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Presymptomatic Testing for Neurogenetic Diseases in Brazil: Assessing Who Seeks and Who Follows through with Testing
Author(s) -
Rodrigues Caroline Santa Maria,
Oliveira Viviane Ziebell,
Camargo Gabriela,
Osório Claudio Maria da Silva,
Castilhos Raphael Machado,
SaraivaPereira Maria Luiza,
SchulerFaccini Lavínia,
Jardim Laura Bannach
Publication year - 2012
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-011-9383-8
Subject(s) - genetic counseling , genetic testing , medicine , spinocerebellar ataxia , public health , disease , carrier testing , dna testing , clinical psychology , predictive testing , family medicine , test (biology) , psychiatry , pathology , genetics , pregnancy , paleontology , fetus , prenatal diagnosis , biology
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.