Cancer patients' experience of receiving variant of uncertain significance results: An Asian perspective

Nur Diana Ishak, Tarryn Shaw, Shao Tzu Li, Jeanette Yuen, Hui Xuan Goh, Zi Yang Chua, Priyadharshini Suresh, Frances Victoria F. Que, Zewen Zhang, Jianbang Chiang, Joanne Ngeow*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
JournalJournal of Genetic Counseling
DOIs
Publication statusAccepted/In press - 2023
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.

ASJC Scopus Subject Areas

  • Genetics(clinical)

Keywords

  • communication
  • diversity
  • genetic counselors
  • genetic testing
  • uncertainty
  • variants of uncertain significance (VUS)

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