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Moving toward more consistency in variant classification and clinical action

  • Karen L. David
    Correspondence
    Correspondence and requests for materials should be addressed to Karen L. David, Department of Medicine, NewYork-Presbyterian Brooklyn Methodist Hospital, 3rd Floor East Pavillion, 506 6th Street, Brooklyn, NY 11215
    Affiliations
    Department of Medicine, NewYork-Presbyterian Brooklyn Methodist Hospital, Brooklyn, NY
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  • Joshua L. Deignan
    Affiliations
    Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, CA
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Published:November 17, 2022DOI:https://doi.org/10.1016/j.gim.2022.09.014
      Genetics professionals understand that variant classifications are not static and can change over time. Reclassifications may occur in response to changes in evidence, new or modified approaches to weighing the evidence, and/or changes in the overall systems used to classify variants. How should other laboratories be notified about proposed reclassifications or even the original classifications from a particular laboratory? How should consensus among laboratories be reached? Should variant classifications be routinely reviewed by laboratories in a proactive manner as a form of continuous quality improvement? If so, should all variants or only variants of uncertain significance be proactively reviewed, or should the system remain largely reactive, with reclassifications being mainly clinician or patient initiated? Under what circumstances should the referring health care provider be notified and the patient recontacted for recounseling? These are some of the important questions tackled in the article “Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)” in the September issue of Genetics in Medicine.
      • Loong L.
      • Garrett A.
      • Allen S.
      • et al.
      Reclassification of clinically-detected sequence variants: framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
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