Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey

Abstract Background The diagnostic odyssey of individuals with rare diseases is prolonged and associated with clinical, emotional, and financial burden. In Brazil, data on diagnostic delays and their determinants remain scarce. Objective This study aims to characterize the diagnostic odyssey of individuals with rare diseases using data from the Brazilian Rare Diseases Network (RARAS). Methods This descriptive cross-sectional study analyzed ambispective data collected from 2018-2025 across RARAS centers nationwide. Diagnostic odyssey was defined as the time between symptom onset and definitive diagnosis. Prenatal and newborn screening diagnoses were excluded. Sociodemographic, clinical and etiological data were collected through a standardized REDCap-based instrument. Results Among 18,625 unique participants, 12,048 had confirmed diagnoses and 5,984 met criteria for diagnostic odyssey analysis. The mean diagnostic interval was 6.21 years (± 8.41; median 2.94, IQR 0.80–8.13), indicating substantial heterogeneity. Longer delays were observed in individuals with symptom onset during adolescence. Patients referred during hospital admission experienced shorter diagnostic intervals. Regional differences were significant ( p <0.001), with longer intervals in the Southeast region. Mean time to diagnosis ranged from 2.01 (± 2.89) years (achondroplasia) to 16.40 (± 12.59) years (hereditary angioedema). Patients consulted a mean of 5.32 (± 9.63) physicians and accessed 3.15 (± 4.96) healthcare services before diagnosis. Diagnostic intervals varied by race/ethnicity and etiological category, with longer delays among those with molecular diagnoses, while no association was observed with socioeconomic class. Conclusion The diagnostic odyssey for rare diseases in Brazil remains prolonged and heterogeneous, reflecting structural disparities, healthcare fragmentation, and diagnostic complexity. These findings suggest that delays are not driven solely by limited access to advanced diagnostics, but also by barriers in early recognition, referral pathways, and care coordination, underscoring the need for integrated strategies across the health system.

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Journal
Journal of Community Genetics
Published
2026-09-15
DOI
https://doi.org/10.1007/s12687-026-00939-y
Primary Topic
Genomics and Rare Diseases
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article
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article

Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey

Flávia Reseda Brandão, Milena Coelho Fernandes Caldato, Ney Boa‐Sorte, Faradiba Sarquis Serpa et al.
Journal of Community Genetics
Genomics and Rare Diseases
article

Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey

Flávia Reseda Brandão, Milena Coelho Fernandes Caldato, Ney Boa‐Sorte, Faradiba Sarquis Serpa, Juan Clinton Llerena, Rayana Elias Maia, Mariana Lima Scortegagna, Ida Vanessa Döederlein Schwartz, Anete Sevciovic Grumach, Solange Oliveira Rodrigues Valle, Alberto Vergara, Gabriella Zanin Fighera, Raquel Tavares Boy da Silva, Têmis Maria Félix, Tatiana Amorim, Domingos Alves, Marcela Câmara Machado‐Costa, Débora Gusmão Melo, Angelina Xavier Acosta, Isabella Lopes Monlleó, Ellaine Dóris Fernandes Carvalho, Liane de Rosso Giuliani, Bibiana Mello de Oliveira, Paulo Ricardo Gazzola Zen, Carlos Henrique Paiva Grangeiro, Vânia Mesquita Gadelha Prazeres, Erlane Marques Ribeiro, Marcial Francis Galera, Maria Denise Fernandes Carvalho de Andrade, Thaís Bomfim Teixeira, Sandra Obikawa Kyosen, Maria Teresinha de Oliveira Cardoso, JOYCEANE ALVES DE OLIVEIRA, Karina Carvalho Donis, Camila Ferreira Ramos, Cláudia Fernandes Lorea, Mara Lúcia Schmitz Ferreira Santos, Monique Sartori Broch, Chong Ae Kim, Ana María Martins, B. Ribeiro, Louise Lapagesse de Camargo Pinto, Paula Frassinetti Vasconcelos de Medeiros, Marcia Maria Costa Giacon Giusti, M.C. Alonso, Isadora Viegas, Natalya Goncalves Pereira, Luiz Carlos Santana da Silva, Debora Michelatto, Denise Christofolini, Angélica Piovesana, Raras Network Group, Carolina Peçaibes de Oliveira, Laíse Pauletti Barp, Victor Evangelista de Faria Ferraz
article en

Abstract

Abstract Background The diagnostic odyssey of individuals with rare diseases is prolonged and associated with clinical, emotional, and financial burden. In Brazil, data on diagnostic delays and their determinants remain scarce. Objective This study aims to characterize the diagnostic odyssey of individuals with rare diseases using data from the Brazilian Rare Diseases Network (RARAS). Methods This descriptive cross-sectional study analyzed ambispective data collected from 2018-2025 across RARAS centers nationwide. Diagnostic odyssey was defined as the time between symptom onset and definitive diagnosis. Prenatal and newborn screening diagnoses were excluded. Sociodemographic, clinical and etiological data were collected through a standardized REDCap-based instrument. Results Among 18,625 unique participants, 12,048 had confirmed diagnoses and 5,984 met criteria for diagnostic odyssey analysis. The mean diagnostic interval was 6.21 years (± 8.41; median 2.94, IQR 0.80–8.13), indicating substantial heterogeneity. Longer delays were observed in individuals with symptom onset during adolescence. Patients referred during hospital admission experienced shorter diagnostic intervals. Regional differences were significant ( p <0.001), with longer intervals in the Southeast region. Mean time to diagnosis ranged from 2.01 (± 2.89) years (achondroplasia) to 16.40 (± 12.59) years (hereditary angioedema). Patients consulted a mean of 5.32 (± 9.63) physicians and accessed 3.15 (± 4.96) healthcare services before diagnosis. Diagnostic intervals varied by race/ethnicity and etiological category, with longer delays among those with molecular diagnoses, while no association was observed with socioeconomic class. Conclusion The diagnostic odyssey for rare diseases in Brazil remains prolonged and heterogeneous, reflecting structural disparities, healthcare fragmentation, and diagnostic complexity. These findings suggest that delays are not driven solely by limited access to advanced diagnostics, but also by barriers in early recognition, referral pathways, and care coordination, underscoring the need for integrated strategies across the health system.

Journal of Community GeneticsVol. 17(5)
Universidade Estadual do Ceará (BR), Universidade Federal do Rio Grande do Sul (BR), Escola Bahiana de Medicina e Saúde Pública (BR), Universidade Federal de Ciências da Saúde de Porto Alegre (BR), Universidade Evangelica de Goiás (BR), Universidade Estadual de Goiás (BR), Universidade do Estado do Rio de Janeiro (BR), Universidade Federal de Campina Grande (BR), Fundação de Medicina Tropical (BR), Complexo Hospitalar Universitário Professor Edgard Santos (BR), Hospital Universitário - Universidade Federal de Juiz de Fora (BR), Hospital Universitário de Santa Maria (BR), Hospital de Clínicas de Porto Alegre (BR), Hospital Universitário Pedro Ernesto (BR), Centro Universitário do Pará (BR), Instituto Nacional de Investigação Agrária e Veterinária (PT), Hospital Universitário Walter Cantídio (BR), Hospital Erasto Gaertner (BR), Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória (BR), Centro de Referência em Informação Ambiental (BR), Hospital Universitário Lauro Wanderley (BR), Instituto Nacional de Saúde (MZ), Hospital Universitário de Brasília (BR), Hospital Infantil Joana de Gusmão (BR), Hospital Universitário Clementino Fraga Filho (BR), Hospital Infantil Albert Sabin (BR), Associação Brasileira de Saúde Coletiva (BR), Faculdade de Medicina do ABC (BR), Instituto do Coração (PT), Clinics Hospital of Ribeirão Preto (BR), Fundação Hospitalar do Estado de Minas Gerais (BR), Hospital São Paulo (BR), Fundação de Tecnologia do Estado do Acre (BR), Universidade Salvador (BR), Universidade Federal do Pará (BR), Universidade Federal de Alagoas (BR), Universidade Federal de São Paulo (BR)
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Genomics and Rare Diseases
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