Journal of Community Genetics最新文献

{"title":"Teaching and training of human resources for genetics and genomics in Brazil.","authors":"Fernanda Teresa de Lima, Maria Angélica de Faria Domingues de Lima, Patrícia Santana Correia, Rachel Sayuri Honjo, Rayana Elias Maia, Sandra Obikawa Kyosen, Débora Gusmão Melo","doi":"10.1007/s12687-024-00726-7","DOIUrl":"10.1007/s12687-024-00726-7","url":null,"abstract":"<p><p>This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics in Brazil. We presented the national scenario of teaching genetics in medical undergraduate and other health courses. We discussed the training of medical geneticists through medical residency and addressed the training in genetics of physicians from specialties other than genetics. We examined the training of health professionals specializing in genetics through lato sensu and stricto sensu postgraduate programs and presented the proposals for multi-professional residency in genetic counseling and genetics and genomics that are currently the subject of discussion in the country. Finally, we highlighted the importance of training primary health care professionals concerning genetics and genomics for the effective establishment of a line of care for individuals with genetic disorders in the Brazilian Unified Health System. Therefore, we provided a thorough overview of how genetics is (or is not) incorporated into professional training in a comprehensive public healthcare system such as the Brazilian.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"397-407"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Basic and translational research in rare diseases in low- and middle-income countries: challenges and solutions.","authors":"Graziella Rodrigues, Edina Poletto, Filippo Pinto E Vairo, Guilherme Baldo","doi":"10.1007/s12687-024-00759-y","DOIUrl":"10.1007/s12687-024-00759-y","url":null,"abstract":"<p><p>In this document, we discuss the main difficulties faced by investigators in low- and middle-income countries (LMICs) and propose potential solutions. Challenges include the scarcity of experts in rare disorders, higher costs of supplies, underfunding, and limited patient advocacy groups. Establishing collaborations among patient advocacy groups, governments, investigators, and other stakeholders to create action plans can address many of these issues and promote research into rare diseases.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"421-423"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil.","authors":"Larissa Siqueira Penna, Raphael Bruno Amemiya, Thiago Pires, Larissa Sousa Silva Bonasser, Leonardo Carvalheira, Cintia Fridman, Regina Celia Mingroni-Netto, Michel Satya Naslavsky, Ricardo di Lazzaro Filho","doi":"10.1007/s12687-024-00755-2","DOIUrl":"10.1007/s12687-024-00755-2","url":null,"abstract":"<p><p>Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside North America and Europe. Therefore, this study assesses the sociodemographic profile, motivations, and impacts of DTC-GT among Brazilian consumers. DTC-GT customers were invited to complete a 30-question online survey anonymously. Descriptive statistics and Chi-Square tests were used to analyze the data, with significant findings analyzed using post-hoc and correspondence analysis. This study comprised 1513 Brazilian DTC-GT consumers with a mean age of 42 years old and mostly female (60.8%). Participants' primary motivation for purchasing the test was to learn about their genetic predispositions to diseases (87.2%) followed by biogeographical ancestry (86.2%). Fewer than 20% of respondents reported consulting a healthcare professional due to the test results (18.4%), and most consumers felt confident in independently understanding the test results (66.9%), which was significantly associated with Health/Biological Sciences professional field (p < 0.001). Additionally, many customers felt glad (63.3%), and few felt worried after receiving their results (13.4%), particularly concerning health outcomes. Lifestyle changes included dietary adjustments (38.7%), regular health check-ups (24.2%) and increased physical activity (16.5%). Overall, 64.0% of respondents reported altering habits following test results. These findings contribute to understanding the motivations and impacts of DTC-GT among Brazilian consumers, indicating positive lifestyle changes and limited negative psychological impacts.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"467-475"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142733313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is Brazil following global trends in high-cost treatments? The case of Pompe Disease.","authors":"Bruna Bento Dos Santos, Cecília de Oliveira Carvalho Faria, Hérica Núbia Cardoso Cirilo, Alícia Dorneles Dornelles, Haliton Alves de Oliveira Junior, Ida Vanessa D Schwartz","doi":"10.1007/s12687-025-00770-x","DOIUrl":"10.1007/s12687-025-00770-x","url":null,"abstract":"<p><p>Access to high-cost drugs for rare diseases poses global challenges, especially in low- and middle-income countries. Pompe Disease (PD) exemplifies these challenges as a case study to analyze Brazil's approach to accessing high-cost therapies. This study aims to characterize access to high-cost drugs for rare diseases in Brazil using PD as a reference and to compare Brazil's approach with global trends in PD treatment. A documentary review on access to PD treatment within Brazil's Unified Health System (SUS) was conducted. This included health technology assessments (HTA) and regulatory decisions from Brazilian and international agencies. Data on the dispensing of alglucosidase alfa from the Brazilian Outpatient Information System (SIA/SUS; Jan 2020-May 2024) were analyzed and compared to previous budget impact estimates. Only alglucosidase alfa is covered by the SUS, and exclusively for Infantile-onset Pompe Disease (IOPD). Projections for vial usage in the SUS were overestimated. Key drivers of access include Ministry of Health policies, HTA recommendations, judiciary decisions, and industry actions. Brazil's access model shows partial alignment with global trends, but significant gaps remain. The study highlights systemic issues that are relevant to other rare diseases, offering insights and lessons for Brazil and other middle-income countries.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"455-466"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases.","authors":"Franciele Barbosa Trapp, Mariluce Riegel, Kristiane Michelin-Tirelli, Layzon Antonio Lemos da Silva, Gabrielle Dineck Iop, Fernanda Bender-Pasetto, Fernanda Medeiros Sebastião, Inamara da Silva Moraes, Franciele Fátima Lopes, Osmar Rachor Toledo Dos Santos, Fernanda da Rosa Pereira, Laysla Pedelhes Silva, Andrius Anselmi Luiz, Cleiton Amaral da Silva, Karen Daniela Piccoli Lucas, Alice Brinckmann Oliveira Netto, Carolina Serpa Brasil, Sandra Leistner, Ana Carolina Brusius-Facchin, Marion Deon, Gabriel Eduardo Santiago Civallero, Roberto Giugliani","doi":"10.1007/s12687-025-00805-3","DOIUrl":"10.1007/s12687-025-00805-3","url":null,"abstract":"<p><p>To contribute to the diagnosis of genetic metabolic diseases in Brazil, an innovative model of networks has been set up, aiming to provide information and testing of high-risk patients, free of charge, to doctors and services from Brazil and other countries. Particularly, our group set up the MPS (mucopolysaccharidoses), IEM (inborn errors of metabolism) and LSD (lysosomal storage diseases) networks. This paper describes the structure, services provided, and results obtained by the LSD Brazil Network (LBN) during its first 10 years of operation.The LBN has a core group that is responsible for the operation, guidance, logistics of sample collection and transportation, as well as test reports and information materials. The diagnostic investigation was performed in several laboratories affiliated to the program, all established in Porto Alegre, Brazil. The first ten years of operation of the LBN (2013-2022) were reviewed in detail. Over 10 years, 26,489 patients were investigated, and 27 LSDs were confirmed in 1,320 patients (4.98%). Comparing the first period of 5 years with the second one, there was a decrease in the number of requests, probably reflecting the impact of the COVID-19 pandemic. Interestingly, the same comparison indicated that there was an increase of 46% in the rate of diagnosis, possibly due to the improved selection of suspected cases. The model developed by the LBN, aiming to increase awareness and to remove barriers to diagnostic tests, suggests that the implementation of reference networks seems to be a suitable alternative to foster the diagnosis of LSDs, especially in developing countries, where resources and facilities are scarce.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"439-444"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Community genetics in Brazil- a 2025 perspective.","authors":"Roberto Giugliani, Dafne Dain Gandelman Horovitz","doi":"10.1007/s12687-025-00814-2","DOIUrl":"10.1007/s12687-025-00814-2","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"387"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Population molecular genetics in Brazil: From genomic databases and research to the implementation of precision medicine.","authors":"Thais C de Oliveira, Iscia Lopes-Cendes","doi":"10.1007/s12687-024-00752-5","DOIUrl":"10.1007/s12687-024-00752-5","url":null,"abstract":"<p><p>Precision medicine (PM) stands on the brink of revolutionizing medical practice throughout the world, holding significant potential for enhancing patient outcomes. However, its practical implementation, particularly in resource-limited countries, is not without challenges. The success of PM largely hinges on the availability of extensive datasets, including genetic and genomic information. This paper delves into the PM landscape and the current state of genetic and genomic testing in Brazil. We also shed light on the unique challenges posed by the country's diverse population and discuss ongoing initiatives to tackle these obstacles.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"409-420"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142669299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Redefining the approach to rare diseases: the experience of \"Casa dos Raros\" in Brazil.","authors":"Roberto Giugliani, Bibiana Mello de Oliveira, Bruna Baierle Guaraná, Tássia Tonon, Franciele Barbosa Trapp, Fernando Machado da Costa, Larissa Pozzebon da Silva, Guilherme Baldo, Mariluce Riegel-Giugliani, Fabrizio Barbosa, Antoine Daher, Carolina Fischinger Moura de Souza","doi":"10.1007/s12687-025-00771-w","DOIUrl":"10.1007/s12687-025-00771-w","url":null,"abstract":"<p><p>Rare diseases include 6,000-8,000 different conditions, over 70% of them having a genetic cause. Most cases have early manifestations (in childhood and adolescence), and just a small fraction (around 5%) has specific therapies available. Nevertheless, appropriate management measures contribute to improve the quality of life of patients and families. They affect up to 3.5-5.9% of the world's population and are recently attracting attention from international agencies such as the United Nations and the World Health Organization. In Brazil, a condition is considered rare when there are no more than 65 people affected in each 100,000 inhabitants and it is estimated that around 12 million people in the country may present one of these conditions, which represents a significant burden to the family and to the health care system. Despite concrete advances observed in the last decades, there are still significant unmet needs for persons living with rare diseases in Brazil. With the main aim of shortening the journey of patients with rare diseases in Brazil, we envisioned a model that involves comprehensive clinical and laboratorial multiprofessional evaluations, with intensive use of telemedicine and genomics. The model includes a strong activity in education, training and research, and has several parallel initiatives (biobank, registry, undiagnosed disease program, information services, extramural diagnostic support), in addition to strategic partnerships, that make the overall project stronger. This report describes the system in place at the pilot unit of Casa dos Raros (that started activities in 2023, in Porto Alegre, Brazil) and the stimulating preliminary results, which indicate a significant reduction in the diagnostic journey. This model, that operates as a charity and does not charge any fees to patients and families, will be replicated in other regions of Brazil, with the opening of a second unit planned to occur in the near future in Sao Paulo.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"477-487"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical research in rare diseases in Brazil: challenges and opportunities.","authors":"Larissa Pozzebon da Silva, Taiane Alves Vieira, Gabriela Leiria da Silveira, Roberto Giugliani","doi":"10.1007/s12687-025-00793-4","DOIUrl":"10.1007/s12687-025-00793-4","url":null,"abstract":"<p><p>This article provides a concise overview of the clinical research landscape concerning Rare Diseases in Brazil. Rare Diseases, affecting a small portion of the population, present a substantial public health concern. Estimates suggest that between 7 to 12 million Brazilians may be affected by these conditions. Despite incomplete epidemiological data on Rare Diseases in Brazil, collaborative efforts among various institutions are underway to address this gap. The Brazilian Policy of Comprehensive Care for People with Rare Diseases was launched in 2014 aiming to enhance diagnosis and follow-up care, thereby facilitating recruitment for clinical trials. The approval process for clinical studies in Brazil involves rigorous ethical evaluation by CEPs-Comitês de Ética em Pesquisa (Research Ethics Committees) and CONEP-Comissão Nacional de Ética em Pesquisa (National Commission on Ethics in Research), along with regulatory assessment by Anvisa-Agência Nacional de Vigilância Sanitária (the Brazilian Health Regulatory Agency). While timelines for approval can be lengthy, recent regulatory changes are streamlining the process. Despite challenges, conducting clinical research on Rare Diseases in Brazil offers unique opportunities for large, inclusive and diverse patient populations. The evolving regulatory landscape and collaborative initiatives hold promise for accelerating clinical trial participation and advancing therapeutic options for Rare Diseases, consequently improving patient outcomes and quality of life.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"425-430"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newborn screening in Brazil: realities and challenges.","authors":"Carolina Fischinger Moura de Souza, Tássia Tonon, Thiago Oliveira Silva, Tania A S S Bachega","doi":"10.1007/s12687-024-00762-3","DOIUrl":"10.1007/s12687-024-00762-3","url":null,"abstract":"<p><p>Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program. Our findings indicate significant improvements in national screening coverage; however, notable disparities persist among different regions. States such as São Paulo, Minas Gerais, Paraná, Santa Catarina, and Brasilia (Federal District) demonstrate high efficiency and coverage rates, while Northern regions continue to face challenges. This study discusses the implications of these disparities and emphasizes the need for continuous efforts to achieve universal and effective neonatal screening across Brazil. The findings underscore the importance of enhancing health policies and resource allocation to ensure timely diagnosis and intervention for all newborns nationwide.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"431-438"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}