Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD)

Michael L. Cuccaro, Kayla Czape, Michael Alessandri, Joycelyn Lee, Abigail Rupchock Deppen, Elise Bendik, Nicole Dueker, Laura Nations, Margaret Pericak-Vance, Susan Hahn

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


The purpose of this study was to assess use of genetic testing and corresponding genetic services for children with Autism Spectrum Disorder (ASD). Survey data from 397 parents of individuals with ASD was collected using the Center for Autism and Related Disabilities client registry. Participants reported that 41.2% of the individuals with ASD had undergone any type of genetic testing. However, only 21.3% of individuals with ASD had been referred to a genetics specialist. Diagnosis and level of functioning were significantly associated with both referral to a genetics specialist and having undergone any genetic testing. In addition, Hispanic ancestry was associated with increased referral to genetic testing. Concerns about the limited benefits of genetic testing and prohibitive costs were potential barriers to pursuing genetic testing. Overall, low numbers of individuals with ASD have a history of undergoing genetic testing or receiving genetic services. Possible reasons include low referral rates as well as concerns by parents about cost and relevance, and lack of availability. These findings confirm the historical trend for providing genetic testing and genetic services to those with the greatest impairments.

Original languageEnglish (US)
Pages (from-to)2592-2600
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Issue number10
StatePublished - Oct 2014


  • Autism spectrum disorder
  • Genetic testing
  • Parental attitudes
  • Survey research

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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