Experiences of patients seeking to participate in variant of uncertain significance reclassification research

Journal of Community Genetics
Sukh MakhnoonBrian H Shirts

Abstract

Patients' understanding of a genetic variant of unknown clinical significance (VUS) is likely to influence beliefs about risk implications, consequent medical decisions, and other actions such as involvement in research. We interviewed 26 self-selected participants with a clinically identified VUS before they enrolled into a VUS reclassification study. Semi-structured interviews addressed topics including motivation to get genetic test, experience with the VUS result, affective responses to receiving VUS, and perceived effect of VUS and reclassification on medical care. We found that family and personal history of disease were the most prevalent motivators for getting a genetic test. Participants demonstrated mixed understanding of VUS. Most expressed negative effect on learning of their VUS result and uncertainty about its impact on clinical management. Most expected reclassification efforts to benefit their family members but not themselves. Some expressed distrust of their providers following a VUS result. Participation in the VUS reclassification study appeared to be motivated by four factors for patients with VUS-negative effect about VUS, uncertainty about its impact on clinical management, concern for family members' wel...Continue Reading

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Citations

Jan 13, 2019·Journal of Genetic Counseling·Sukh MakhnoonDeborah J Bowen
Aug 23, 2019·Journal of Community Genetics·Kristin CliftStephanie Hines
Apr 25, 2020·Molecular Genetics & Genomic Medicine·Colin M E HalversonGeorgia L Wiesner
Mar 25, 2019·European Journal of Human Genetics : EJHG·Eugene K WongJodie Ingles
Nov 2, 2019·International Journal of Environmental Research and Public Health·Colleen M McBrideJennifer L Hay
Mar 16, 2019·Nature Reviews. Genetics·Samantha PollardDean A Regier
Jan 26, 2021·Current Opinion in Lipidology·Emily E Brown

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