The Experiences and Needs of Individuals With a Variant of Uncertain Significance (VUS) on Genetic Tests for Hereditary Cancer Syndromes: A Grounded Theory Study

Background: The use of multigene panel testing for identifying individuals with hereditary cancer susceptibility has expanded in recent years. The number of individuals who have a variant of unknown significance (VUS) result is increasing. However, little is known about the experiences and needs of this group. This study’s purpose was to describe the experiences and needs of individuals with a VUS result by focusing on their experiences in communicating with healthcare providers and family members. Methods: A constructivist grounded theory approach was used. Recruitment took place from January–July 2021 through social media: the Prospective Registry of Multiplex Testing (PROMPT), and the Facing Our Risk (FORCE) websites. A total of 20 individuals participated in the study. Data were collected through semistructured interviews, and the verified transcripts were analyzed in NViVo. Results: Categories were sorted into by time: pretest, testing, and posttesting process. Categories included motivations, communication with family, family characteristics, communication with healthcare providers, other factors affecting the testing experiences, feelings about having a VUS, recall and understanding of the test result and its implications, coping strategies used, and risk management strategies used. From these categories, a theoretical model to describe the experiences of individuals with a VUS vi was developed. In the theory, contextual factors such as personality, coping style, and cancer history, decisions about medical care, communicating with healthcare providers and family members, and needs such as knowledgeable and trustworthy providers, support for emotional needs, and open lines of communication were part of the experience described by participants. Conclusion: This study describes the experiences of individuals who have a VUS from their point of view. The proposed theoretical model proposes the key themes that impact the experience: context; decision-making; communication with healthcare providers and family; and the need for knowledgeable and trustworthy providers; met emotional needs; and open lines of communication