Mostrar registro simples

dc.contributor.authorFelix, Temis Mariapt_BR
dc.contributor.authorSouza, Carolina Fischinger Moura dept_BR
dc.contributor.authorOliveira, João Boscopt_BR
dc.contributor.authorRestrepo, Mariana Ricopt_BR
dc.contributor.authorZanoteli, Edmarpt_BR
dc.contributor.authorZatz, Mayanapt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.date.accessioned2024-03-19T05:06:12Zpt_BR
dc.date.issued2023pt_BR
dc.identifier.issn1475-9276pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/273859pt_BR
dc.description.abstractEarly 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.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofInternational journal for equity in health. London. vol. 22 (2023), 11, 10 p.pt_BR
dc.rightsOpen Accessen
dc.subjectSequenciamento do exomapt_BR
dc.subjectBrazilen
dc.subjectTestes genéticospt_BR
dc.subjectDiagnosisen
dc.subjectDoenças raraspt_BR
dc.subjectExome sequencingen
dc.subjectGenomicsen
dc.subjectSequenciamento completo do genomapt_BR
dc.subjectRare diseasesen
dc.subjectBrasilpt_BR
dc.subjectScreeningen
dc.subjectWhole genome sequencingen
dc.titleChallenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspectivept_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001198085pt_BR
dc.type.originEstrangeiropt_BR


Thumbnail
   

Este item está licenciado na Creative Commons License

Mostrar registro simples