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

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

Research output: Contribution to journalArticle

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 languageEnglish (US)
Article numbere1252
JournalMolecular Genetics and Genomic Medicine
Volume8
Issue number6
DOIs
StatePublished - Jun 1 2020

Keywords

  • C282Y HFE
  • direct to consumer genetic testing
  • genetic counseling
  • hereditary hemochromatosis

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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