Journal of Community Genetics最新文献_第3页

Birth defects reporting and surveillance in India: a narrative review. 印度出生缺陷报告与监测：叙述性回顾。

IF 1.5

Journal of Community Genetics Pub Date : 2025-02-01 Epub Date: 2024-12-09 DOI: 10.1007/s12687-024-00760-5

Anita Kar

{"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":"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.","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}

引用次数: 0

Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications. 为普通人群开发基于家族健康史的数字风险预测工具：法律和伦理影响。

IF 1.5

Journal of Community Genetics Pub Date : 2025-02-01 Epub Date: 2024-12-14 DOI: 10.1007/s12687-024-00761-4

Tetske Dijkstra, M Corrette Ploem, Irene M van Langen, Boudien M Y Sieperda, Jacoliene Zaal, Anneke M Lucassen, Els L M Maeckelberghe, Imke Christiaans

{"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":"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.","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}

引用次数: 0

Healthcare professionals' experiences with expanded noninvasive prenatal screening: challenges and solutions. 医疗保健专业人员扩大无创产前筛查的经验：挑战和解决方案。

IF 1.5

Journal of Community Genetics Pub Date : 2025-02-01 Epub Date: 2024-12-21 DOI: 10.1007/s12687-024-00751-6

Zoë Claesen-Bengtson, Karuna R M van der Meij, Joris R Vermeesch, Lidewij Henneman, Pascal Borry

{"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":"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.","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}

引用次数: 0

Enhancing familial hypercholesterolemia diagnosis in pediatrics through universal screening and provider education.

IF 1.5

Journal of Community Genetics Pub Date : 2025-02-01 Epub Date: 2025-02-04 DOI: 10.1007/s12687-025-00773-8

Omar Abousaad

引用次数: 0

Experts' perspectives on human gene editing in Switzerland. 专家对瑞士人类基因编辑的看法。

IF 1.5

Journal of Community Genetics Pub Date : 2025-02-01 Epub Date: 2024-12-19 DOI: 10.1007/s12687-024-00757-0

Jade Berlincourt, Sumanie Gächter, Effy Vayena, Kelly E Ormond

{"title":"Experts' perspectives on human gene editing in Switzerland.","authors":"Jade Berlincourt, Sumanie Gächter, Effy Vayena, Kelly E Ormond","doi":"10.1007/s12687-024-00757-0","DOIUrl":"10.1007/s12687-024-00757-0","url":null,"abstract":"Despite many specialized studies on the views of the public or stakeholders who face inherited conditions that may be treatable by HGE, limited studies have focused on experts' views towards Human Gene Editing (HGE). Therefore, in this study we conducted exploratory interviews with 14 experts (scientists, clinicians, social scientists, lawyers) in Switzerland to assess their views towards HGE and how they expect the Swiss public to view HGE. We found general acceptance of Somatic Gene Editing (SGE), but opinions towards Germline Gene Editing (GGE) were more divided. Participants emphasized patient autonomy and informed decision-making in pursuing gene editing treatments, and described a need for regulation, as with any other new therapy. Only a few participants (mostly lawyers and ethicists) described the regulations that currently prohibit GGE in Switzerland. Some expressed concern that restrictive regulations would lead to healthcare outsourcing and medical tourism to other nearby countries, as it has in the past with other restricted technologies. The analysis explored the unique Swiss context that is shaped by cultural diversity, conservative attitudes towards new medical technologies, and a democratic system that engages the public in policy and law making. Given that our findings identify areas of difference from that published in other countries, we emphasize the value in conducting similar research across different countries in order to achieve a global sense of attitudes towards HGE, so that regulations can be tailored to the diverse needs of citizens around the world.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"83-90"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856107","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}

引用次数: 0

Preconception carrier screening in 2025: what's next? : A collection in the journal of community genetics. 2025 年孕前携带者筛查：下一步是什么？社区遗传学杂志》文集。

IF 1.5

Journal of Community Genetics Pub Date : 2025-02-01 DOI: 10.1007/s12687-025-00778-3

Martina C Cornel

引用次数: 0

Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature. 支持欧洲罕见病网络（ern）患者伙伴关系框架的持续发展和使用：对科学文献中框架的范围审查。

IF 1.5

Journal of Community Genetics Pub Date : 2025-02-01 Epub Date: 2024-12-21 DOI: 10.1007/s12687-024-00763-2

Olivia K C Spivack, Mirthe J Klein Haneveld, Simone Louisse, Graham Slater, Inés Hernando

{"title":"Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature.","authors":"Olivia K C Spivack, Mirthe J Klein Haneveld, Simone Louisse, Graham Slater, Inés Hernando","doi":"10.1007/s12687-024-00763-2","DOIUrl":"10.1007/s12687-024-00763-2","url":null,"abstract":"The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining and evaluating patient partnership, for which the recently developed ERN Patient Partnership Framework may serve as guidance. This scoping review aims to identify and describe relevant frameworks published in scientific literature, capturing key learning points to inform future updates of the ERN Patient Partnership Framework and promote its use in practice. MEDLINE, Embase, and the Web of Science Core Collection were searched to identify recently published frameworks (2013-2023) focused on patient partnership and aligned with at least one core ERN activity. Framework characteristics were summarised and information pertaining to their content, structure and practical use was extracted. Twelve relevant frameworks were identified, presenting practical approaches, conceptual understandings or both. Five frameworks focused on areas aligned with specific core ERN activities; others had an overarching scope. Frameworks presented various engagement approaches and employed heterogeneous terminology and development methods. Frameworks differed in their content and structure and presented key considerations for use. Our review underscores the importance of providing clear definitions and explanations of patient partnership. It provides insight into how meaningful, and inclusive patient partnership can be promoted within our diverse ERN context and sheds light on the importance of framework implementation as a prerequisite to structured evaluation. Learning points generated from this review will be used to inform future updates of the ERN Patient Partnership Framework and promote its implementation in practice.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"15-28"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950562/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873256","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}

引用次数: 0

Knowledge and perception of medical students on genetics in the genomic era. 医学生对基因组时代遗传学的了解和看法。

IF 1.5

Journal of Community Genetics Pub Date : 2025-02-01 Epub Date: 2024-11-16 DOI: 10.1007/s12687-024-00748-1

Lizbeth C Morales-Rios, José M Ramírez-Aranda, Laura E Martínez de Villarreal, Marisol Ibarra-Ramírez

{"title":"Knowledge and perception of medical students on genetics in the genomic era.","authors":"Lizbeth C Morales-Rios, José M Ramírez-Aranda, Laura E Martínez de Villarreal, Marisol Ibarra-Ramírez","doi":"10.1007/s12687-024-00748-1","DOIUrl":"10.1007/s12687-024-00748-1","url":null,"abstract":"The importance of medical genetics in modern healthcare underscores the urgent need for comprehensive genetics education for physicians. Such training should address both fundamental concepts and ethical considerations to bridge existing knowledge gaps and improve early diagnostic capabilities. In Latin America, the level of genetic knowledge among healthcare workers, particularly medical students, remains largely unexplored. This study evaluates the knowledge and attitudes toward genetic testing among final-year medical students at a public university in Monterrey, Mexico. Using a cross-sectional, observational, and anonymous survey design, the International Genetic Literacy and Attitudes Survey version 3 (iGLAS3) was administered from October 1, 2019, to August 16, 2020. This online survey collected demographic information, assessed genetic knowledge, and gauged opinions on genetic topics, focusing on items most relevant to our research objectives. Statistical analyses provided descriptive statistics and measures of central tendency. Of the 323 surveys distributed, 201 participants completed essential sections, revealing a moderate to high level of genetic knowledge, with an average score of 70 ± 11.5. The demographic profile included 58.7% women, 40.3% men, and 0.5% non-binary individuals, with an average participant age of 24 years. A majority of participants expressed openness to genetic testing, primarily through private entities; however, significant concerns about the potential misuse of genetic data were noted. These findings underscore the necessity of enhancing genetic education and incorporating practical genetics training into medical curricula to meet the evolving challenges in this field effectively.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"29-35"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644719","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}

引用次数: 0

Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina. 产前诊断的先天性异常和出生机构的复杂性水平在阿根廷。

IF 1.5

Journal of Community Genetics Pub Date : 2025-01-21 DOI: 10.1007/s12687-024-00766-z

Analizia Astudillo, Boris Groisman, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Horacio Aiello, Marianela Trotta, Paloma Brun

{"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":"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.","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}

引用次数: 0

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. 患者和利益攸关方对古吉拉特邦部落人口产前镰状细胞病筛查及其结果的看法：一项参与式混合方法研究。

IF 1.5

Journal of Community Genetics Pub Date : 2025-01-21 DOI: 10.1007/s12687-025-00768-5

Apurvakumar Pandya, Kapil Dave, Shrey Desai, Gayatri Desai

{"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":"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.","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}

引用次数: 0