title: Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance.
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.
authors.affiliation: City of Hope National Medical Center, 1500 E. Duarte Rd., Duarte, CA, 91010, USA. isolomon@coh.org.
authors.forename: Ilana
authors.identifier: http://orcid.org/0000-0002-7565-2623
authors.initials: I
authors.lastname: Solomon
authors.affiliation: Stanford School of Medicine, Stanford, CA, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Harrington
authors.affiliation: NextDxGx, Franklin, TN, USA.
authors.forename: Gillian
authors.initials: G
authors.lastname: Hooker
authors.affiliation: National Human Genome Research Institute, Bethesda, MD, 20892, USA.
authors.forename: Lori
authors.initials: L
authors.lastname: Erby
authors.affiliation: Invitae, San Francisco, CA, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Axilbund
authors.affiliation: The Ohio State University Comprehensive Cancer Institute, Columbus, OH, USA.
authors.forename: Heather
authors.initials: H
authors.lastname: Hampel
authors.affiliation: Mount Sinai Hospital Zane Cohen Centre for Digestive Diseases, Toronto, ON, Canada.
authors.forename: Kara
authors.initials: K
authors.lastname: Semotiuk
authors.affiliation: University of California San Francisco Helen Diller Family Comprehensive Cancer Treatment Center, San Francisco, CA, USA.
authors.forename: Amie
authors.initials: A
authors.lastname: Blanco
authors.affiliation: Behavioral Research Program, National Cancer Institute, Rockville, MD, USA.
authors.forename: William M P
authors.initials: WMP
authors.lastname: Klein
authors.affiliation: Johns Hopkins Sidney Kimmel Cancer Center, Baltimore, MD, USA.
authors.forename: Francis
authors.initials: F
authors.lastname: Giardiello
authors.affiliation: Department of Development Sociology, Cornell University, New York, NY, USA.
authors.forename: Lori
authors.initials: L
authors.lastname: Leonard
mesh_terms: D000223:Adaptation, Psychological; D000328:Adult; D000368:Aged; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D008875:Middle Aged; D035501:Uncertainty
keywords: Cancer genetics; HNPCC; Lynch syndrome; Uncertainty; VUS