期刊
JOURNAL OF GENETIC COUNSELING
卷 21, 期 1, 页码 101-112出版社
SPRINGER
DOI: 10.1007/s10897-011-9383-8
关键词
Presymptomatic testing; Spinocerebellar ataxias; Huntington's disease; Transtyrretin amyloidosis; Machado Joseph disease; Genetic counseling
资金
- Comissao Nacional de Pesquisa (CNPq)
- Comissao de Aperfeicoamento do Pessoal de Ensino Superior (CAPES)
- Fundacao de Amparo a Pesquisa do Rio Grande do Sul (FAPERGS), Brazil
- Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre HCPA (FIPE-HCPA)
- Instituto Nacional de Genetica Medica Populacional (INAGEMP)
- Instituto de Cooperacao em Ciencia e Tecnologia Internacional (ICCTI), Portugal
- CAPES
- CNPq, Brazil
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.
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