title: Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing.
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.
authors: Postgraduate Programs of Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors: Caroline Santa Maria
authors: CS
authors: Rodrigues
authors: Viviane Ziebell
authors: VZ
authors: de Oliveira
authors: Gabriela
authors: G
authors: Camargo
authors: Claudio Maria da Silva
authors: CM
authors: Osório
authors: Raphael Machado
authors: RM
authors: de Castilhos
authors: Maria Luiza
authors: ML
authors: Saraiva-Pereira
authors: Lavínia
authors: L
authors: Schuler-Faccini
authors: Laura Bannach
authors: LB
authors: Jardim
mesh_terms: D000223:Adaptation, Psychological; D000328:Adult; D001294:Attitude to Health; D001938:Brazil / Q000453:epidemiology; D003657:Decision Making; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000523:psychology*; D005820:Genetic Testing / Q000379:methods / Q000706:statistics & numerical data*; D015438:Health Behavior; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D012423:Rural Health / Q000706:statistics & numerical data; D011795:Surveys and Questionnaires; D055815:Young Adult