Cancer patients’ understandings of genetic variants of uncertain significance in clinical care

Yael Amano, Aviad Raz, Stefan Timmermans, Shiri Shkedi-Rafid

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Genetic variants of uncertain significance (VUSs) pose a growing challenge for patient communication and care in precision genomic medicine. To better understand patient perspectives of VUSs, we draw on qualitative analysis of semi-structured interviews with 22 cancer patients and individuals with cancer family history who received a VUS result. The majority of patients did not recall receiving VUS results and those who remembered expressed few worries, while respondents who were tested because of a family history of cancer were more concerned about the VUS results. Personal characteristics, medical condition, family history, expectations prior to testing, and motivations for pursuing testing influence the ways patients came to terms with the uncertainty of the VUS result. We conclude by discussing the relevance of the findings to the debate on the responsibility of the patient in checking back for VUS reclassification and to implications for genetic counseling that emphasizes tailoring the pre- and post-test discussion of VUS as appropriate to the patients’ informational as well as emotional needs.

Original languageEnglish
Pages (from-to)381-388
Number of pages8
JournalJournal of Community Genetics
Issue number4
StatePublished - 1 Aug 2022


  • Cancer genetics
  • Genetic counseling
  • Genetic testing
  • Qualitative research
  • Uncertainty
  • Variants of uncertain significance

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health
  • Genetics(clinical)
  • Epidemiology


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