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Stakeholders’ Opinions on the Implementation of Pediatric Whole Exome Sequencing: Implications for Informed Consent

  • Next Generation Genetic Counseling
  • Published:
Journal of Genetic Counseling

Abstract

Advances in whole genome and whole exome sequencing (WGS/WES) technologies have led to increased availability in clinical settings. Currently, there are few guidelines relating to the process and content of informed consent for WGS/WES, nor to which results should be returned to families. To address this gap, we conducted focus groups to assess the views of professionals, parents, and adolescents for the future implementation of WES. The discussions assessed understanding of the risks and benefits of WES, preferences for the informed consent discussion, process for return of results, and the decision-making role of the pediatric patient. Professional focus group participants included bioethicists, physicians, laboratory directors, and genetic counselors. Parent focus groups included individuals with children who could be offered sequencing due to a potential genetic cause of the child’s condition. On-line discussion groups were conducted with adolescents aged 13–17 who had a possible genetic disorder. We identified discrepancies between professionals and patient groups regarding the process and content of informed consent, preference for return of results, and the role of the child in decision-making. Professional groups were concerned with the uncertainty regarding professional obligations, changing interpretation in genomic medicine, and practical concerns of returning results over time. Parent and adolescent groups focused on patient choice and personal utility of sequencing results. Each group expressed different views on the role of the child in decision-making and return of results. These discrepancies represent potential barriers to informed consent and a challenge for genetic counselors regarding the involvement of pediatric patients in decision-making and return of results discussions.

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Acknowledgments

This study was completed in partial fulfillment of the requirements for the first author’s Masters degree in Genetic Counseling from Arcadia University. We are grateful to all the participants for participating in this study. We appreciate the efforts of Dr. Marni J. Falk, Dr. Ian D. Krantz, Dr. Victoria L. Vetter, Elizabeth Taylor Dechene, MS CGC, Danielle Haley, MPH; Alisha Wilkens, MS CGC; Elizabeth McCormick, MS CGC; Tiffany Ryan-D’Urso, M.S., Debra Dunn, Esq, and Dr. Debra Matthews for their help with recruitment of focus group participants. This work was supported by grant U01 HG006546-01 from the National Human Genome Research Institute.

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Authors and Affiliations

  1. Hospital of the University of Pennsylvania, 3400 Spruce Street, Penn Tower Room 1115, Philadelphia, PA, 19104, USA

    Brooke L. Levenseller

  2. Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

    Danielle J. Soucier

  3. Department of Anesthesiology and Critical Care, The Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

    Victoria A. Miller

  4. Division of Hematology/Oncology, The Abramson Cancer Center and the Perelman Center for Advanced Medicine at the University of Pennsylvania, Philadelphia, PA, USA

    Diana Harris

  5. Arcadia University, Glenside, PA, USA

    Laura Conway

  6. Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, Philadelphia, PA, USA

    Barbara A. Bernhardt

  7. Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

    Barbara A. Bernhardt

Authors
  1. Brooke L. Levenseller
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  2. Danielle J. Soucier
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  3. Victoria A. Miller
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  4. Diana Harris
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  5. Laura Conway
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  6. Barbara A. Bernhardt
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Correspondence to Brooke L. Levenseller.

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Levenseller, B.L., Soucier, D.J., Miller, V.A. et al. Stakeholders’ Opinions on the Implementation of Pediatric Whole Exome Sequencing: Implications for Informed Consent. J Genet Counsel 23, 552–565 (2014). https://doi.org/10.1007/s10897-013-9626-y

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  • DOI: https://doi.org/10.1007/s10897-013-9626-y

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