Original Research

Journal of Genetic Counseling

, Volume 21, Issue 1, pp 101-112

Presymptomatic Testing for Neurogenetic Diseases in Brazil: Assessing Who Seeks and Who Follows through with Testing

  • Caroline Santa Maria RodriguesAffiliated withPostgraduate Programs of Medical Sciences, Universidade Federal do Rio Grande do Sul
  • , Viviane Ziebell de OliveiraAffiliated withPsychology Services, Hospital de Clínicas de Porto Alegre
  • , Gabriela CamargoAffiliated withPostgraduate Programs of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul
  • , Claudio  Maria da Silva OsórioAffiliated withDepartment of Psychiatry and Legal Medicine, Universidade Federal do Rio Grande do Sul
  • , Raphael Machado de CastilhosAffiliated withPostgraduate Programs of Medical Sciences, Universidade Federal do Rio Grande do SulMedical Genetics, Hospital de Clínicas de Porto Alegre
  • , Maria Luiza Saraiva-PereiraAffiliated withPostgraduate Programs of Medical Sciences, Universidade Federal do Rio Grande do SulPostgraduate Programs of Genetics and Molecular Biology, Universidade Federal do Rio Grande do SulDepartment of Biochemistry, Universidade Federal do Rio Grande do SulMedical Genetics, Hospital de Clínicas de Porto Alegre
  • , Lavínia Schuler-FacciniAffiliated withPostgraduate Programs of Genetics and Molecular Biology, Universidade Federal do Rio Grande do SulDepartment of Genetics, Universidade Federal do Rio Grande do SulMedical Genetics, Hospital de Clínicas de Porto Alegre
  • , Laura Bannach JardimAffiliated withPostgraduate Programs of Medical Sciences, Universidade Federal do Rio Grande do SulPostgraduate Programs of Genetics and Molecular Biology, Universidade Federal do Rio Grande do SulDepartment of Internal Medicine, Universidade Federal do Rio Grande do SulMedical Genetics, Hospital de Clínicas de Porto Alegre Email author 

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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.

Keywords

Presymptomatic testing Spinocerebellar ataxias Huntington’s disease Transtyrretin amyloidosis Machado Joseph disease Genetic counseling