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

J Autism Dev Disord. 2019 Feb;49(2):794-808. doi: 10.1007/s10803-018-3738-z.


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; Chromosomal microarray; Genetics; Primary care provider.

MeSH terms

  • Autism Spectrum Disorder / diagnosis
  • Autism Spectrum Disorder / genetics*
  • Child
  • Female
  • Genetic Testing / standards*
  • Genetic Testing / statistics & numerical data
  • Guideline Adherence
  • Health Knowledge, Attitudes, Practice*
  • Humans
  • Male
  • Pediatricians / psychology*
  • Surveys and Questionnaires
  • Utah