Failure to follow up on a medically actionable finding from direct to consumer genetic testing: A case report

Abstract Background A 61‐year‐old woman underwent direct to consumer genetic testing and was found to be homozygous for the C282Y HFE variant (c.845G>A :p.Cys282Tyr) which is classified as pathogenic/likely pathogenic for hereditary hemochromatosis. However, no action was taken by the individual....

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Bibliographic Details
Main Authors: Ramin Garmany, Christopher J. Lee, Richard R. Sharp, Iftikhar J. Kullo
Format: Article
Language:English
Published: Wiley 2020-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1252