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Was it worth it? Patients’ perspectives on the perceived value of genomic-based individualized medicine

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Abstract

The value of genomic sequencing is often understood in terms of its ability to affect diagnosis or treatment. In these terms, successes occur only in a minority of cases. This paper presents views from patients who had exome sequencing done clinically to explore how they perceive the utility of genomic medicine. The authors used semi-structured, qualitative interviews in order to study patients’ attitudes toward genomic sequencing in oncology and rare-disease settings. Participants from 37 cases were interviewed. In terms of the testing’s key values—regardless of having received what clinicians described as meaningful results—participants expressed four qualities that are separate from traditional views of clinical utility: Participants felt they had been empowered over their own health. They felt they had contributed altruistically to the progress of genomic technology in medicine. They felt their suffering had been legitimated. They also felt a sense of closure, having done everything they could. Patients expressed overwhelmingly positive attitudes toward sequencing. Their rationale was not solely based on the results’ clinical utility. It is important for clinicians to understand this non-medical reasoning as it pertains to patient decision-making and informed consent.

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Acknowledgments

We thank the study participants for their time and contribution. The authors also thank Kiley J Johnson, Kimberly Guthrie, and Kimberly Schahl for facilitating access to patients. This study was supported by the Mayo Clinic Center for Individualized Medicine. JBMc’s effort was funded in part by CTSA Grant Number TL1TR000137 from the National Center for Advancing Translational Science (NCATS)/National Institutes of Health (NIH). CME Halverson was funded by a generous grant from the Wenner-Gren Foundation and by the Hanna Holborn Gray Mellon Fellowship.

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Authors and Affiliations

  1. Biomedical Ethics Program, Mayo Clinic , Rochester, MN, USA

    Colin ME Halverson, Kristin E Clift & Jennifer B McCormick

  2. Department of Anthropology, University of Chicago, Chicago, IL, USA

    Colin ME Halverson

  3. Division of Health Care Research and Policy, Mayo Clinic, Rochester, MN, USA

    Jennifer B McCormick

  4. Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA

    Jennifer B McCormick

  5. Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA

    Kristin E Clift

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  1. Colin ME Halverson
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Correspondence to Jennifer B McCormick.

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The authors declare that they have no competing interest.

Human and animal rights and informed consent

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

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Halverson, C.M., Clift, K.E. & McCormick, J.B. Was it worth it? Patients’ perspectives on the perceived value of genomic-based individualized medicine. J Community Genet 7, 145–152 (2016). https://doi.org/10.1007/s12687-016-0260-x

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  • DOI: https://doi.org/10.1007/s12687-016-0260-x

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