Victor Evangelista de Faria Ferraz

Oncogenetics focuses on identifying and managing hereditary cancer predisposition, enabling risk-reducing interventions and targeted therapies. This descriptive study evaluated the landscape of oncogenetics training within Medical Genetics Residency Programs in Brazil. Data were collected through online questionnaires and interviews with program supervisors. We assessed rotation availability, timing and duration, clinical and theoretical workload, multidisciplinary care, and competency assessment. Data were analyzed using descriptive statistics. All twelve accredited programs participated. Eleven (92%) offered oncogenetics training, primarily in the third year of residency. While half of the programs provided internal rotations, all allowed external rotations to compensate for local infrastructure limitations. Residents completed a mean of 250.1 practical hours (SD 126.5; range 40–400) over approximately 6.5 months, seeing about 13 patients per week (SD 9.2; range 5–30). Theoretical training averaged 31.3 h (SD 26.8; range 4–70), resulting in a mean total training workload of 258.7 h (SD 159.1; range 4–470). Multidisciplinary care and research opportunities were common; however, formal competency assessments specific to oncogenetics were infrequent. Considerable variability in workload and clinical settings was observed across programs. The findings indicate that oncogenetics is well integrated into Brazilian medical genetics training, aligning with the growing importance of genomic medicine in oncology. Nevertheless, the marked heterogeneity underscores the need for standardized training approaches. The study suggests that establishing inter-institutional networks and formalizing external rotations may help reduce geographic and technological disparities and support more consistent oncogenetics training in medical genetics residency programs across Brazil.

Background: According to the World Health Organization, education and awareness are essential components of public health promotion strategies. In the context of rare diseases (RDs), these actions are particularly critical because of persistent stigma, fragmented knowledge, and the frequent absence of consolidated clinical and organizational protocols. These gaps often result in inappropriate referrals, inefficient care pathways, unnecessary procedures, and delays in diagnosis, negatively affecting health outcomes and quality of life. Objective: This study aimed to identify and systematize the main recommendations for health education and awareness in the field of RDs, supporting the development of health care programs, public policies, and strategic initiatives. Methods: We formulated the research question using the Population, Concept, and Context framework. This scoping review followed the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) guidelines to ensure methodological transparency. Eligible records included peer-reviewed research articles of any design and official documents published in Portuguese, English, or Spanish, with no time restrictions. Records that did not address the research question, lacked sufficient rigor, or focused exclusively on specific subgroups of RDs were excluded. Searches were performed in PubMed/MEDLINE, Scopus, Embase, Web of Science, as well as gray literature. Study selection and data extraction were conducted by the research team, with disagreements resolved and the included sources reviewed by an RDs expert. Data were thematically categorized by consensus, and descriptive statistics were used to summarize findings. Results: A total of 58 sources of evidence were included. Among the identified recommendations related to education and awareness, most sources focused on professional education and training (49/58, 84.4%), followed by public policies and intersectoral integration (36/58, 62%), education and awareness for the general population (28/58, 48.2%), digital technologies (27/58, 46.5%), emotional support and experience sharing (20/58, 34.4%), and awareness events and dates (8/58, 13.7%). Percentages exceed 100% because individual sources could report multiple recommendations. Overall, the literature emphasizes integrating RDs content into educational initiatives and strengthening professional competencies, intersectoral collaboration, digital technologies, and broader awareness strategies. Conclusions: This scoping review systematically mapped and organized recommendations from diverse sources of evidence on strategies for health education and awareness related to RDs. It synthesizes heterogeneous evidence using a structured approach to provide a comprehensive overview of strategies in this field, consolidating dispersed knowledge into a coherent body of evidence. The findings may inform improvements in health services, as well as professional and managerial practices, and initiatives aimed at supporting patients, families, and advocacy groups involved in RDs, with potential implications for strengthening diagnostic processes, referral coordination, and more equitable access to information and care.

BACKGROUND According to the World Health Organization, education and awareness are essential components of public health promotion strategies. In the context of rare diseases (RDs), these actions are particularly critical because of persistent stigma, fragmented knowledge, and the frequent absence of consolidated clinical and organizational protocols. These gaps often result in inappropriate referrals, inefficient care pathways, unnecessary procedures, and delays in diagnosis, negatively affecting health outcomes and quality of life. OBJECTIVE This study aimed to identify and systematize the main recommendations for health education and awareness in the field of RDs, supporting the development of health care programs, public policies, and strategic initiatives. METHODS We formulated the research question using the Population, Concept, and Context framework. This scoping review followed the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) guidelines to ensure methodological transparency. Eligible records included peer-reviewed research articles of any design and official documents published in Portuguese, English, or Spanish, with no time restrictions. Records that did not address the research question, lacked sufficient rigor, or focused exclusively on specific subgroups of RDs were excluded. Searches were performed in PubMed/MEDLINE, Scopus, Embase, Web of Science, as well as gray literature. Study selection and data extraction were conducted by the research team, with disagreements resolved and the included sources reviewed by an RDs expert. Data were thematically categorized by consensus, and descriptive statistics were used to summarize findings. RESULTS A total of 58 sources of evidence were included. Among the identified recommendations related to education and awareness, most sources focused on professional education and training (49/58, 84.4%), followed by public policies and intersectoral integration (36/58, 62%), education and awareness for the general population (28/58, 48.2%), digital technologies (27/58, 46.5%), emotional support and experience sharing (20/58, 34.4%), and awareness events and dates (8/58, 13.7%). Percentages exceed 100% because individual sources could report multiple recommendations. Overall, the literature emphasizes integrating RDs content into educational initiatives and strengthening professional competencies, intersectoral collaboration, digital technologies, and broader awareness strategies. CONCLUSIONS This scoping review systematically mapped and organized recommendations from diverse sources of evidence on strategies for health education and awareness related to RDs. It synthesizes heterogeneous evidence using a structured approach to provide a comprehensive overview of strategies in this field, consolidating dispersed knowledge into a coherent body of evidence. The findings may inform improvements in health services, as well as professional and managerial practices, and initiatives aimed at supporting patients, families, and advocacy groups involved in RDs, with potential implications for strengthening diagnostic processes, referral coordination, and more equitable access to information and care.

Journal of Medical Internet Research - International Scientific Journal for Medical Research, Information and Communication on the Internet #Preprint #PeerReviewMe: Warning: This is a unreviewed preprint. Readers are warned that the document has not been peer-reviewed by expert/patient reviewers or an academic editor, may contain misleading claims, and is likely to undergo changes before final publication, if accepted, or may have been rejected/withdrawn. Readers with interest and expertise are encouraged to sign up as peer-reviewer, if the paper is within an open peer-review period. Please cite this preprint only for review purposes or for grant applications and CVs (if you are the author). Background: Rare diseases (RDs) have gained attention in public policy due to their complexity and low prevalence and the challenges they present in health care settings. Comprehensive care for people with RDs requires strengthening of services, programs, and care levels. It is imperative to make digital health tools available to support epidemiological surveillance, facilitate patient follow-up, and enhance the education and awareness of health care professionals (HCPs) regarding these conditions. Objective: This study aims to implement enhanced actions aligned with the Brazilian National Policy for Comprehensive Care for People with Rare Diseases to improve the attention and care provided to individuals. This will be achieved by developing a computational tool and establishing guidelines to optimize the regulation of the reference services for RDs, providing updated information to expedite diagnosis and promote collaboration. Methods: The methodology includes mapping the regulation processes in the Clinics Hospital of Ribeirão Preto Health Complex. Participants will include HCPs from the hospital complex and associated primary care centers and patients with a confirmed or suspected RD selected through medical records and patient associations. Data collection methods include questionnaires, semistructured interviews, and patient tracking using health information systems. The project will apply the 5W2H (what, who, where, when, why, how, and how much) framework to align tasks, responsibilities, and resources. Integrating digital tools adhering to the findability, accessibility, interoperability, and reusability principles will promote real-time monitoring, improved resource allocation, and enhanced workflow efficiency. Training initiatives will boost awareness and capacity among HCPs, while the computational tool seeks to streamline patient follow-up and tracking. Digital integration and interoperability will reduce referral process inefficiencies and support evidence-based decision-making. Education and awareness campaigns will fill knowledge gaps among HCPs and patients. Results: Ethics approval was granted on December 9, 2024. We conducted technical meetings with the IT team to align procedures for obtaining secondary data. Concurrently, we identified key guidelines and applied a knowledge management maturity questionnaire based on which we began mapping RD-related management processes. A computational ontology is currently under development to ensure semantic interoperability. This framework supported initiatives promoting education and awareness regarding RDs, targeting HCPs and patients. Conclusions: The study emphasizes the potential of digital health solutions to transform RD care by improving coordination, resource allocation, and stakeholder education. When effectively adopted, these solutions can enhance access to specialized care, reduce inefficiencies, and inform public health policies. Future efforts will focus on expanding the tool’s implementation, refining its functionalities, and evaluating its long-term impact on patient outcomes and system efficiency. This initiative highlights the crucial role of integrating digital technologies in managing RDs and underscores the need for ongoing collaboration among health care stakeholders to achieve sustainable improvements in patient care and policy development.

BACKGROUND Rare diseases (RDs) have gained attention in public policy due to their complexity and low prevalence and the challenges they present in health care settings. Comprehensive care for people with RDs requires strengthening of services, programs, and care levels. It is imperative to make digital health tools available to support epidemiological surveillance, facilitate patient follow-up, and enhance the education and awareness of health care professionals (HCPs) regarding these conditions. OBJECTIVE This study aims to implement enhanced actions aligned with the Brazilian National Policy for Comprehensive Care for People with Rare Diseases to improve the attention and care provided to individuals. This will be achieved by developing a computational tool and establishing guidelines to optimize the regulation of the reference services for RDs, providing updated information to expedite diagnosis and promote collaboration. METHODS The methodology includes mapping the regulation processes in the Clinics Hospital of Ribeirão Preto Health Complex. Participants will include HCPs from the hospital complex and associated primary care centers and patients with a confirmed or suspected RD selected through medical records and patient associations. Data collection methods include questionnaires, semistructured interviews, and patient tracking using health information systems. The project will apply the 5W2H (what, who, where, when, why, how, and how much) framework to align tasks, responsibilities, and resources. Integrating digital tools adhering to the findability, accessibility, interoperability, and reusability principles will promote real-time monitoring, improved resource allocation, and enhanced workflow efficiency. Training initiatives will boost awareness and capacity among HCPs, while the computational tool seeks to streamline patient follow-up and tracking. Digital integration and interoperability will reduce referral process inefficiencies and support evidence-based decision-making. Education and awareness campaigns will fill knowledge gaps among HCPs and patients. RESULTS Ethics approval was granted on December 9, 2024. We conducted technical meetings with the IT team to align procedures for obtaining secondary data. Concurrently, we identified key guidelines and applied a knowledge management maturity questionnaire based on which we began mapping RD-related management processes. A computational ontology is currently under development to ensure semantic interoperability. This framework supported initiatives promoting education and awareness regarding RDs, targeting HCPs and patients. CONCLUSIONS The study emphasizes the potential of digital health solutions to transform RD care by improving coordination, resource allocation, and stakeholder education. When effectively adopted, these solutions can enhance access to specialized care, reduce inefficiencies, and inform public health policies. Future efforts will focus on expanding the tool’s implementation, refining its functionalities, and evaluating its long-term impact on patient outcomes and system efficiency. This initiative highlights the crucial role of integrating digital technologies in managing RDs and underscores the need for ongoing collaboration among health care stakeholders to achieve sustainable improvements in patient care and policy development. CLINICALTRIAL INTERNATIONAL REGISTERED REPORT PRR1-10.2196/68949

Brazil is a continent-size country with 203 million inhabitants, classified as a developing upper-middle-income country, although inequities remain significant. Most of the population is assisted by the public Unified Health System (SUS), along with a thriving private health sector. Congenital malformations are the second leading cause of infant mortality and chronic/genetic disorders and a significant burden in hospital admissions. The past two decades have been crucial for formalizing medical genetics as a recognized medical specialty in the SUS, as well as for implementing a new health policy by the Ministry of Health for comprehensive care for rare diseases. These public health policies had the broad support of the Brazilian Society of Medical Genetics and Genomics and patient organizations. Most comprehensive genetic services are concentrated in large urban centers in the South and Southeast regions of Brazil; with this new policy, new services throughout the country are progressively being integrated. The number of medical geneticists increased by 103% in a decade. Details on the policy and an overview of the availability of services, testing, human resources, newborn screening, research projects, patient organizations, and relevant issues regarding medical genetics in this vast and diverse country are presented.

Approximately 704,000 new cases of cancer are expected to occur per year in Brazil between 2023 and 2025, corresponding to an incidence of 222 per 100,000 in men and 186 per 100,000 in women. Data from the last decades show that an epidemiological transition is occurring and cancer will soon be the first cause of death by disease in Brazil¹ 1 Instituto Nacional de Câncer (INCA). Estimativa 2023: incidência de câncer no Brasil / Instituto Nacional de Câncer. Rio de Janeiro (RJ): INCA; 2022a. p. 160. ,² 2 Instituto Nacional de Câncer (INCA). A situação do câncer no Brasil/Ministério da Saúde, Secretaria de Atenção à Saúde, Instituto Nacional de Câncer, Coordenação de Prevenção e Vigilância. Rio de Janeiro (RJ): INCA; 2006. p. 120. , overtaking cardiovascular diseases. Consequently, it is estimated that the annual cost of cancer treatment in the Brazilian public health system (SUS) will practically double until 2040, reaching R$ 7.8 billion³ 3 Instituto Nacional de Câncer (INCA). Gastos federais atuais e futuros com os cânceres atribuíveis aos fatores de risco relacionados à alimentação, nutrição e atividade física no Brasil. Rio de Janeiro (RJ): INCA; 2022b. p. 50. . Therefore, cancer prevention and early detection are key strategies to lower incidence, mortality growth, and costs of cancer care in the public health system. Although most cancers are associated with environmental causes, approximately 5–10% are mainly due to hereditary predisposition, characterized by multiple cases in a family, early age of onset, and frequently, diagnosis of multiple primary cancers in one person. Hereditary syndromes have been well-established for the most common solid tumors such as breast and colorectal cancers. However, recent expansion of genetic testing has identified hereditary versions of practically all types of cancers, associated or not with specific phenotypic criteria. In Brazil, several studies carried out in the last decades characterized the prevalence of germline pathogenic genetic variants associated with distinct cancer types including breast, colorectal, retinoblastoma, adrenocortical carcinoma, and ovarian cancers⁴ 4 Ribeiro RC, Sandrini F, Figueiredo B, Zambetti GP, Michalkiewicz E, Lafferty AR, et al. An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci USA. 2001;98(16):9330-5. https://doi.org/10.1073/pnas.161479898 https://doi.org/10.1073/pnas.161479898... 5 Giacomazzi J, Graudenz MS, Osorio CA, Koehler-Santos P, Palmero EI, Zagonel-Oliveira M, et al. Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. PLoS One. 2014;9(6):e99893. https://doi.org/10.1371/journal.pone.0099893 https://doi.org/10.1371/journal.pone.009... 6 Palmero EI, Carraro DM, Alemar B, Moreira MAM, Ribeiro-Dos-Santos Â, Abe-Sandes K, et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Sci Rep. 2018;8(1):9188. https://doi.org/10.1038/s41598-018-27315-2 https://doi.org/10.1038/s41598-018-27315... 7 Paula AE, Galvão HCR, Bonatelli M, Sabato C, Fernandes GC, Berardinelli GN, et al. Clinicopathological and molecular characterization of Brazilian families at risk for lynch syndrome. Cancer Genet. 2021;254-5:82-91. https://doi.org/10.1016/j.cancergen.2021.02.003 https://doi.org/10.1016/j.cancergen.2021... -⁸ 8 Guindalini RSC, Viana DV, Kitajima JPFW, Rocha VM, López RVM, Zheng Y, et al. Detection of germline variants in Brazilian breast cancer patients using multigene panel testing. Sci Rep. 2022;12(1):4190. https://doi.org/10.1038/s41598-022-07383-1 https://doi.org/10.1038/s41598-022-07383... . These studies showed a high prevalence of specific mutations also found in other populations as well as variants mostly or only observed in the Brazilian population⁹ 9 Achatz MI, Zambetti GP. The inherited p53 mutation in the Brazilian population. Cold Spring Harb Perspect Med. 2016;6(12):a026195. https://doi.org/10.1101/cshperspect.a026195 https://doi.org/10.1101/cshperspect.a026... and contributed to the growth of scientific knowledge in the field. They also helped insert oncogenetics and genetic cancer risk assessment (GCRA) in public and private health services and established in 2009 a network funded by the Brazilian National Council for Scientific and Technological Development (CNPq) and coordinated by the Brazilian National Cancer Institute (INCA) (Rede Nacional de Cancer Familial)¹⁰ 10 Instituto Nacional de Câncer (INCA). Rede nacional de câncer familial: manual operacional / Instituto Nacional de Câncer – Rio de Janeiro (RJ): INCA; 2009. p. 229. ,¹¹ 11 Ashton-Prolla P, Seuanez HN. The Brazilian hereditary cancer network: historical aspects and challenges for clinical cancer genetics in the public health care system in Brazil. Genet Mol Biol. 2016;39(2):163-5. https://doi.org/10.1590/1678-4685-GMB-2014-0373 https://doi.org/10.1590/1678-4685-GMB-20... . This network is now an autonomous organization (www.rebrach.org.br) intended to promote actions to optimize access, health care assistance, training of health care professionals, and scientific investigations in hereditary cancer.

Endometrial cancer (EC) is a prevalent malignancy in women, and those who are proficient in the DNA mismatch repair (pMMR) pathway may have a family history (FH) that meets the criteria for a hereditary neoplastic condition (HNS). This study aimed to estimate the risk of HNS in women with pMMR endometrial tumors by analyzing their FH. To achieve this, we collaborated with a primary study and collected FH information by telephone. The final sample comprised 42 women who responded to the Primary Screening Questionnaire. Their family pedigrees were drawn and categorized according to internationally standardized criteria for the risk of HNS. Results showed that 26 women (61%) were found to be at risk for HNS, with Bethesda criteria being met by 23%, Amsterdam criteria by 15%, and 4% met the attenuated familial adenomatous polyposis criteria. Our results emphasize the importance of FH and the need to encourage healthcare professionals to collect and document FH more frequently, even if it is self-reported. By identifying individuals with HNS, we can improve their outcomes and reduce the burden of cancer in families with a predisposition to cancer.