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