Journal of Community Genetics最新文献

{"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":"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":"183-193"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11979032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013825","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":"Stigmatisation experiences in families with hereditary conditions: an exploratory study.","authors":"Joana Oliveira, Álvaro Mendes, Milena Paneque","doi":"10.1007/s12687-025-00784-5","DOIUrl":"https://doi.org/10.1007/s12687-025-00784-5","url":null,"abstract":"<p><p>Hereditary conditions can pose several challenges to the individual and their family members. In addition to the symptoms of the condition itself, stigmatisation is often described by those who live with hereditary conditions as a major challenge. This study explores the stigmatisation experiences of people with inherited conditions and their families in Portugal. Seventeen semi-structured interviews were conducted with individuals affected with a hereditary condition, asymptomatic carriers and family members, recruited through patient support organizations and social media. The data were analysed through inductive content analysis, resulting in three major categories: (i) stigmatisation contexts; (ii) psychosocial impacts; and (iii) coping strategies to deal with the stigma. The findings suggest the perception of stigma in family and social life, including specific contexts and systems such as academic, work, health care, social security and insurance. The stigma is associated with embarrassment, sadness, and frustration at the personal level, and with social impacts such as isolation, interpersonal distance, and avoidance of relationships. Participants often resort to providing explanations about their condition and to social isolation as a coping strategy for dealing with stigma. This study provides insights that reinforce the continuous need to raise awareness about hereditary conditions at a societal level and their associated impacts, to provide specific training for healthcare professionals on the potential stigma attached to inherited conditions, and to implement national strategies to reduce stigmatisation.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711586","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":"Experiences of stigmatization and its impacts among individuals living with hereditary diseases and family members in Portugal: an exploratory study.","authors":"Joana Valentim, Milena Paneque, Álvaro Mendes","doi":"10.1007/s12687-025-00782-7","DOIUrl":"https://doi.org/10.1007/s12687-025-00782-7","url":null,"abstract":"<p><p>Stigma is defined as the perception of an undesirable attribute that leads to discrimination against individuals and groups. Stigmatisation is often triggered due to visible physical or cognitive differences. Although the literature consistently highlights the (fear of) stigmatisation as a significant concern among individuals living with hereditary conditions, no studies in Portugal have specifically provided evidence on this issue. This study aims to address this gap by examining the experiences and impact of stigma on individuals and families affected by hereditary diseases in Portugal. After receiving ethics approval, a total of 216 participants, including affected individuals, asymptomatic carriers and family members from families with a range of hereditary conditions, were recruited through patient support associations. Participants completed an online questionnaire via Limesurvey. Data were analysed through Exploratory Factor Analysis (EFA), median comparison tests, and thematic analysis. Of the participants, 78.7% were women, 55.6% had a university degree, and 20.4% were aged between 42 and 47 years. Findings indicate that stigma impacts individuals across various domains, including social interactions, institutional settings, the workplace, and healthcare. EFA identified a bi-factorial model of stigma, comprising Stigma Experiences and Perceived Support subscales, and the overall scale demonstrated high internal consistency (α = .879). Women and younger participants reported higher levels of stigma. Religiosity and humor emerged as key coping strategies. This study is the first in Portugal to assess stigma among individuals living with hereditary conditions. Our findings contributed to validating a measurement instrument, identified sociodemographic variations, and examined the psychosocial dimensions of stigma among affected patients. These findings highlight the need for comprehensive strategies to address and mitigate stigma, improve support systems, and enhance the well-being and healthcare experiences of individuals and families impacted by hereditary diseases.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524831","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":"1st Congress of Tunisian Society of Human Genomics, October 17-19, 2024, Sousse, Tunisia.","authors":"","doi":"10.1007/s12687-025-00772-9","DOIUrl":"https://doi.org/10.1007/s12687-025-00772-9","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524824","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}