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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective

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 t...

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Autores principales: Félix, Têmis Maria, Fischinger Moura de Souza, Carolina, Oliveira, João Bosco, Rico-Restrepo, Mariana, Zanoteli, Edmar, Zatz, Mayana, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837951/
https://www.ncbi.nlm.nih.gov/pubmed/36639662
http://dx.doi.org/10.1186/s12939-022-01809-y
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author Félix, Têmis Maria
Fischinger Moura de Souza, Carolina
Oliveira, João Bosco
Rico-Restrepo, Mariana
Zanoteli, Edmar
Zatz, Mayana
Giugliani, Roberto
author_facet Félix, Têmis Maria
Fischinger Moura de Souza, Carolina
Oliveira, João Bosco
Rico-Restrepo, Mariana
Zanoteli, Edmar
Zatz, Mayana
Giugliani, Roberto
author_sort Félix, Têmis Maria
collection PubMed
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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12939-022-01809-y.
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spelling pubmed-98379512023-01-14 Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective Félix, Têmis Maria Fischinger Moura de Souza, Carolina Oliveira, João Bosco Rico-Restrepo, Mariana Zanoteli, Edmar Zatz, Mayana Giugliani, Roberto Int J Equity Health Review 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12939-022-01809-y. BioMed Central 2023-01-13 /pmc/articles/PMC9837951/ /pubmed/36639662 http://dx.doi.org/10.1186/s12939-022-01809-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Review
Félix, Têmis Maria
Fischinger Moura de Souza, Carolina
Oliveira, João Bosco
Rico-Restrepo, Mariana
Zanoteli, Edmar
Zatz, Mayana
Giugliani, Roberto
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
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_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_sort challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in brazil: an expert perspective
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9837951/
https://www.ncbi.nlm.nih.gov/pubmed/36639662
http://dx.doi.org/10.1186/s12939-022-01809-y
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