Evidence map›Paper›PMID 32329251›Full record

ArticleMolecular genetics & genomic medicine2020

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

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Ramin GarmanyDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-5756-7417
Christopher J LeeDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
Richard R SharpBiomedical Ethics Research Program, Mayo Clinic, Rochester, MN, USA.
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-6524-3471

Funding

Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
Patient-Oriented Research in Genomic Discovery and ImplementationK24HL137010 · NHLBI · MAYO CLINIC ROCHESTER · PI KULLO, IFTIKHAR J · 2017 to 2021
$590k
NHGRI NIH HHS U01 HG006379NHLBI NIH HHS K24 HL137010
6 · The paper itself

Abstract

backgroundA 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.

methodsThe 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.

resultsFurther 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).

conclusionThis 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.

Indexed as

Patient ComplianceDirect-To-Consumer Screening and TestingFemaleGenetic CounselingGenetic TestingHemochromatosisHemochromatosis ProteinHumansMiddle AgedMutation, MissenseHemochromatosis ProteinHFE protein, humanC282Y HFEdirect to consumer genetic testinggenetic counselinghereditary hemochromatosis

Identifiers

PMID32329251
PMCPMC7284021

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.