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Cancer patients’ understandings of genetic variants of uncertain significance in clinical care
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 c...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9134724/ https://www.ncbi.nlm.nih.gov/pubmed/35616809 http://dx.doi.org/10.1007/s12687-022-00594-z |
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author | Amano, Yael Raz, Aviad Timmermans, Stefan Shkedi-Rafid, Shiri |
author_facet | Amano, Yael Raz, Aviad Timmermans, Stefan Shkedi-Rafid, Shiri |
author_sort | Amano, Yael |
collection | PubMed |
description | 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-022-00594-z. |
format | Online Article Text |
id | pubmed-9134724 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-91347242022-05-26 Cancer patients’ understandings of genetic variants of uncertain significance in clinical care Amano, Yael Raz, Aviad Timmermans, Stefan Shkedi-Rafid, Shiri J Community Genet Original Article 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-022-00594-z. Springer Berlin Heidelberg 2022-05-26 2022-08 /pmc/articles/PMC9134724/ /pubmed/35616809 http://dx.doi.org/10.1007/s12687-022-00594-z Text en © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 |
spellingShingle | Original Article Amano, Yael Raz, Aviad Timmermans, Stefan Shkedi-Rafid, Shiri Cancer patients’ understandings of genetic variants of uncertain significance in clinical care |
title | Cancer patients’ understandings of genetic variants of uncertain significance in clinical care |
title_full | Cancer patients’ understandings of genetic variants of uncertain significance in clinical care |
title_fullStr | Cancer patients’ understandings of genetic variants of uncertain significance in clinical care |
title_full_unstemmed | Cancer patients’ understandings of genetic variants of uncertain significance in clinical care |
title_short | Cancer patients’ understandings of genetic variants of uncertain significance in clinical care |
title_sort | cancer patients’ understandings of genetic variants of uncertain significance in clinical care |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9134724/ https://www.ncbi.nlm.nih.gov/pubmed/35616809 http://dx.doi.org/10.1007/s12687-022-00594-z |
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