Clinical genetics and public policies : how should rare diseases be managed?

Detalhes bibliográficos
Autor(a) principal: Schwartz, Ida Vanessa Doederlein
Data de Publicação: 2014
Outros Autores: Souza, Monica Vinhas de, Leivas, Paulo Gilberto Cogo, Faccini, Lavinia Schuler
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/158343
Resumo: The implementation of a specific policy for rare diseases in the Brazilian Unified Health System presents challenges in terms of its rationale. Recognizing the importance of rarity in the context of public health means understanding genetics as one of the dimensions of disease and accepting that Brazil is undergoing a period of transition in health indicators. Although most rare diseases lack pharmacological treatment and genetic counseling constitutes the best strategy for their prevention, the cost of “orphan drugs” and their consequent lack of cost-effectiveness are still claimed as hurdles to the implementation of public policies in this field. Epidemiological aspects should not be used as isolated criteria for prioritization in public policies.
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spelling Schwartz, Ida Vanessa DoederleinSouza, Monica Vinhas deLeivas, Paulo Gilberto CogoFaccini, Lavinia Schuler2017-05-23T02:26:38Z20142357-9730http://hdl.handle.net/10183/158343000953674The implementation of a specific policy for rare diseases in the Brazilian Unified Health System presents challenges in terms of its rationale. Recognizing the importance of rarity in the context of public health means understanding genetics as one of the dimensions of disease and accepting that Brazil is undergoing a period of transition in health indicators. Although most rare diseases lack pharmacological treatment and genetic counseling constitutes the best strategy for their prevention, the cost of “orphan drugs” and their consequent lack of cost-effectiveness are still claimed as hurdles to the implementation of public policies in this field. Epidemiological aspects should not be used as isolated criteria for prioritization in public policies.application/pdfengClinical and Biomedical Research. Vol. 34, no. 2 (2014), p. 122-131Doenças rarasMedicamentos órfãosMedical geneticsOrphan drugsRare diseasesClinical genetics and public policies : how should rare diseases be managed?info:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000953674.pdf000953674.pdfTexto completo (inglês)application/pdf275089http://www.lume.ufrgs.br/bitstream/10183/158343/1/000953674.pdffa71025a2758604a05ed9aa1364006d0MD51TEXT000953674.pdf.txt000953674.pdf.txtExtracted Texttext/plain43863http://www.lume.ufrgs.br/bitstream/10183/158343/2/000953674.pdf.txt6e1f4289e5451f918852646ce75b669fMD52THUMBNAIL000953674.pdf.jpg000953674.pdf.jpgGenerated Thumbnailimage/jpeg1837http://www.lume.ufrgs.br/bitstream/10183/158343/3/000953674.pdf.jpg77f43c58bc4afaf8660c1bf16167ededMD5310183/1583432021-09-18 04:49:50.395536oai:www.lume.ufrgs.br:10183/158343Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2021-09-18T07:49:50Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Clinical genetics and public policies : how should rare diseases be managed?
title Clinical genetics and public policies : how should rare diseases be managed?
spellingShingle Clinical genetics and public policies : how should rare diseases be managed?
Schwartz, Ida Vanessa Doederlein
Doenças raras
Medicamentos órfãos
Medical genetics
Orphan drugs
Rare diseases
title_short Clinical genetics and public policies : how should rare diseases be managed?
title_full Clinical genetics and public policies : how should rare diseases be managed?
title_fullStr Clinical genetics and public policies : how should rare diseases be managed?
title_full_unstemmed Clinical genetics and public policies : how should rare diseases be managed?
title_sort Clinical genetics and public policies : how should rare diseases be managed?
author Schwartz, Ida Vanessa Doederlein
author_facet Schwartz, Ida Vanessa Doederlein
Souza, Monica Vinhas de
Leivas, Paulo Gilberto Cogo
Faccini, Lavinia Schuler
author_role author
author2 Souza, Monica Vinhas de
Leivas, Paulo Gilberto Cogo
Faccini, Lavinia Schuler
author2_role author
author
author
dc.contributor.author.fl_str_mv Schwartz, Ida Vanessa Doederlein
Souza, Monica Vinhas de
Leivas, Paulo Gilberto Cogo
Faccini, Lavinia Schuler
dc.subject.por.fl_str_mv Doenças raras
Medicamentos órfãos
topic Doenças raras
Medicamentos órfãos
Medical genetics
Orphan drugs
Rare diseases
dc.subject.eng.fl_str_mv Medical genetics
Orphan drugs
Rare diseases
description The implementation of a specific policy for rare diseases in the Brazilian Unified Health System presents challenges in terms of its rationale. Recognizing the importance of rarity in the context of public health means understanding genetics as one of the dimensions of disease and accepting that Brazil is undergoing a period of transition in health indicators. Although most rare diseases lack pharmacological treatment and genetic counseling constitutes the best strategy for their prevention, the cost of “orphan drugs” and their consequent lack of cost-effectiveness are still claimed as hurdles to the implementation of public policies in this field. Epidemiological aspects should not be used as isolated criteria for prioritization in public policies.
publishDate 2014
dc.date.issued.fl_str_mv 2014
dc.date.accessioned.fl_str_mv 2017-05-23T02:26:38Z
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dc.relation.ispartof.pt_BR.fl_str_mv Clinical and Biomedical Research. Vol. 34, no. 2 (2014), p. 122-131
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