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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,...

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Autores principales: Fridman, Alma Levin, Raz, Aviad, Timmermans, Stefan, Shkedi-Rafid, Shiri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
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.
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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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