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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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Autores principales: Levin Fridman, Alma, Raz, Aviad, Timmermans, Stefan, Shkedi‐Rafid, Shiri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541910/
https://www.ncbi.nlm.nih.gov/pubmed/35122362
http://dx.doi.org/10.1002/jgc4.1560
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author Levin Fridman, Alma
Raz, Aviad
Timmermans, Stefan
Shkedi‐Rafid, Shiri
author_facet Levin Fridman, Alma
Raz, Aviad
Timmermans, Stefan
Shkedi‐Rafid, Shiri
author_sort Levin Fridman, Alma
collection PubMed
description 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.
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spelling pubmed-95419102022-10-14 Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients Levin Fridman, Alma Raz, Aviad Timmermans, Stefan Shkedi‐Rafid, Shiri J Genet Couns Original Articles 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. John Wiley and Sons Inc. 2022-02-04 2022-08 /pmc/articles/PMC9541910/ /pubmed/35122362 http://dx.doi.org/10.1002/jgc4.1560 Text en © 2022 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Levin Fridman, Alma
Raz, Aviad
Timmermans, Stefan
Shkedi‐Rafid, Shiri
Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients
title Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients
title_full Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients
title_fullStr Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients
title_full_unstemmed Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients
title_short Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients
title_sort views of israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541910/
https://www.ncbi.nlm.nih.gov/pubmed/35122362
http://dx.doi.org/10.1002/jgc4.1560
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