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Pediatric Whole Exome Sequencing: an Assessment of Parents’ Perceived and Actual Understanding.

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Journal of Genetic Counseling

Abstract

Whole exome sequencing (WES) is an integral tool in the diagnosis of genetic conditions in pediatric patients, but concerns have been expressed about the complexity of the information and the possibility for secondary findings that need to be conveyed to those deciding about WES. Currently, there is no validated tool to assess parental understanding of WES. We developed and implemented a survey to assess perceived and actual understanding of WES in parents who consented to clinical WES for their child between July 2013 and May 2015. Fifty-three eligible surveys were returned (57% response rate). Areas with both low perceived and actual understanding about WES included how genes are analyzed and lack of protection against life insurance discrimination. Parents also had low actual understanding for two questions related to secondary findings – reporting of secondary findings in a parent (if tested) and whether secondary findings can be related to traits such as height and hair color. Further work to develop a validated tool to assess understanding of WES would be beneficial as WES is integrated more frequently into clinical care.

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Acknowledgments

This publication was supported by a Research Award to the first author from the Division of Human Genetics at Cincinnati Children’s Hospital Medical Center.

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Authors and Affiliations

  1. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Leandra K. Tolusso, Kathleen Collins, Xue Zhang, C. Alexander Valencia & Melanie F. Myers

  2. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA

    Leandra K. Tolusso, Kathleen Collins, Xue Zhang, C. Alexander Valencia & Melanie F. Myers

  3. University of Minnesota Health, Minneapolis, MN, USA

    Jennifer R. Holle

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  1. Leandra K. Tolusso
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  2. Kathleen Collins
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  3. Xue Zhang
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  5. C. Alexander Valencia
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Correspondence to Leandra K. Tolusso.

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Leandra K. Tolusso, Kathleen Collins, Xue Zhang, Jennifer R. Holle, C. Alexander Valencia, and Melanie F. Myers declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all participants for being included in the study.

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No animal studies were carried out by the authors for this article.

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Tolusso, L.K., Collins, K., Zhang, X. et al. Pediatric Whole Exome Sequencing: an Assessment of Parents’ Perceived and Actual Understanding.. J Genet Counsel 26, 792–805 (2017). https://doi.org/10.1007/s10897-016-0052-9

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  • DOI: https://doi.org/10.1007/s10897-016-0052-9

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