Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example.
J Community Genet
; 1(1): 41-6, 2010 Mar.
Article
en En
| MEDLINE
| ID: mdl-22422359
ABSTRACT
Consideration of postnatal population-based genetic screening programs is becoming increasingly common. Assessing the medical and psychosocial impacts of this can be particularly complex for genetic conditions with variable phenotypes, especially when outcomes may be more related to quality of life rather than reducing physical morbidity and mortality. In this article, we present a framework for assessing these impacts, by comparing diagnosis and non-diagnosis at different age points. We use the example of Klinefelter syndrome, a common yet frequently under-diagnosed genetic condition for which interventions are available. This framework can be used to supplement established screening guidelines and inform decision-making.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Guideline
/
Prognostic_studies
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Risk_factors_studies
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Screening_studies
Aspecto:
Patient_preference
Idioma:
En
Revista:
J Community Genet
Año:
2010
Tipo del documento:
Article