Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/273859 |
Resumo: | Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10-13 million people live with these conditions. Increased use of chromosome microarray assays, exome sequencing, and whole genome sequencing as first-tier testing techniques in suitable indications can shorten the diagnostic odyssey, eliminate unnecessary tests, procedures, and treatments, and lower healthcare expenditures. A selected panel of Brazilian experts in fields related to rare diseases was provided with a series of relevant questions to address before a multi-day conference. Within this conference, each narrative was discussed and edited through numerous rounds of discussion until agreement was achieved. The widespread adoption of exome sequencing and whole genome sequencing in Brazil is limited by various factors: cost and lack of funding, reimbursement, awareness and education, specialist shortages, and policy issues. To reduce the burden of rare diseases and increase early diagnosis, the Brazilian healthcare authorities/government must address the barriers to equitable access to early diagnostic methods for these conditions. Recommendations are provided, including broadening approved testing indications, increasing awareness and education efforts, increasing specialist training opportunities, and ensuring sufficient funding for genetic testing. |
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Felix, Temis MariaSouza, Carolina Fischinger Moura deOliveira, João BoscoRestrepo, Mariana RicoZanoteli, EdmarZatz, MayanaGiugliani, Roberto2024-03-19T05:06:12Z20231475-9276http://hdl.handle.net/10183/273859001198085Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10-13 million people live with these conditions. Increased use of chromosome microarray assays, exome sequencing, and whole genome sequencing as first-tier testing techniques in suitable indications can shorten the diagnostic odyssey, eliminate unnecessary tests, procedures, and treatments, and lower healthcare expenditures. A selected panel of Brazilian experts in fields related to rare diseases was provided with a series of relevant questions to address before a multi-day conference. Within this conference, each narrative was discussed and edited through numerous rounds of discussion until agreement was achieved. The widespread adoption of exome sequencing and whole genome sequencing in Brazil is limited by various factors: cost and lack of funding, reimbursement, awareness and education, specialist shortages, and policy issues. To reduce the burden of rare diseases and increase early diagnosis, the Brazilian healthcare authorities/government must address the barriers to equitable access to early diagnostic methods for these conditions. Recommendations are provided, including broadening approved testing indications, increasing awareness and education efforts, increasing specialist training opportunities, and ensuring sufficient funding for genetic testing.application/pdfengInternational journal for equity in health. London. vol. 22 (2023), 11, 10 p.Sequenciamento do exomaTestes genéticosDoenças rarasSequenciamento completo do genomaBrasilBrazilDiagnosisExome sequencingGenomicsRare diseasesScreeningWhole genome sequencingChallenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspectiveEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001198085.pdf.txt001198085.pdf.txtExtracted Texttext/plain49459http://www.lume.ufrgs.br/bitstream/10183/273859/2/001198085.pdf.txtb5da332b5a2130cdb020cf367b45303aMD52ORIGINAL001198085.pdfTexto completo (inglês)application/pdf2723033http://www.lume.ufrgs.br/bitstream/10183/273859/1/001198085.pdf6eca3f59fbd909994a340c6ee0fc12b9MD5110183/2738592024-03-20 04:50:56.6207oai:www.lume.ufrgs.br:10183/273859Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2024-03-20T07:50:56Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective |
title |
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective |
spellingShingle |
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective Felix, Temis Maria Sequenciamento do exoma Testes genéticos Doenças raras Sequenciamento completo do genoma Brasil Brazil Diagnosis Exome sequencing Genomics Rare diseases Screening Whole genome sequencing |
title_short |
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective |
title_full |
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective |
title_fullStr |
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective |
title_full_unstemmed |
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective |
title_sort |
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective |
author |
Felix, Temis Maria |
author_facet |
Felix, Temis Maria Souza, Carolina Fischinger Moura de Oliveira, João Bosco Restrepo, Mariana Rico Zanoteli, Edmar Zatz, Mayana Giugliani, Roberto |
author_role |
author |
author2 |
Souza, Carolina Fischinger Moura de Oliveira, João Bosco Restrepo, Mariana Rico Zanoteli, Edmar Zatz, Mayana Giugliani, Roberto |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Felix, Temis Maria Souza, Carolina Fischinger Moura de Oliveira, João Bosco Restrepo, Mariana Rico Zanoteli, Edmar Zatz, Mayana Giugliani, Roberto |
dc.subject.por.fl_str_mv |
Sequenciamento do exoma Testes genéticos Doenças raras Sequenciamento completo do genoma Brasil |
topic |
Sequenciamento do exoma Testes genéticos Doenças raras Sequenciamento completo do genoma Brasil Brazil Diagnosis Exome sequencing Genomics Rare diseases Screening Whole genome sequencing |
dc.subject.eng.fl_str_mv |
Brazil Diagnosis Exome sequencing Genomics Rare diseases Screening Whole genome sequencing |
description |
Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10-13 million people live with these conditions. Increased use of chromosome microarray assays, exome sequencing, and whole genome sequencing as first-tier testing techniques in suitable indications can shorten the diagnostic odyssey, eliminate unnecessary tests, procedures, and treatments, and lower healthcare expenditures. A selected panel of Brazilian experts in fields related to rare diseases was provided with a series of relevant questions to address before a multi-day conference. Within this conference, each narrative was discussed and edited through numerous rounds of discussion until agreement was achieved. The widespread adoption of exome sequencing and whole genome sequencing in Brazil is limited by various factors: cost and lack of funding, reimbursement, awareness and education, specialist shortages, and policy issues. To reduce the burden of rare diseases and increase early diagnosis, the Brazilian healthcare authorities/government must address the barriers to equitable access to early diagnostic methods for these conditions. Recommendations are provided, including broadening approved testing indications, increasing awareness and education efforts, increasing specialist training opportunities, and ensuring sufficient funding for genetic testing. |
publishDate |
2023 |
dc.date.issued.fl_str_mv |
2023 |
dc.date.accessioned.fl_str_mv |
2024-03-19T05:06:12Z |
dc.type.driver.fl_str_mv |
Estrangeiro info:eu-repo/semantics/article |
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info:eu-repo/semantics/publishedVersion |
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http://hdl.handle.net/10183/273859 |
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1475-9276 |
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001198085 |
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1475-9276 001198085 |
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http://hdl.handle.net/10183/273859 |
dc.language.iso.fl_str_mv |
eng |
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dc.relation.ispartof.pt_BR.fl_str_mv |
International journal for equity in health. London. vol. 22 (2023), 11, 10 p. |
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openAccess |
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