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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...

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Autores principales: Amano, Yael, Raz, Aviad, Timmermans, Stefan, Shkedi-Rafid, Shiri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
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.
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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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