Title

The False-negative Phenotype.

Document Type

Article

Publication Date

1-2019

Identifier

DOI: 10.1542/peds.2018-1099G

Abstract

Ethical controversies may arise when genome sequencing reveals a genetic variant that is thought to be pathogenic, but the patient has no symptoms. This could be due to variable penetrance or expressivity. It could also result from a misclassification of the gene as pathogenic. In this article, I analyze 2 possibilities when such a situation occurs. The first is straightforward. We could conclude that the sequencing results should be considered a "false-positive" test result. The second is a bit more counterintuitive. In some cases, we could consider the test result to be a true-positive but in way that has not yet led to phenotypic findings. Somewhat playfully, we imagine that, in such cases, we could consider the patient's phenotype to be falsely negative. Sometimes, as odd as it seems, we act is if that is what we believe.

Journal Title

Pediatrics

Volume

143

Issue

Suppl 1

First Page

33

Last Page

36

MeSH Keywords

Asymptomatic Diseases; Cardiomyopathy, Hypertrophic, Familial; Defibrillators, Implantable; False Negative Reactions; Genetic Testing; Genetic Variation; Humans; Leukodystrophy, Globoid Cell; Long QT Syndrome; Mass Screening; Penetrance; Phenotype; Whole Genome Sequencing

Keywords

Asymptomatic Diseases; Cardiomyopathy, Hypertrophic, Familial; Defibrillators, Implantable; False Negative Reactions; Genetic Testing; Genetic Variation; Humans; Leukodystrophy, Globoid Cell; Long QT Syndrome; Mass Screening; Penetrance; Phenotype; Whole Genome Sequencing

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