Journal of Autism and Developmental Disorders

, Volume 49, Issue 2, pp 794–808 | Cite as

Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder

  • Audrey Rutz
  • Karin M. Dent
  • Lorenzo D. Botto
  • Paul C. Young
  • Paul S. CarboneEmail author
Brief Report


Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and many held beliefs about genetic evaluation that did not align with guidelines. Barriers were lack of insurance coverage for genetic evaluation/testing and long wait times to see geneticists. Pediatricians with beliefs aligned with guidelines and those aware of the role of genetic counselors were more likely to adhere to guidelines. Efforts to educate pediatricians are needed along with system level solutions regarding availability of geneticists and reimbursement for genetic testing.


Autism spectrum disorder Genetics Chromosomal microarray Primary care provider 


Author Contributions

All authors contributed to the design of the study and were involved in creating the survey and writing the manuscript. AR and PSC collected the data. PSC analyzed the data.


This manuscript is based on an independent research project conducted by Ms. Rutz to fulfill the requirements of the University of Utah Graduate Program in Genetic Counseling (UUGPGC). Although no funding was required to conduct this research, the UUGPGC funded Ms. Rutz to present this project at the National Society of Genetic Counselor’s Annual Education Conference in 2016.

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no conflicts of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants in the study.


  1. AAP. (2012). Caring for children with autism spectrum disorders: A resourse toolkit for clinitians (2nd ed.). Elk Grove Village: American Academy of Pediatrics.Google Scholar
  2. APA. (2013). Diagnostic and statistical manual of mental disorders: DSM-5 (5th ed.). Washington, DC: APA.Google Scholar
  3. Barton, K. S., Tabor, H. K., Starks, H., Garrison, N. A., Laurino, M., & Burke, W. (2017). Pathways from autism spectrum disorder diagnosis to genetic testing. Genetics in Medicine. Scholar
  4. Coulter, M., Miller, D. T., Harris, D. J., et al. (2011). Chromosomal microarray testing influences medical management. Genetics in Medicine, 13(9), 770–776.CrossRefGoogle Scholar
  5. Cuccaro, M. L., Czape, K., Alessandri, M., Lee, J., Deppen, A. R., Bendik, E., et al. (2014). Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD). American Journal of Medical Genetics Part A, 164A(10), 2592–2600. Scholar
  6. Kiely, B., Vettam, S., & Adesman, A. (2016). Utilization of genetic testing among children with developmental disabilities in the United States. The Application of Clinical Genetics, 9, 93–100. Scholar
  7. Li, M., Amuta, A., Xu, L., Dhar, S. U., Talwar, D., Jung, E., et al. (2016). Autism genetic testing information needs among parents of affected children: A qualitative study. Patient Education and Counseling. Scholar
  8. Miles, J. H. (2011). Autism spectrum disorders—a genetics review. Genetics in Medicine, 13(4), 278–294. Scholar
  9. Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., et al. (2011). Recurrence risk for autism spectrum disorders: A baby siblings research consortium study. Pediatrics, 128(3), e488–e495, Scholar
  10. Peabody, J., DeMaria, L., Tamandong-LaChica, D., Florentino, J., Acelajado, M. C., & Burgon, T. (2015). Low rates of genetic testing in children with developmental delays, intellectual disability, and autism spectrum disorders. Global Pediatric Health. Scholar
  11. Saul, R. A., Trotter, T., Sease, K., & Tarini, B. (2017). Survey of family history taking and genetic testing in pediatric practice. The Journal of Community Genetics, 8(2), 109–115. Scholar
  12. Schaefer, G. B. (2016). Clinical genetic aspects of ASD spectrum disorders. International Journal of Molecular Sciences. Scholar
  13. Schaefer, G. B., Mendelsohn, N. J., Professional, P., & Guidelines, C. (2013). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genetics in Medicine, 15(5), 399–407. Scholar
  14. Selkirk, C. G., McCarthy Veach, P., Lian, F., Schimmenti, L., & LeRoy, B. S. (2009). Parents’ perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors. The Journal of Genetic Counseling, 18(5), 507–519. Scholar
  15. Shea, L., Newschaffer, C. J., Xie, M., Myers, S. M., & Mandell, D. S. (2014). Genetic testing and genetic counseling among Medicaid-enrolled children with autism spectrum disorder in 2001 and 2007. Human Genetics, 133(1), 111–116. Scholar
  16. Tchaconas, A., & Adesman, A. (2017). Diagnostic evaluation of children with autism spectrum disorders: Clinician compliance with published guidelines. Journal of Developmental and Behavioral Pediatrics, 38(1), 29–38. Scholar
  17. Wydeven, K., Kwan, A., Hardan, A. Y., & Bernstein, J. A. (2012). Underutilization of genetics services for autism: The importance of parental awareness and provider recommendation. The Journal of Genetic Counseling, 21(6), 803–813.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of PediatricsUniversity of UtahSalt Lake CityUSA

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