/0883073818821036. [Epub ahead of print]

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

Author information

1
1 Clinical Cancer Genetics Program, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
2
2 Genetic Counseling Program, University of Texas MD Anderson Cancer Center, UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.
3
3 Division of Genetic Counseling, Department of Obstetrics, Gynecology & Reproductive Sciences, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
4
4 Greenwood Genetic Center, Greenwood, SC, USA.
5
5 Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
6
6 Pediatric Research Center, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
7
7 Division of Child and Adolescent Neurology, Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA.

Abstract

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 for 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. Significant variance was present between testing strategies selected by pediatric neurologists and those by geneticists and genetic counselors, supporting the need for updated genetic testing guidelines that are consistent across specialties. Pediatric neurologists also report lower confidence in ordering genetic testing and desire further education regarding genetic testing. Together, these results propose that continued integration of genetics providers, such as genetic counselors, into pediatric neurology clinics may improve utilization of genetic testing while reducing the burden on pediatric neurologists.

KEYWORDS:

autism; fragile X; genetic testing; neurogenetics

PMID:
30608006
DOI:
10.1177/0883073818821036

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