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

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Abstract

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.

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Acknowledgments

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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Authors and Affiliations

  1. Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Penn Tower Room 1112, Philadelphia, PA, 19104, USA

    Marian Reiff & Barbara A. Bernhardt

  2. Mixed Methods Research Lab, University of Pennsylvania, Philadelphia, PA, USA

    Ebony Easley

  3. Division of Genomic Diagnostics and Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Nancy B. Spinner & Surabhi Mulchandani

  4. Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

    Nancy B. Spinner

  5. Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, PA, USA

    Pamela L. Sankar

  6. College of Nursing and Health Professions, Drexel University, Philadelphia, PA, USA

    Ellen Giarelli

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  1. Marian Reiff
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  2. Ellen Giarelli
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Correspondence to Marian Reiff.

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Reiff, M., Giarelli, E., Bernhardt, B.A. et al. Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders. J Autism Dev Disord 45, 3262–3275 (2015). https://doi.org/10.1007/s10803-015-2489-3

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