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

Autor: Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, Mariana Rico-Restrepo, Edmar Zanoteli, Mayana Zatz, Roberto Giugliani
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: International Journal for Equity in Health, Vol 22, Iss 1, Pp 1-10 (2023)
Druh dokumentu: article
ISSN: 1475-9276
DOI: 10.1186/s12939-022-01809-y
Popis: Abstract 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.
Databáze: Directory of Open Access Journals
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