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

摘要

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