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Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Genetic counselors working in a clinical setting may find themselves recruiting, enrolling, and returning results for genomic research, and existing clinical relationships with study participants may impact these research interactions. We present a qualitative study using semi-structured interviews of participants enrolled in a genome sequencing/exome sequencing (GS/ES) study at the same institution where they receive clinical care. Interviews were coded for motivations to participate and expectations of this research. The interviews revealed common motivations for participation, including altruism and hope for benefit for themselves, family members, and/or others with their condition. Additionally, themes emerged related to unintentional influence based on trust of the clinical provider that recruited them to the study. Participant trust in the enrolling provider at times appeared to extend to the study team to decide which research results to return and to do so in an appropriate format. Participants also based expectations for research results return on previous clinical genetic testing experiences, which may or may not be realistic depending on study design. It is imperative that genetic counselors enrolling patients into research studies be aware of the potential influence of their clinical relationship on potential subjects, be transparent about their role on the study team, and help set expectations about the study process, including results return.

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Acknowledgements

The authors thank the participants of this study who shared their thoughts and gave of their time so that our field could better understand their experiences. We also thank study team members Kate Reed and Lori AH Erby for conducting study interviews, as well as study team members Carrie Blout, Debra JH Matthews, and Aida Telegrafi for their support.

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Author notes

  1. Courtney Berrios and Cynthia A. James contributed equally to this work.

Authors and Affiliations

  1. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 600 North Wolfe Street, Blalock 1008, Baltimore, MD, 21287, USA

    Courtney Berrios, Karen Raraigh, Carolyn D. Applegate & Amanda L. Bergner

  2. Department of Medicine, Division of Cardiology, Johns Hopkins University, Baltimore, MD, USA

    Cynthia A. James, Brittney Murray & Crystal Tichnell

  3. Berman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA

    Juli Bollinger

Authors
  1. Courtney Berrios
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  2. Cynthia A. James
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  3. Karen Raraigh
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  4. Juli Bollinger
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  5. Brittney Murray
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  6. Crystal Tichnell
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  7. Carolyn D. Applegate
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  8. Amanda L. Bergner
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Corresponding author

Correspondence to Amanda L. Bergner.

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Funding

This work was partially supported by the Johns Hopkins McKusick-Nathans Institute of Genetic Medicine to complement activities of the Baylor-Hopkins Center for Mendelian Genomics, which is funded by a grant from the NHGRI/NHLBI (U54HG006542).

Conflict of Interest

Carolyn Applegate receives consulting fees from 23andMe.

Courtney Berrios, Cynthia James, Karen Raraigh, Juli Bollinger, Brittney Murray, Crystal Tichnell and Amanda Bergner declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

Animal Studies

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

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Berrios, C., James, C.A., Raraigh, K. et al. Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results. J Genet Counsel 27, 263–273 (2018). https://doi.org/10.1007/s10897-017-0143-2

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  • DOI: https://doi.org/10.1007/s10897-017-0143-2

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