Journal of Community Genetics最新文献

{"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":"https://doi.org/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":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-13","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":"Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.","authors":"Lavínia Schuler-Faccini, Simone de Menezes Karam, Maria Teresa Vieira Sanseverino, Marcia Helena Barbian, Julia do Amaral Gomes, João Matheus Bremm, Augusto César Cardoso-Dos-Santos, Claudia Fernandes Lorea, Karina Carvalho Donis, Ricardo Rohweder, Laércio Moreira Cardoso-Junior, Julia Cavalcante do Carmo, Paulyana Dos Santos Corecco-Moura, Fabyanne Guimarães de Oliveira, Rayhele Rodrigues de Oliveira, Vânia Mesquita Gadelha Prazeres, Juliana Herrero da Silva, Nitza Ferreira Muniz, Ayoade Desmond Babalola, Laysa Kariny Krieck, Angel Larroza de Souza, Emilly de Jesus Garcia Ataíde, Lucia Andreia Nunes de Oliveira, Giovanny Vinícius de Araújo França","doi":"10.1007/s12687-025-00775-6","DOIUrl":"https://doi.org/10.1007/s12687-025-00775-6","url":null,"abstract":"<p><p>Brazil is a middle-income country with approximately 210 million inhabitants, with around 2,900,000 births annually. Besides its extensive territorial area, the country is characterized by huge heterogeneity in many aspects, notably in socioeconomic status, education, access to healthcare, geographic mobility, different biomes, agricultural practices and diverse ethnic ancestry. These characteristics directly impact the frequency and distribution of genetic disorders and Congenital Anomalies (CA), which are the second leading cause of death in the first year of life. In this review, we will present the main initiatives and available information from governmental organs and scientific research in Brazil regarding the epidemiology of congenital anomalies and rare diseases, emphasizing teratogenic risk factors and population medical genetics aspects.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391868","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":"https://doi.org/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":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-06","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":"Identifying key factors for recurrence of genetic disorder: insights from Indian families with multiple affected children.","authors":"Kriti Menon, Vani Agarwal","doi":"10.1007/s12687-024-00756-1","DOIUrl":"10.1007/s12687-024-00756-1","url":null,"abstract":"<p><p>This study investigates the factors contributing to the recurrence of severe genetic conditions in multiple children of the same couple, focusing on a cohort of 26 families who had more than one child affected by the same genetic disorder. Conducted at a genetic clinic in India, the study employed a qualitative methodology guided by COREQ guidelines, using semi-structured interviews to explore the interplay of individual beliefs, healthcare provider practices, and systemic healthcare inefficiencies. The interviews were transcribed and analyzed using a combination of content analysis and grounded theory, which allowed for the identification of recurrent themes and emerging ideas. The study found that strong religious and cultural beliefs often led families to disregard medical advice, contributing to the recurrence of genetic conditions. Additionally, significant gaps in healthcare provider knowledge and inadequate reproductive counseling were identified as critical barriers to timely diagnosis and prevention of recurrence. Another major theme was the inherent complexities of genetic diseases and genetic testing, where variable expression of conditions, delayed symptom onset, and limitations of genetic tests themselves often prevented early diagnosis and intervention. This research highlights the need for improved genetic literacy among healthcare providers, culturally sensitive counseling, and better integration of genetic services into the broader healthcare system. By addressing these barriers, the risk of recurrence can be significantly reduced, improving patient outcomes and family well-being. This study is one of the few in India to analyze such factors and underscore the critical need for targeted interventions at multiple levels.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"57-71"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of HLA-B*58:01 allele among Malay, Chinese and Indian ethnic patients with gout attending primary care clinics in Malaysia.","authors":"Wei Leik Ng, Boon Pin Kee, Norita Hussein, Chirk Jenn Ng, Sheh Wen Kuan, Fatimah Zahrah Mohd Zaidan, Siti Umi Fairuz Azmi, Sue-Mian Then, Zhenli Kwan, Nadeem Qureshi, Jing Ran Lim, Li Ying Wong, Yew Kong Lee, Tun Firzara Abdul Malik, Rajeswari Gunasekaran, Dyoi-E Low","doi":"10.1007/s12687-024-00753-4","DOIUrl":"10.1007/s12687-024-00753-4","url":null,"abstract":"<p><p>HLA-B*58:01 allele is associated with allopurinol-induced severe cutaneous reaction (SCAR). Malaysia has a multiethnic population with limited data on the prevalence of HLA-B*58:01 among patients with gout treated in primary care settings. This cross-sectional study aimed to determine the prevalence of HLA-B*5801 in patients with gout from the Malay, Chinese and Indian ethnicities attending primary clinics in Malaysia.We collected blood samples from patients with gout attending three primary care clinics in Klang Valley, Malaysia, using convenience sampling. Genomic DNA samples were subjected to typing of HLA-B*5801 by a multiplex probe-based assay in a real-time PCR system, validated by PCR-resequencing approach.547 patients (194 Malay, 266 Chinese and 87 Indian) were recruited. The overall prevalence of HLA-B*58:01 was 16.8% (Chinese 21.8%, Indian 12.6% and Malay 11.9%). None of our 61 HLA-B*58:01 carriers who ever used allopurinol developed SCAR.The overall prevalence of HLA-B*58:01 allele in our patients with gout was high, particularly among the Chinese ethnicity (21.8%). None of our HLA-B*58:01 positive patients treated with allopurinol reported allopurinol-induced SCAR. A more accurate predictive model for allopurinol-induced SCAR is needed.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"37-45"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Knowledge and attitudes towards genomic medicine and pharmacogenomics of medical undergraduate students in Sri Lanka: a cross-sectional study.","authors":"Dilini N Kekulandara, M S Wickramarachchi","doi":"10.1007/s12687-024-00754-3","DOIUrl":"10.1007/s12687-024-00754-3","url":null,"abstract":"<p><p>Genomic medicine and pharmacogenomics (PGX) are emerging practices in medicine that play a vital role in providing personalized and efficient treatments for patients. While many countries have integrated these novel concepts into their undergraduate medical curricula to enhance the quality of healthcare, Sri Lanka remains relatively new to these advancements. Herein, we accessed the knowledge and attitude of Sri Lankan medical undergraduates on genomic medicine and PGX and explored the readiness of introducing genomic insights to Sri Lankan undergraduate medical education. The study sample was the undergraduate students of Medical Faculty of Wayamba University in Sri Lanka, being a newly developed and diverse institution seeking research findings to enhance the curriculum and teaching-learning activities aiming to produce competent graduates. A descriptive cross-sectional study was conducted by distributing a questionnaire to all five student batches at Faculty of Medicine, Wayamba University of Sri Lanka. The data of 232 respondents (55% response rate), demonstrated a good level of knowledge on genomic medicine and PGX, with no significant variation of the level of knowledge across the five academic years. A nuanced range of attitudes, encompassing both negative and positive perspectives towards genomic medicine and PGX was observed varying according to the specific questions posed. However, heavy concerns regarding data privacy, insurance implications, and the timing of implementation appeared. The results of the study highlight a need for curriculum enhancement, acknowledging the level of knowledge while emphasizing areas for improvement in students' perspectives on genomic medicine and PGX for better advancements in future healthcare of Sri Lanka.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"47-55"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Birth defects reporting and surveillance in India: a narrative review.","authors":"Anita Kar","doi":"10.1007/s12687-024-00760-5","DOIUrl":"10.1007/s12687-024-00760-5","url":null,"abstract":"<p><p>Mortality attributable to birth defects (congenital anomalies, congenital disorders) is increasing in low and middle-income countries, including India. Surveillance is essential to inform strategies to address these disorders. The objective of this narrative review was to document the birth defects surveillance/reporting systems in India, their current status, structures and reporting formats. The review used empirical analysis of retrieved literature to answer the framed research questions. Publications on birth defects surveillance in India was negligible. Website searches yielded information on two surveillance systems. The WHO South East Asia Region-Newborn-Birth Defects (SEAR-NBBD) surveillance for congenital disorders uses a non-representative sample of hospitals to conduct passive surveillance for eight congenital anomalies. The system has a hierarchy of quality control measures to assure data accuracy. The second system is a child screening and early intervention service (the Rashtriya Bal Swasthya Karyakram, RBSK), which reports data on nine birth defects among children screened at birth, in the first six weeks of life, and till 18 years of age. The RBSK uses existing community-based staff and competency-appropriate screening tools that incorporate defined referral routes to secondary or tertiary level of care. Data from neither of these systems is available in the public domain. The review identified that the strengths and weaknesses of both these systems can be utilized to put in place a potentially sustainable sentinel surveillance for monitoring birth defects in India.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"5-14"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications.","authors":"Tetske Dijkstra, M Corrette Ploem, Irene M van Langen, Boudien M Y Sieperda, Jacoliene Zaal, Anneke M Lucassen, Els L M Maeckelberghe, Imke Christiaans","doi":"10.1007/s12687-024-00761-4","DOIUrl":"10.1007/s12687-024-00761-4","url":null,"abstract":"<p><p>Cardiovascular diseases, both inherited and familial, indicate a risk of early and preventable cardiovascular events for relatives of affected individuals. A digital risk-prediction tool that enables general population individuals to evaluate their cardiovascular risk based on family health history could be a responsible approach to facilitate early detection and improve public health, but development and use of such a tool is not without legal and ethical requirements. At the start of tool development, experts addressed potential legal and ethical implications. Especially European Union (EU) regulations could present potential obstacles for the tool's development, broader availability and general use. A first example is that the EU General Data Protection Regulation does not allow the tool to collect health data about relatives without their consent; the alternative is data anonymisation. This requirement has major consequences for the tool's usefulness and raises ethical concerns about who 'the owner' is of family data. A second example is related to the EU's Medical Device Regulation: if software generates health risks or provides medical advice, it requires a CE mark from a 'notified body', an extensive and costly procedure. In this article, we describe these implications in more detail and discuss possible solutions. To conclude, alongside national law, European law can impact on the development of digital tools that collect family health data to provide information on health risks. We recommend including experts in law and ethics in developmental stages of such tools which are likely to become more frequent in routine public care.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"73-81"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950467/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Healthcare professionals' experiences with expanded noninvasive prenatal screening: challenges and solutions.","authors":"Zoë Claesen-Bengtson, Karuna R M van der Meij, Joris R Vermeesch, Lidewij Henneman, Pascal Borry","doi":"10.1007/s12687-024-00751-6","DOIUrl":"10.1007/s12687-024-00751-6","url":null,"abstract":"<p><p>Genome-wide non-invasive prenatal cell-free DNA screening (NIPT) can lead to the early detection of important health-related information for the fetus and pregnant woman. However, the expanding scope of screening heightens information complexity and creates challenges for clinical interactions. This study explored Belgian healthcare professionals' experiences to identify challenges and solutions to expanded NIPT in practice. We assessed experiences of 31 healthcare professionals including clinical geneticists, gynecologists, midwives, counselors, and laboratory specialists, in Belgium where NIPT is publicly reimbursed. The interviews were analyzed inductively and iteratively. Key challenges to expanded NIPT were identified and structured under three headings: (1) Pre-test information provision: The more is tested for, the more complex the information provision becomes; (2) Return of results: Knowing more might be worse than knowing less; and (3) Hurdles that complicate setting a (nation-wide) scope. Solutions mentioned included providing additional resources for counseling, implementing value-based counseling, and a uniform scope of NIPT. To minimize potential harms and to retain trust of NIPT-users, it is crucial that best practices for counseling and reporting results are more substantiated. Sustainable lines of communication should be developed across stakeholder groups to navigate transparent implementation of technological developments in prenatal genetic screening.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"91-103"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing familial hypercholesterolemia diagnosis in pediatrics through universal screening and provider education.","authors":"Omar Abousaad","doi":"10.1007/s12687-025-00773-8","DOIUrl":"10.1007/s12687-025-00773-8","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"105-106"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143190817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}