Clusters of rare disorders and congenital anomalies in South America

• Published in: Revista Panamericana de Salud Pública
• Main Authors: Augusto César Cardoso-dos-Santos, Guillermo Reales, Lavinia Schuler-Faccini
• Format: Article in Journal/Newspaper
• Language: English; Spanish; Portuguese
• Published: Pan American Health Organization 2023
• Subjects: disease hotspot; rare diseases; congenital abnormalities; systematic review; south america; Medicine; R; Arctic medicine. Tropical medicine; RC955-962; Public aspects of medicine; RA1-1270; Arctic
• Online Access: https://doi.org/10.26633/RPSP.2023.98; https://doaj.org/article/538ff90cde8545b99e960cd12eff3d84

Objective. To map geographic clusters of rare disorders and congenital anomalies reported in South America. Methods. Qualitative systematic review conducted in Medline/PubMed, Lilacs, and Scielo electronic databases to identify studies meeting eligibility criteria. The strategy resulted in 1 672 unique articles, from which 164 were selected for full reading by a pair of reviewers. Results. Fifty-five articles reported at least one cluster of genetic disorders or congenital anomalies in South American territory. From these papers, 122 clusters were identified, of which half (61) were related to autosomal recessive disorders. Sixty-five (53.3%) of the clusters were located in Brazil. Conclusions. The results of the review reinforce that rare diseases and congenital anomalies can occur in a non-random way in space, which is discussed in the perspective of the complex history of formation, social organization, and genetic structure of the South American population. Mapping clusters in population medical genetics can be an important public health tool, given that such places concentrate cases of rare diseases that frequently require multiprofessional, specialized care. Therefore, these results can support important agendas in public health related to rare diseases and congenital anomalies, such as health promotion and surveillance.