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

Abstract

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.

Keywords

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

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Copyright information

© 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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