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“Not Tied Up Neatly with a Bow”: Professionals’ Challenging Cases in Informed Consent for Genomic Sequencing

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

As the use of genomic technology has expanded in research and clinical settings, issues surrounding informed consent for genome and exome sequencing have surfaced. Despite the importance of informed consent, little is known about the specific challenges that professionals encounter when consenting patients or research participants for genomic sequencing. We interviewed 29 genetic counselors and research coordinators with considerable experience obtaining informed consent for genomic sequencing to understand their experiences and perspectives. As part of this interview, 24 interviewees discussed an informed consent case they found particularly memorable or challenging. We analyzed these case examples to determine the primary issue or challenge represented by each case. Challenges fell into two domains: participant understanding, and facilitating decisions about testing or research participation. Challenges related to participant understanding included varying levels of general and genomic literacy, difficulty managing participant expectations, and contextual factors that impeded participant understanding. Challenges related to facilitating decision-making included complicated family dynamics such as disagreement or coercion, situations in which it was unclear whether sequencing research would be a good use of participant time or resources, and situations in which the professional experienced disagreement or discomfort with participant decisions. The issues highlighted in these case examples are instructive in preparing genetics professionals to obtain informed consent for genomic sequencing.

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Acknowledgments

This study is a Clinical Sequencing Exploratory Research (CSER) program project supported by NHGRI grants: U01 HG006546 (Bernhardt and Tomlinson), 1U01 HG006487 (Roche and Skinner), U01 HG006500 (Perry), NHGRI/NCI 1U01HG006485 (Scollon).

Conflict of Interest

Authors Tomlinson, Skinner, Perry, Scollon, Roche and Bernhardt declare that they have no conflicts of interest.

Human Studies and Informed Consent

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

Animal Studies

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

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Authors and Affiliations

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

    Ashley N. Tomlinson & Barbara A. Bernhardt

  2. FPG Child Development Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

    Debra Skinner

  3. Brigham and Women’s Hospital, Boston, MA, USA

    Denise L. Perry

  4. Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA

    Sarah R. Scollon

  5. Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC, USA

    Myra I. Roche

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

    Barbara A. Bernhardt

Authors
  1. Ashley N. Tomlinson
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  2. Debra Skinner
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  3. Denise L. Perry
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  4. Sarah R. Scollon
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  5. Myra I. Roche
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  6. Barbara A. Bernhardt
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Correspondence to Barbara A. Bernhardt.

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Tomlinson, A.N., Skinner, D., Perry, D.L. et al. “Not Tied Up Neatly with a Bow”: Professionals’ Challenging Cases in Informed Consent for Genomic Sequencing. J Genet Counsel 25, 62–72 (2016). https://doi.org/10.1007/s10897-015-9842-8

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  • DOI: https://doi.org/10.1007/s10897-015-9842-8

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