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Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification
While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, recontacting patients after reclassification of variants of uncertain clinical significance (VUSs) remains a major challenge. Although periodical reinterpretation of VUSs is highly desired,...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8491183/ https://www.ncbi.nlm.nih.gov/pubmed/34609721 http://dx.doi.org/10.1007/s12687-021-00556-x |
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author | Fridman, Alma Levin Raz, Aviad Timmermans, Stefan Shkedi-Rafid, Shiri |
author_facet | Fridman, Alma Levin Raz, Aviad Timmermans, Stefan Shkedi-Rafid, Shiri |
author_sort | Fridman, Alma Levin |
collection | PubMed |
description | While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, recontacting patients after reclassification of variants of uncertain clinical significance (VUSs) remains a major challenge. Although periodical reinterpretation of VUSs is highly desired, recontacting former patients with new classifications is commonly not fulfilled in practice. We draw on semi-structured interviews with 20 Israeli healthcare professionals and stakeholders involved in communicating the results of genome-wide sequencing to patients. Findings show agreement that an individual health care professional cannot address the task of recontacting patients after re-classification, and that responsibility should be shared among the medical specialties, laboratory scientists, as well as patients. In the absence of established guidelines, many respondents suggested that the patient should be informed about reclassification during a follow-up contact but they disagreed who should be responsible for informing the patient. HCPs agreed that the solution to this challenge involves a centralized automated database that is accessible, continuously updated, and facilitates retrospective as well as prospective flagging of reclassification for patients who can benefit from this information. National and international policies providing concrete guidelines on the optimal way to recontact patients with new valuable genomic information are needed. |
format | Online Article Text |
id | pubmed-8491183 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-84911832021-10-05 Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification Fridman, Alma Levin Raz, Aviad Timmermans, Stefan Shkedi-Rafid, Shiri J Community Genet Original Article While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, recontacting patients after reclassification of variants of uncertain clinical significance (VUSs) remains a major challenge. Although periodical reinterpretation of VUSs is highly desired, recontacting former patients with new classifications is commonly not fulfilled in practice. We draw on semi-structured interviews with 20 Israeli healthcare professionals and stakeholders involved in communicating the results of genome-wide sequencing to patients. Findings show agreement that an individual health care professional cannot address the task of recontacting patients after re-classification, and that responsibility should be shared among the medical specialties, laboratory scientists, as well as patients. In the absence of established guidelines, many respondents suggested that the patient should be informed about reclassification during a follow-up contact but they disagreed who should be responsible for informing the patient. HCPs agreed that the solution to this challenge involves a centralized automated database that is accessible, continuously updated, and facilitates retrospective as well as prospective flagging of reclassification for patients who can benefit from this information. National and international policies providing concrete guidelines on the optimal way to recontact patients with new valuable genomic information are needed. Springer Berlin Heidelberg 2021-10-05 2022-02 /pmc/articles/PMC8491183/ /pubmed/34609721 http://dx.doi.org/10.1007/s12687-021-00556-x Text en © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 |
spellingShingle | Original Article Fridman, Alma Levin Raz, Aviad Timmermans, Stefan Shkedi-Rafid, Shiri Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification |
title | Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification |
title_full | Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification |
title_fullStr | Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification |
title_full_unstemmed | Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification |
title_short | Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification |
title_sort | fragmented responsibility: views of israeli hcps regarding patient recontact following variant reclassification |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8491183/ https://www.ncbi.nlm.nih.gov/pubmed/34609721 http://dx.doi.org/10.1007/s12687-021-00556-x |
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