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

International Journal for Equity in Health

Review

Mariana Rico-Restrepo¹  Edmar Zanoteli²  João Bosco Oliveira³  Mayana Zatz⁴  Carolina Fischinger Moura de Souza⁵  Têmis Maria Félix⁵  Roberto Giugliani⁶ 

[1] Americas Health Foundation, Bogota, Colombia;Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil;Hospital Israelita Albert Einstein, São Paulo, Brazil;Human Genome and Stem-cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, Brazil;Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90,035–903, Porto Alegre, Brazil;Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90,035–903, Porto Alegre, Brazil;House of Rares, Porto Alegre, Rio Grande do Sul, Brazil;

关键词: Brazil;    Rare diseases;    Diagnosis;    Exome sequencing;    Screening;    Whole genome sequencing;    Genomics;   

DOI  :  10.1186/s12939-022-01809-y

 received in 2022-09-16, accepted in 2022-12-14,  发布年份 2022

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY   
© The Author(s) 2023

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