Journal of Genetic Counseling

, Volume 21, Issue 1, pp 101–112 | Cite as

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

  • Caroline Santa Maria Rodrigues
  • Viviane Ziebell de Oliveira
  • Gabriela Camargo
  • Claudio  Maria da Silva Osório
  • Raphael Machado de Castilhos
  • Maria Luiza Saraiva-Pereira
  • Lavínia Schuler-Faccini
  • Laura Bannach Jardim
Original Research

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 

Notes

Acknowledgements

We are grateful to the individuals who agreed to participate in this study. The present work was partially supported by the Comissão Nacional de Pesquisa (CNPq), Comissão de Aperfeiçoamento do Pessoal de Ensino Superior (CAPES), Fundação de Amparo à Pesquisa do Rio Grande do Sul (FAPERGS), Brazil, Fundo de Incentivo à Pesquisa do Hospital de Clínicas de Porto Alegre HCPA (FIPE-HCPA), and Instituto Nacional de Genética Médica Populacional (INAGEMP). A grant was given by Instituto de Cooperação em Ciência e Tecnologia Internacional (ICCTI), Portugal, and CAPES. Profs. Jardim, Saraiva-Pereira and Schuler-Faccini are supported by CNPq, Brazil.

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Copyright information

© National Society of Genetic Counselors, Inc. 2011

Authors and Affiliations

  • Caroline Santa Maria Rodrigues
    • 1
  • Viviane Ziebell de Oliveira
    • 8
  • Gabriela Camargo
    • 2
  • Claudio  Maria da Silva Osório
    • 3
  • Raphael Machado de Castilhos
    • 1
    • 7
  • Maria Luiza Saraiva-Pereira
    • 1
    • 2
    • 4
    • 7
  • Lavínia Schuler-Faccini
    • 2
    • 5
    • 7
  • Laura Bannach Jardim
    • 1
    • 2
    • 6
    • 7
  1. 1.Postgraduate Programs of Medical SciencesUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  2. 2.Postgraduate Programs of Genetics and Molecular BiologyUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  3. 3.Department of Psychiatry and Legal MedicineUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  4. 4.Department of BiochemistryUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  5. 5.Department of GeneticsUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  6. 6.Department of Internal MedicineUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  7. 7.Medical GeneticsHospital de Clínicas de Porto AlegrePorto AlegreBrazil
  8. 8.Psychology ServicesHospital de Clínicas de Porto AlegrePorto AlegreBrazil

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