Journal of Community Genetics最新文献

{"title":"Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal.","authors":"B Ribeiro, I Homem de Melo, A Sequeira, R Moldovan, M Paneque","doi":"10.1007/s12687-025-00774-7","DOIUrl":"https://doi.org/10.1007/s12687-025-00774-7","url":null,"abstract":"<p><p>Genetic counselling emerged as a specialized healthcare discipline in the 1960s, and since then, various sub-specialties have developed globally, namely and more recently, psychiatric genetic counselling. This study provides a pioneering exploration of family physicians and psychiatrists' perceptions regarding genetic counselling provision and its potentialities in the context of psychiatric illnesses in Portugal. A qualitative methodology with semi-structured interviews was used. Among the participants, five were family physicians, and six were psychiatrists. Thematic analysis revealed three themes: (1) the role of genetics in healthcare, (2) barriers to psychiatric genetic counselling implementation, and (3) perceived benefits associated with its implementation. Results show that while the importance of genetics in psychiatric disorders is acknowledged, there is low literacy about genetic counselling practice from the professional groups interviewed. Also, the availability and mainstreaming of genetic testing seem to influence how genetic counselling is perceived and utilized. There is a perceived need for training and guidelines that foster the dissemination of genetics into healthcare, specifically mental healthcare. A holistic and patient-centred approach is considered essential in managing psychiatric disorders and, by extension, in psychiatric genetic counselling, as it addresses both medical and psychosocial factors. Although psychiatrists and family physicians are keen to integrate psychiatric genetic counselling into their patients' care, it seems that certain fundamental challenges still persist in genetic healthcare provision. Future research should contribute for a more comprehensive evaluation of the readiness for psychiatric genetic counselling implementation in the country.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450447","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":"Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing.","authors":"Daniele Lima Rocha, Jordânia Dos Santos Pinheiro, Gabriel Vasata Furtado, Thayne Woycinck Kowalski, Karina Carvalho Donis, Marta Chaves, Greice Chini, Thais Lampert Monte, Raphael Machado de Castilhos, Maria Luiza Saraiva-Pereira, Lavínia Schuler-Faccini, Laura Bannach Jardim","doi":"10.1007/s12687-025-00777-4","DOIUrl":"https://doi.org/10.1007/s12687-025-00777-4","url":null,"abstract":"<p><p>Healthcare delay (HCDe) is an important but not well-known issue in genetic disorders, especially in tandem nucleotide repeat expansion diseases (TNRED). We aimed to investigate it and determine whether predictive genetic testing (PGT) and other factors may impact HCDe. A retrospective review was performed on electronic files of symptomatic and pre-symptomatic consultants (SC and PSC) by the time of their first evaluation, from TNRED families followed from 1998 to 2023. HCDe was the difference between ages at onset of symptoms (AO) and at start of healthcare for these symptoms in SC and PSC. Age, diagnosis, year of diagnosis, sex, AO, residence, schooling, index cases, and previous PGT were analyzed. Of the 1,100 subjects reviewed, 811 and 101 were SC and PSC carriers of Huntington disease, Huntington disease-like 2, spinocerebellar ataxia type 2, 3, 6, 7, or 10, or Friedreich ataxia. Their median (IQR) HCDe was 5 (6) years and did not differ across diseases. Over the years, the number of annual PSC diagnoses became similar to that of SC. Better schooling and recurrent familial cases were associated with shorter HCDe, but the strongest effect on HCDe was related to PGT: in 33 PSC who converted and came to healthcare, HCDe was of 1 year (p < 0.0001, MW). HCDe was large in all TNRED studied. Parameters related to better access to information, especially PGT, improved HCDe. As molecular diagnoses become more frequent in PSC, we expect that HCDe will be reduced in the future.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450454","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":"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":"Enhancing familial hypercholesterolemia diagnosis in pediatrics through universal screening and provider education.","authors":"Omar Abousaad","doi":"10.1007/s12687-025-00773-8","DOIUrl":"https://doi.org/10.1007/s12687-025-00773-8","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143190817","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":"Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.","authors":"Analizia Astudillo, Boris Groisman, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Horacio Aiello, Marianela Trotta, Paloma Brun","doi":"10.1007/s12687-024-00766-z","DOIUrl":"https://doi.org/10.1007/s12687-024-00766-z","url":null,"abstract":"<p><p>Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low). Newborns with the following anomalies were selected for analysis: spina bifida, hydrocephalus, critical congenital heart defects, diaphragmatic hernia, gastroschisis, and omphalocele. Prevalences at birth and prenatal diagnosis proportions were calculated according to the birth institution complexity level. A total of 2.214.102 births across 131 institutions were evaluated, with 1.202.311 births in high-complexity institutions and 1.011.791 in low-complexity institutions. The prevalences per 10.000 births and the prenatal diagnosis proportions for the entire sample were: spina bifida 5,40(95%CI 5,10 - 5,71) 68,54%; hydrocephalus 6,96(95% CI 6,62 - 7,32) 78,92%; critical congenital heart defects 11,05(95% CI 10,62 - 11,49) 43,21%; diaphragmatic hernia 3,88(95%CI 3,62 - 4,14) 68,65%; gastroschisis 7,85(95%CI 7,48 - 8,22) 79,27%; omphalocele 2,01(95%CI 1,83 - 2,20) 76,18%. Prevalences and prenatal diagnosis porportions were significantly higher in high-complexity institutions. Prenatal diagnosis and perinatal care networks must be improved to ensure that patients with major congenital anomalies are delivered in high-complexity birth institutions. The prevalence and prenatal diagnosis porportion, stratified by the complexity level of institutions, can serve as management indicators to evaluate improvements in care quality.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013834","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":"Perceptions of patients and stakeholders on a prenatal sickle cell disease screening and its results among tribal populations of Gujarat: a participatory mixed-method research.","authors":"Apurvakumar Pandya, Kapil Dave, Shrey Desai, Gayatri Desai","doi":"10.1007/s12687-025-00768-5","DOIUrl":"https://doi.org/10.1007/s12687-025-00768-5","url":null,"abstract":"<p><p>Prenatal screening (PNS) for Sickle Cell Disease (SCD) offers a potential avenue for informed reproductive choices and the sickle elimination initiative of the Government of India. The objective of the study was to explore perceptions and ethical dilemmas surrounding prenatal screening for sickle cell disease and subsequent termination of pregnancy among pregnant women and key stakeholders from the tribal region of Gujarat. The study employed sequential mixed-methods research, embedding a participatory research approach. Pregnant women and key stakeholders from Jhaghadia, Bharuch District of Gujarat were interviewed. The qualitative data was analyzed using a thematic analytic framework, and the quantitative data was presented with descriptive statistics. Findings revealed key themes such as knowledge about SCD and its management, knowledge about PNS, barriers to PNS, acceptance of PNS and ethical dilemmas related to the termination of pregnancy (TOP). The results show a mixed preference for prenatal screening from both qualitative and quantitative data, primarily due to the complex decision-making process. Couples with SCD reported a high preference for PNS and TOP if the foetus had sickle cell disease whereas couples living with SCD trait were assigned lowest priority and preference to under-go PNS and TOP. Decisions were influenced by limited knowledge, lack of lived experience of SCD, family pressure, cultural and religious beliefs, and social stigma. A comprehensive behaviour change communication strategies that empower couples and key stakeholders through culturally sensitive SCD & PNS literacy, and genetic counselling is essential to promote informed decision-making within the cultural context of tribal communities.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013833","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":"Assessment of biobank awareness among medical students in Iran.","authors":"Jan Domaradzki, Reza Jahanshahi, Marcin Piotr Walkowiak, Dariusz Walkowiak","doi":"10.1007/s12687-025-00769-4","DOIUrl":"https://doi.org/10.1007/s12687-025-00769-4","url":null,"abstract":"<p><strong>Background: </strong>Despite the rise of research biobanks in the Middle East, they continue to struggle with the limited number of donors. Although qualified healthcare professionals may address it, the awareness of biobanks among future physicians is low. This paper assesses the attitudes towards research biobanks among Iranian medical students.</p><p><strong>Methods: </strong>459 medical students completed an anonymous self-administered online questionnaire regarding the knowledge and attitudes of future physicians towards biobanking.</p><p><strong>Results: </strong>This study demonstrates that almost half of the students had not heard about biobanks, and one-third had mixed feelings about biobank research. The majority declared a willingness to share their biological material for biobank research and declared altruistic motivation. Students' willingness to donate was influenced by the type of tissues, the purpose of biobank research and trust in biobanks, which influenced their preference for a study-specific consent model. Students expressed concern over biospecimens' unethical or commercial use and data safety.</p><p><strong>Conclusion: </strong>This research shows that promoting knowledge about biobank-based research among future physicians in Iran is crucial.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013825","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":"Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.","authors":"Maria Vitoria Gomes da Silva, Kathleen da Silva Sousa, Catarina Costa, Carolina Lemos, Milena Paneque, Carla Maria Ramos Germano, Lucimar Retto da Silva de Avó, Débora Gusmão Melo","doi":"10.1007/s12687-025-00767-6","DOIUrl":"https://doi.org/10.1007/s12687-025-00767-6","url":null,"abstract":"<p><p>In 2018, Portuguese researchers proposed the \"Tool for Quality Assessment of Genetic Counseling,\" a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions. The adapted tool was subsequently administered to 81 clinical geneticists, including physicians and nurses, and the data were analyzed using Principal Component Analysis. Items with factor loadings above 0.4 were retained for interpretive purposes. Results were normalized and categorized. The adapted items achieved acceptable CVIs, ranging from 0.831 to 1.0, demonstrating strong validity. Scale results revealed that the dimensions \"genetic counseling outcomes\" (100%), \"education\" (86.41%), and \"individual attributes\" (80%) were rated as very good, \"counselor-client relationship\" (76.33%) as good, and \"service functioning\" (59.95%) as sufficient. These findings indicated that although participants perceived the genetic counseling they provided as achieving desired outcomes, deficiencies in service functioning negatively impacted perceptions of overall quality, highlighting the need for systemic improvements to enhance service delivery. This cross-cultural adaptation validated a reliable new instrument for Brazilian professionals, providing a robust foundation for future research and applications in diverse clinical settings.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013681","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}