Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients

While genomic medicine is becoming an important part of patient care with an ever‐increasing diagnostic yield, communicating variants of uncertain clinical significance (VUSs) remains a major challenge. We draw on qualitative analysis of semi‐structured interviews conducted in 2020 with 20 Israeli h...

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Bibliographic Details
Published in:Journal of genetic counseling 2022-08, Vol.31 (4), p.912-921
Main Authors: Levin Fridman, Alma, Raz, Aviad, Timmermans, Stefan, Shkedi‐Rafid, Shiri
Format: Article
Language:English
Subjects:
Causality
Clinical significance
Communication
Genetic counseling
Genetic diversity
genomic designation
Genomics
Health care
Medical personnel
Narration
Patients
Professional attitudes
Qualitative research
Reclassification
Strategic management
Uncertainty
variant classification
variant of uncertain significance
Variants
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Summary:While genomic medicine is becoming an important part of patient care with an ever‐increasing diagnostic yield, communicating variants of uncertain clinical significance (VUSs) remains a major challenge. We draw on qualitative analysis of semi‐structured interviews conducted in 2020 with 20 Israeli healthcare professionals and stakeholders involved in communicating the results of genome‐wide sequencing to patients. Respondents described four main strategies of communicating VUSs to patients: preparing the patient pre‐test for uncertainty; adapting the level of detail to the patient's needs; upgrading versus downgrading the VUS; and following up on the possible reclassification of VUSs. These strategies were expressed differently by physicians and genetic counselors, varying according to their specialty and perception of the patient's situation. We discuss the strategic management and communication of uncertain genomic test results with patients in the context of meeting patients' expectations and working toward genetic causality through genomic narration and designation.
ISSN:1059-7700
1573-3599
DOI:10.1002/jgc4.1560