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

Mol Genet Genomic Med. 2020 Jun;8(6):e1252. doi: 10.1002/mgg3.1252. Epub 2020 Apr 23.

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.

Keywords: C282Y HFE; direct to consumer genetic testing; genetic counseling; hereditary hemochromatosis.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Direct-To-Consumer Screening and Testing / psychology*
  • Female
  • Genetic Counseling / psychology*
  • Genetic Testing
  • Hemochromatosis / diagnosis
  • Hemochromatosis / genetics*
  • Hemochromatosis / psychology
  • Hemochromatosis Protein / genetics*
  • Humans
  • Middle Aged
  • Mutation, Missense
  • Patient Compliance*

Substances

  • HFE protein, human
  • Hemochromatosis Protein