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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

Abstract

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.

Keywords

Autism spectrum disorder Genetics Chromosomal microarray Primary care provider 

Notes

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.

Funding

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.

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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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