Open AccessFailure to follow up on a medically actionable finding from direct to consumer genetic testing: A case report
Author(s) -
Garmany Ramin,
Lee Christopher J.,
Sharp Richard R.,
Kullo Iftikhar J.
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1252
Subject(s) - genetic testing , phlebotomy , genetic counseling , medicine , hemochromatosis , referral , transferrin saturation , ferritin , serum ferritin , bioinformatics , genetics , family medicine , biology
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.