Journal of Autism and Developmental Disorders

, Volume 47, Issue 5, pp 1453–1463 | Cite as

“Set in Stone” or “Ray of Hope”: Parents’ Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD

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


Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents’ beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child’s CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result. However, parents’ expectations for the future tended to differ depending on results; those who received genetic confirmation for their children’s ASD expressed a sense of concreteness, acceptance and permanence of the condition. Some parents expressed hope for future biomedical treatments as a result of genetic research.


Autism spectrum disorders Chromosomal microarray analysis Genomic testing Parental expectations Causation beliefs Genetic determinism 



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.

Author Contributions

MR conceived of the study, participated in the design and coordination, and drafted the manuscript; EB participated in the coordination of the study and assisted with qualitative data analysis and write-up; BB participated in the design of the study and write-up; EG participated in interviewing, qualitative data analysis and write-up; PS participated in research design and interpretation of the data; NS participated in design of the research, provided access to participants, and participated in scientific conceptualization for study, SM participated in data interpretation, scientific conceptualization and access to participants. All authors read and approved the final manuscript.

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Approval

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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© Springer Science+Business Media New York 2017

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.College of Nursing and Health ProfessionsDrexel UniversityPhiladelphiaUSA
  4. 4.Division of Translational Medicine and Human Genetics, Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaUSA
  5. 5.Division of Genomic Diagnostics and the Division of Human Genetics, Children’s Hospital of PhiladelphiaUniversity of PennsylvaniaPhiladelphiaUSA
  6. 6.Department of Medical Ethics and Health PolicyUniversity of PennsylvaniaPhiladelphiaUSA
  7. 7.Counseling and Psychological ServicesUniversity of PennsylvaniaPhiladelphiaUSA
  8. 8.Department of Population, Family, and Reproductive HealthJohns Hopkins Bloomberg School of Public HealthBaltimoreUSA

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