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

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

genetic testing neurogenetics autism fragile X

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References

Cohen

Pichard

Tordjman

. Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord. 2005;35(1):103–116.

DiGuiseppi

Hepburn

Davis

. Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test characteristics. J Dev Behav Pediatr. 2010;31(3):181–191.

Hall

Lightbody

Reiss

. Compulsive, self-injurious, and autistic behavior in children and adolescents with fragile X syndrome. Am J Ment Retard. 2008;113(1):44–53.

Zecavati

Spence

. Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep. 2009;9(2):129–136.

Zack

Kobau

. National and state estimates of the numbers of adults and children with active epilepsy—United States, 2015. MMWR Morb Mortal Wkly Rep. 2017;66(31):821–825.

Scheffer

. Genetic testing in epilepsy: what should you be doing? Epilepsy Curr. 2011;11(4):107–111.

Kaufman

Ayub

Vincent

. The genetic basis of non-syndromic intellectual disability: a review. J Neurodev Disord. 2010;2(4):182–209.

Kidd

Lachiewicz

Barbouth

. Fragile X syndrome: a review of associated medical problems. Pediatrics. 2014;134(5):995–1005.

Tchaconas

Adesman

. Diagnostic evaluation of children with autism spectrum disorders: clinician compliance with published guidelines. J Dev Behav Pediatr. 2017;38(1):29–38.

10.

Schaefer

Mendelsohn

; Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013;15(5):399–407.

11.

Monaghan

Lyon

Spector

; American College of Medical G and Genomics. ACMG Standards and Guidelines for Fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med. 2013;15(7):575–586.

12.

Moeschler

Shevell

; Committee on G. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134(3):e903–e918.

13.

Filipek

Accardo

Ashwal

. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology. 2000;55(4):468–479.

14.

Rossi

El-Khechen

Black

Farwell Hagman

Tang

Powis

. Outcomes of diagnostic exome sequencing in patients with diagnosed or suspected autism spectrum disorders. Pediatr Neurol. 2017;70:34–43.e2.

15.

Farwell

Shahmirzadi

El-Khechen

. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17(7):578–586.

16.

Salm

Abbate

Appelbaum

. Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training. J Genet Couns. 2014;23(2):156–163.