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Rodrigues CS de Oliveira VZ Camargo G Osório CM de Castilhos RM Saraiva-Pereira ML Schuler-Faccini L Jardim LB 《Journal of genetic counseling》2012,21(1):101-112
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. 相似文献
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