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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Bibliographic Details
Published in:Journal of community genetics 2022-02, Vol.13 (1), p.13-18
Main Authors: Fridman, Alma Levin, Raz, Aviad, Timmermans, Stefan, Shkedi-Rafid, Shiri
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Epidemiology
Gene Function
Gene Therapy
Genomics
Health care
Human Genetics
Original
Original Article
Patients
Public Health
Reclassification
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Summary: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.
ISSN:1868-310X
1868-6001
DOI:10.1007/s12687-021-00556-x