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. Methods: The individual took part in the Mayo Clinic Return of Actionable Variants Empiric (RAVE) study and the actionable finding was confirmed and results disclosed in person by a genetic counselor with subsequent referral to a hepatologist. Results: Further testing revealed iron overload with an elevated ferritin level (560 ng/ml) and increased ferritin saturation (74%). Phlebotomy was initiated with subsequent normalization of the ferritin levels (252 ng/ml). Conclusion: This case highlights that actionable genetic results may not be acted on after direct to consumer testing and the need for effective genetic counseling after such testing.
Original language | English (US) |
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Article number | e1252 |
Journal | Molecular Genetics and Genomic Medicine |
Volume | 8 |
Issue number | 6 |
DOIs | |
State | Published - Jun 1 2020 |
Keywords
- C282Y HFE
- direct to consumer genetic testing
- genetic counseling
- hereditary hemochromatosis
ASJC Scopus subject areas
- Molecular Biology
- Genetics
- Genetics(clinical)