Abstract
Spinocerebellar ataxias and Huntington disease are heritable, adult onset, neurodegenerative disorders of movement. Both are autosomal dominant and caused by expansions in trinucleotide sequences in several genes. Because these expansions are associated with an almost complete penetrance, genetic tests are available at the diagnostic and predictive level. In this study, we describe the expectations and issues raised during pre-test interviews for genetic counselling for these diseases. Data from pre-test interviews with 97 patients and at-risk relatives for spinocerebellar ataxia (SCA) or Huntington disease was comprised of close-ended questions (demographics, personal and current disease history) and open-ended questions, where individuals were asked to describe their hopes and expectations on the genetic counselling evaluation and also their degree of knowledge about genetics and medical genetics. Amongst the main expectations identified in patients and at-risk relatives, issues related to the aetiological diagnosis and/or disclosure of the at-risk status were those most frequently mentioned (57 %). Improvement in quality of life was another identified issue (17 %). Interestingly, the issue of inheritance/transmission was identified as the main expectation by a minority of individuals (3 %). Pre-test interviews are valuable tools to identify issues raised by consultands and promote a better communication between the patient, family and the genetic counselling team.
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Acknowledgments
FRV is a recipient of the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) grant 486599/2012–4 and Fundação de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ) grant E26/110.535/2012.
Ethical statement
The present study was approved by the local Institutional Review Board. Subjects were included in the study after information, discussion and signature of an informed consent form. The authors declare they have no conflicts of interest.
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This article is part of the special issue on “Genetics and Ethics in Latin America”.
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do Nascimento Marinho, A.S., de Faria Domingues de Lima, M.A. & Vargas, F.R. Analysis of pre-test interviews in a cohort of Brazilian patients with movement disorders. J Community Genet 6, 259–264 (2015). https://doi.org/10.1007/s12687-015-0235-3
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DOI: https://doi.org/10.1007/s12687-015-0235-3