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Counselees’ Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study

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Journal of Genetic Counseling

Abstract

Genomic applications raise multiple challenges including the optimization of genomic counseling (GC) services as part of the results delivery process. More information on patients’ motivations, preferences, and informational needs are essential to guide the development of new, more efficient practice delivery models that capitalize on the existing strengths of a limited genetic counseling workforce. Semi-structured telephone interviews were conducted with a subset of counselees from the Coriell Personalized Medicine Collaborative following online receipt of multiple personalized genomic test reports. Participants previously had either in-person GC (chronic disease cohort, n = 20; mean age 60 years) or telephone GC (community cohort, n = 31; mean age 46.8 years). Transcripts were analyzed using a Grounded Theory framework. Major themes that emerged from the interviews include 1) primary reasons for seeking GC were to clarify results, put results into perspective relative to other health-related concerns, and to receive personalized recommendations; 2) there is need for a more participant driven approach in terms of mode of GC communication (in-person, phone, video), and refining the counseling agenda pre-session; and 3) there was strong interest in the option of follow up GC. By clarifying counselees’ expectations, views and desired outcomes, we have uncovered a need for a more participant-driven GC model when potentially actionable genomic results are received online.

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Acknowledgments

We thank Hannah Helbert for her assistance with this study.

Author information

Authors and Affiliations

  1. Division of Human Genetics, Ohio State University Wexner Medical Center, 2012 Kenny Road, Columbus, OH, 43221, USA

    Kevin Sweet, Amy C. Sturm, Karen Wernke & Amanda E. Toland

  2. School of Communication, Ohio State University, Columbus, OH, 43214, USA

    Shelly Hovick

  3. Dorothy M. Davis Heart and Lung Research Institute, Ohio State University Wexner Medical Center, Columbus, OH, 43420, USA

    Amy C. Sturm

  4. Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ, 08103, USA

    Tara Schmidlen, Lisa Wawak, Laura Scheinfeldt & Michael Christman

  5. 23andMe, Mountain View, CA, 94043, USA

    Erynn Gordon

  6. Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Barbara Bernhardt

  7. Department of Biomedical Informatics, Center for Biostatistics, Columbus, OH, 43221, USA

    Joseph McElroy

  8. Temple University, SERC Building 1925 N. 12th St, Philadelphia, PA, 19122-1801, USA

    Laura Scheinfeldt

  9. Department of Health Behavior & Health Education, University of Michigan School of Public Health, Ann Arbor, MI, USA

    J. S. Roberts

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  1. Kevin Sweet
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  2. Shelly Hovick
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  3. Amy C. Sturm
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Corresponding author

Correspondence to Kevin Sweet.

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Funding

Research reported in this publication was supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number R21HG006575. This work was also supported by the Ohio State University Comprehensive Cancer Center. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The Coriell Personalized Medicine Collaborative was funded by the William G. Rohrer Foundation, the RNR Foundation and a grant from the endowment of the Coriell Institute for Medical Research.

Conflict of Interest

EG is currently a paid employee of 23andMe. She worked for the Coriell Institute for Medical Research at the time that this study was developed and the majority of the data collection period. The authors have no additional conflicts of interest to disclose.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the local medical ethical boards of the Ohio State University Wexner Medical Center and the Coriell Institute for Medical Research and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

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This article does not contain any studies with animals performed by any of the authors.

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Sweet, K., Hovick, S., Sturm, A.C. et al. Counselees’ Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study. J Genet Counsel 26, 738–751 (2017). https://doi.org/10.1007/s10897-016-0044-9

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