Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing.
J Genet Couns
; 21(1): 101-12, 2012 Feb.
Article
en En
| MEDLINE
| ID: mdl-21717286
ABSTRACT
Diagnostic tests are available to detect several mutations related to adult-onset, autosomal dominant, neurodegenerative diseases. We aimed to describe our experience in a presymptomatic testing program run by the Brazilian Public Health System from 1999 to 2009. A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA) - SCA3 (80%), Huntington's disease (11.9%), familial amyloidotic neuropathy (4.3%), SCA1, SCA2, SCA6, or SCA7. Most were women (70%), married (54%), and had children prior to presymptomatic testing (67%). Their mean age at entrance was 34 (SD = 11 years). Educational level was above the average Brazilian standard. After receipt of genetic counseling, 100 individuals (54%) decided to undergo testing; of these, 51 were carriers. Since no individual returned for post-test psychological evaluation, we conducted a subsequent survey, unrelated to test disclosures. We contacted 57 individuals of whom 31 agreed to participate (24 had been tested, 7 had not). Several ascertainment concerns relating to these numerous losses prevented us from generalizing our results from this second survey. We concluded that decision-making regarding presymptomatic testing seems to be genuinely autonomous, since after genetic counseling half the individuals who asked for presymptomatic testing decided in favor and half decided against it; general characteristics of Brazilians who sought presymptomatic testing were similar to many European samples studied previously; and individuals at risk for SCA3 may be at greater risk of depression. Although no clear-cut reason emerged for rejection of follow-up psychological sessions after presymptomatic testing, this finding suggests adjustments to our presymptomatic testing program are necessary.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Actitud Frente a la Salud
/
Pruebas Genéticas
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Predisposición Genética a la Enfermedad
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Trastornos Heredodegenerativos del Sistema Nervioso
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Toma de Decisiones
Tipo de estudio:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Qualitative_research
/
Risk_factors_studies
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
J Genet Couns
Asunto de la revista:
GENETICA MEDICA
Año:
2012
Tipo del documento:
Article