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

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. METHODS...

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Detalles Bibliográficos
Autores principales: Garmany, Ramin, Lee, Christopher J., Sharp, Richard R., Kullo, Iftikhar J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284021/
https://www.ncbi.nlm.nih.gov/pubmed/32329251
http://dx.doi.org/10.1002/mgg3.1252

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