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Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance
Author(s) -
Solomon Ilana,
Harrington Elizabeth,
Hooker Gillian,
Erby Lori,
Axilbund Jennifer,
Hampel Heather,
Semotiuk Kara,
Blanco Amie,
Klein William M. P.,
Giardiello Francis,
Leonard Lori
Publication year - 2017
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-017-0066-y
Subject(s) - lynch syndrome , psychosocial , genetic counseling , genetic testing , coping (psychology) , medicine , health care , clinical psychology , psychiatry , psychology , cancer , dna mismatch repair , genetics , colorectal cancer , biology , economics , economic growth
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.