Evidence map›Paper›PMID 26318596›Full record

ArticleJournal of genetic counseling2016

Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome.

Sarah Predham, Sara Hamilton, Alison M Elliott, William T Gibson

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

2 citing papers in PubMed.

  1. Article
  2. Review
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.

Sarah PredhamDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Sara HamiltonDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Alison M ElliottDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
William T GibsonDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. wtgibson@cfri.ubc.ca.

Funding

Wellcome Trust 100714
6 · The paper itself

Abstract

We report the case of a woman who pursued direct access genetic testing and then presented with concerns regarding a positive test result for Long-QT syndrome. Although the result ultimately proved to be a false positive, this case illustrates that costs associated with follow-up of direct access genetic testing results can be non-trivial for both the patient and for health care systems. Here we raise policy questions regarding the appropriate distribution of these costs. We also discuss the possibility that, when confronted by a direct access genetic test result that reports high risk for one or more actionable diseases, a family physician might feel compelled to act out of a desire to avoid liability, even when information regarding the accuracy and validity of the testing were not easily accessible. This case outlines lessons that can easily be translated into clinical practice, not only by genetic counselors, but also by family physicians, medical specialists and members of the public.

Indexed as

False Positive ReactionsFemaleGenetic TestingHealth Care CostsHumansLong QT SyndromeDirect access genetic testingFalse positiveHealth economicsLong-QT syndromePositive predictive valuePublic policySecondary findingsTesting accuracy

Identifiers

PMID26318596

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.