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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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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. |
format | Online Article Text |
id | pubmed-9541910 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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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