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26.01.2017 | Original Research | Ausgabe 4/2017

Journal of Genetic Counseling 4/2017

Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance

Zeitschrift:
Journal of Genetic Counseling > Ausgabe 4/2017
Autoren:
Ilana Solomon, Elizabeth Harrington, Gillian Hooker, Lori Erby, Jennifer Axilbund, Heather Hampel, Kara Semotiuk, Amie Blanco, William M. P. Klein, Francis Giardiello, Lori Leonard

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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