The False-negative Phenotype.
Pediatrics
; 143(Suppl 1): S33-S36, 2019 01.
Article
en En
| MEDLINE
| ID: mdl-30600269
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
2_ODS3
Problema de salud:
2_muertes_prematuras_enfermedades_notrasmisibles
Asunto principal:
Fenotipo
/
Variación Genética
/
Pruebas Genéticas
/
Reacciones Falso Negativas
/
Enfermedades Asintomáticas
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Aspecto:
Ethics
Límite:
Humans
Idioma:
En
Revista:
Pediatrics
Año:
2019
Tipo del documento:
Article