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

Year: 2020

Type: article

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.

Source: Molecular Genetics & Genomic Medicine

DOI: 10.1002/mgg3.1252

Authors: Ramin Garmany, Christopher J. Lee, Richard R. Sharp, Iftikhar J. Kullo

Institution: Mayo Clinic

Language: English

Topic: Iron Metabolism and Disorders

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,200