ArticleJournal of community genetics2019
Experiences of patients seeking to participate in variant of uncertain significance reclassification research.
Article in Journal of community genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Perceptions of genetic variant reclassification in patients with inherited cardiac disease.European journal of human genetics : EJHG · 2019Trial
- The relationship between uncertainty and trust in genomic medicine and research: A literature review and thematic analysis.European journal of human genetics : EJHG · 2026Review
- Evaluating the impact of family history and polygenic risk scores on cardiometabolic disease risk.BMC medicine · 2026Article
- Mastering genetics for your clinic: A step-by-step guide.The Journal of allergy and clinical immunology · 2025Review
- Psychological distress following multi-gene panel testing for hereditary breast and ovarian cancer risk.Journal of genetic counseling · 2025Article
- Precision genome editing and in-cell measurements of oxidative DNA damage repair enable functional and mechanistic characterization of cancer-associated MUTYH variants.Nucleic acids research · 2025Article
- The Frequency and Reclassification of Variants Uncertain Significance in Hereditary Breast and Ovarian Cancer Among Levantine Patients.Cancer management and research · 2025Article
- The potential clinical and public health implications of presymptomatic genetic testing for transthyretin amyloidosis in African American/Black adults in the United States.Frontiers in genetics · 2025Article
- Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing.Genetics in medicine open · 2025Article
- Implications of genetic testing and informed consent before and after genetic testing in individuals with cancer.World journal of clinical oncology · 2024Article
- Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance.Journal of medical ethics · 2024Article
- The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.Communications biology · 2024Article
- Reflections on my international genetic counseling rotations: Contrasts in practice between India and the United States.Genetics in medicine open · 2024Article
- PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.Nature genetics · 2023Article
- Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.Genome medicine · 2023Article
- Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disorders.Frontiers in molecular neuroscience · 2023Article
- Experiences of individuals with a variant of uncertain significance on genetic testing for hereditary cancer risks: a mixed method systematic review.Journal of community genetics · 2022Review
- Cancer patients' understandings of genetic variants of uncertain significance in clinical care.Journal of community genetics · 2022Article
- Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?American journal of human genetics · 2022Article
- Evolution of germline TP53 variant classification in children with cancer.Cancer genetics · 2022Article
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5 authors.
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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' well-being, and to advance science. Perhaps the direct acknowledgement and appraisal of uncertainty as a means of coping was missing in some pre-test counseling experienced by our participants and thus they were not psychologically prepared for atypical VUS results. The finding of VUS-induced provider distrust suggests a need for careful consideration of appropriate pre- and post-test counseling about VUS.
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