Journal of Autism and Developmental Disorders

, Volume 45, Issue 10, pp 3262–3275 | Cite as

Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders

  • Marian ReiffEmail author
  • Ellen Giarelli
  • Barbara A. Bernhardt
  • Ebony Easley
  • Nancy B. Spinner
  • Pamela L. Sankar
  • Surabhi Mulchandani
Original Paper


Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test’s perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents participated in a semi-structured telephone interview, and 50 also completed a survey. Most parents reported that CMA was helpful for their child and family. Major themes regarding perceived usefulness were: medical care, educational and behavioral interventions, causal explanation, information for family members, and advancing knowledge. Limits to utility, uncertainties and negative outcomes were also identified. Our findings highlight the importance of considering both health and non-health related utility in genomic testing.


Autism spectrum disorders Chromosomal microarray analysis Genomic testing Qualitative Perceived utility Parent perspectives 



The authors wish to thank Rena Vanzo of Lineagen Inc. for assistance with recruitment, and all the parents for their participation in the study. This research was supported by a Grant from the National Human Genome Research Institute of the National Institutes of Health. Preliminary results for this paper were presented at the American College of Medical Genetics Annual Meeting, New Orleans (2014).

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical standard

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


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Division of Translational Medicine and Human Genetics, Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaUSA
  2. 2.Mixed Methods Research LabUniversity of PennsylvaniaPhiladelphiaUSA
  3. 3.Division of Genomic Diagnostics and Human GeneticsChildren’s Hospital of PhiladelphiaPhiladelphiaUSA
  4. 4.Department of Pathology and Laboratory Medicine, Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaUSA
  5. 5.Department of Medical Ethics and Health PolicyUniversity of PennsylvaniaPhiladelphiaUSA
  6. 6.College of Nursing and Health ProfessionsDrexel UniversityPhiladelphiaUSA

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