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Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance

  • Original Research
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Journal of Genetic Counseling

Abstract

Providers and patients encounter challenges related to the management of Variants of Unknown Significance (VUS). A VUS introduces new counseling dilemmas for the understanding and psychosocial impact of uncertain genetic test results. This descriptive study uses Mishel’s theory of uncertainty in illness to explore the experience of individuals who have received a VUS as part of the genetic testing process. Semi-structured interviews were conducted with 27 adult individuals who received a VUS for Lynch syndrome mismatch repair genes between 2002 and 2013. The interviews were transcribed and analyzed. Most individuals recalled their result and perceived various types of uncertainty associated with their VUS. Half of the participants appraised their variant as a danger and implemented coping strategies to reduce the threat of developing cancer. Mobilizing strategies to reduce their risk included vigilant cancer surveillance, information seeking and notifying relatives. The majority of participants were unaware of the possibility of a VUS before receiving their result and expected reclassification over time. These results provide insight into the ways healthcare providers can support patients who receive VUS for Lynch syndrome. Findings also provide direction for future work that can further explicate the impact of receiving a VUS.

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Acknowledgements

This research was funded by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health. The authors wish to acknowledge Dr. Barbara B. Biesecker and Dr. Jeffrey N. Weitzel whose support, knowledge and perspectives contributed to the study. We would also like to acknowledge Lily Van Tongeren for assistance with manuscript preparation and to the study participants who shared their experiences.

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Authors and Affiliations

  1. City of Hope National Medical Center, 1500 E. Duarte Rd., Duarte, CA, 91010, USA

    Ilana Solomon

  2. Stanford School of Medicine, Stanford, CA, USA

    Elizabeth Harrington

  3. NextDxGx, Franklin, TN, USA

    Gillian Hooker

  4. National Human Genome Research Institute, Bethesda, MD, 20892, USA

    Lori Erby

  5. Invitae, San Francisco, CA, USA

    Jennifer Axilbund

  6. The Ohio State University Comprehensive Cancer Institute, Columbus, OH, USA

    Heather Hampel

  7. Mount Sinai Hospital Zane Cohen Centre for Digestive Diseases, Toronto, ON, Canada

    Kara Semotiuk

  8. University of California San Francisco Helen Diller Family Comprehensive Cancer Treatment Center, San Francisco, CA, USA

    Amie Blanco

  9. Behavioral Research Program, National Cancer Institute, Rockville, MD, USA

    William M. P. Klein

  10. Johns Hopkins Sidney Kimmel Cancer Center, Baltimore, MD, USA

    Francis Giardiello

  11. Department of Development Sociology, Cornell University, New York, NY, USA

    Lori Leonard

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  1. Ilana Solomon
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Correspondence to Ilana Solomon.

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Conflict of Interest

Ilana Solomon, Elizabeth Harrington, Gillian Hooker, Lori Erby, Jennifer Axilbund, Heather Hampel, Kara Semotiuk, Amie Blanco, William M. P. Klein, Francis Giardiello, Lori Leonard declare that they have no conflict of interest.

Human Studies 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). Informed consent was obtained from all patients for being included in the study

Animal Studies

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

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Solomon, I., Harrington, E., Hooker, G. et al. Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance. J Genet Counsel 26, 866–877 (2017). https://doi.org/10.1007/s10897-017-0066-y

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