Human Genetics

, Volume 133, Issue 1, pp 111–116 | Cite as

Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007

  • Lindsay SheaEmail author
  • Craig J. Newschaffer
  • Ming Xie
  • Scott M. Myers
  • David S. Mandell
Original Investigation


The rise in the prevalence of autism spectrum disorder (ASD) has resulted in increased efforts to understand the causes of this complex set of disorders that emerge early in childhood. Although research in this area is underway and yielding useful, but complex information about ASD, guidelines for the use of genetic testing and counseling among children with ASD conflict. The purpose of this study was to determine the frequency of use of genetic testing and counseling before the widespread implementation of clinical chromosomal microarray (CMA) to establish a baseline for the use of both services and to investigate potential disparities in the use of both services among children with ASD. We found that about two-thirds of children with ASD received genetic testing or counseling and the use of both services is increasing with time, even in the pre-CMA era. Being female and having a comorbid intellectual disability diagnosis both increased the likelihood of receiving genetic testing and genetic counseling. Initial discrepancies in the use of both services based on race/ethnicity suggest that troubling disparities observed in other services delivered to children with ASD and other mental health disorders persist in genetic testing and counseling as well. These results should incentivize further investigation of the impact of genetic testing and counseling on children with ASD and their families, and should drive efforts to explore and confront disparities in the delivery of these services, particularly with the advancing scientific research on this topic.


Autism Spectrum Disorder Autism Spectrum Disorder Genetic Testing Genetic Counseling Intellectual Disability 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Lindsay Shea
    • 1
    Email author
  • Craig J. Newschaffer
    • 1
  • Ming Xie
    • 2
  • Scott M. Myers
    • 3
  • David S. Mandell
    • 2
    • 4
  1. 1.A.J. Drexel Autism InstituteDrexel UniversityPhiladelphiaUSA
  2. 2.Center for Mental Health Policy and Services ResearchUniversity of PennsylvaniaPhiladelphiaUSA
  3. 3.Geisinger Health SystemDanvilleUSA
  4. 4.Center for Autism ResearchChildren’s Hospital of PhiladelphiaPhiladelphiaUSA

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