Cancer patients' experience of receiving variant of uncertain significance results: An Asian perspective.
Nur Diana Binte IshakTarryn ShawShao-Tzu LiJeanette YuenHui Xuan GohZi Yang ChuaPriyadharshini SureshFrances Victoria F QueZewen ZhangJianbang ChiangJoanne Ngeow Yuen YiePublished in: Journal of genetic counseling (2023)
Due to a lack of ancestry-matched, functional, and segregation data, Asians have a higher rate of receiving a variant of uncertain significance (VUS) result following panel testing. Managing VUS results presents challenges, as it often leads to increased anxiety and distress among cancer patients undergoing genetic testing. This exploratory study aims to investigate the experience of Asian cancer patients upon receiving a VUS result. A qualitative, semi-structured interview study was conducted, involving cancer patients who had received a VUS result through the Cancer Genetics Service of the National Cancer Centre Singapore. Twenty participants were interviewed, and their responses were transcribed and analyzed using thematic analysis to identify key themes. Thematic analysis revealed five major themes: (1) VUS results are interpreted as uncertain outcomes; (2) a VUS result provides relief and prompts positive behavioral adjustments; (3) patients employ fatalism and religion as coping mechanisms to navigate uncertainty; (4) genetic counselors, family, and the community offer reassurance and support; (5) patients value updates on variant classifications for future management. While this novel study provides unique insights into the perspectives of Asian patients who receive VUS results, it also highlights patients' effective management of VUS results and uncertainty, which has implications for improving counseling practices in Asia. Emphasis must be placed on accurate interpretation and clear communication of VUS results to dispel the possibility of misconceptions, misdiagnosis, and mismanagement in cancer care.
Keyphrases
- end stage renal disease
- newly diagnosed
- ejection fraction
- healthcare
- patients undergoing
- chronic kidney disease
- prognostic factors
- primary care
- squamous cell carcinoma
- gene expression
- mental health
- mass spectrometry
- dna methylation
- squamous cell
- hepatitis c virus
- genome wide
- men who have sex with men
- big data
- physical activity
- deep learning
- human immunodeficiency virus
- insulin resistance
- high resolution
- artificial intelligence
- antiretroviral therapy
- smoking cessation
- electronic health record
- weight loss