Journal of Community Genetics最新文献

{"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}

{"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":"<p><p>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.</p>","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}

{"title":"Preconception carrier screening in 2025: what's next? : A collection in the journal of community genetics.","authors":"Martina C Cornel","doi":"10.1007/s12687-025-00778-3","DOIUrl":"10.1007/s12687-025-00778-3","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"1-3"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630913","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":"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":"<p><p>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.</p>","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}

{"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":"<p><p>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.</p>","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}

{"title":"Newborn screening in Brazil: realities and challenges.","authors":"Carolina Fischinger Moura de Souza, Tássia Tonon, Thiago Oliveira Silva, Tania A S S Bachega","doi":"10.1007/s12687-024-00762-3","DOIUrl":"https://doi.org/10.1007/s12687-024-00762-3","url":null,"abstract":"<p><p>Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program. Our findings indicate significant improvements in national screening coverage; however, notable disparities persist among different regions. States such as São Paulo, Minas Gerais, Paraná, Santa Catarina, and Brasilia (Federal District) demonstrate high efficiency and coverage rates, while Northern regions continue to face challenges. This study discusses the implications of these disparities and emphasizes the need for continuous efforts to achieve universal and effective neonatal screening across Brazil. The findings underscore the importance of enhancing health policies and resource allocation to ensure timely diagnosis and intervention for all newborns nationwide.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956655","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":"'Clarifying', 'assuming', and 'reducing' stigma: a commentary on stigma in genetics.","authors":"Gareth M Thomas","doi":"10.1007/s12687-024-00765-0","DOIUrl":"https://doi.org/10.1007/s12687-024-00765-0","url":null,"abstract":"<p><p>The concept of stigma has been applied across many disciplines. Within the context of health and illness, research on stigma tells familiar stories about the impact of a diagnosis on the lives of individuals and their families, and the perceived negative effects of stigma on them and their relationships. This can result in public and private efforts to 'reduce' stigma for certain social groups by raising awareness and sharing more positive stories about their lives. As the editors of this special issue recognise, researching the 'real' or 'imagined' stigmatisation of people with genetic conditions has a long history. However, research on stigma in the context of health and illness often suffers from three shortcomings: (1) the term 'stigma' is rarely clarified; (2) stigma is frequently assumed, and; (3) approaches to reduce stigma are presumed to be simple and without tension. My intention in this commentary is not to deny the very real impact of stigma on people's lives. Instead, I set out to inform how readers across the disciplines of biomedicine, genetic counselling, sociology, anthropology, bioethics, and psychology, among others, can comprehend and further consider the use of stigma as a concept, particularly for those interested in the lives of people with genetic conditions.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142910730","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":"Basic and translational research in rare diseases in low- and middle-income countries: challenges and solutions.","authors":"Graziella Rodrigues, Edina Poletto, Filippo Pinto E Vairo, Guilherme Baldo","doi":"10.1007/s12687-024-00759-y","DOIUrl":"https://doi.org/10.1007/s12687-024-00759-y","url":null,"abstract":"<p><p>In this document, we discuss the main difficulties faced by investigators in low- and middle-income countries (LMICs) and propose potential solutions. Challenges include the scarcity of experts in rare disorders, higher costs of supplies, underfunding, and limited patient advocacy groups. Establishing collaborations among patient advocacy groups, governments, investigators, and other stakeholders to create action plans can address many of these issues and promote research into rare diseases.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819665","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":"Sickle cell disease awareness and perception among Christian religious leaders in Accra Metropolis: a qualitative study.","authors":"Rebecca Okyere, Menford Owusu Ampomah, Gloria Achempim-Ansong, Luke Laari, Lillian Akorfa Ohene, Karl Atkin","doi":"10.1007/s12687-024-00738-3","DOIUrl":"10.1007/s12687-024-00738-3","url":null,"abstract":"<p><p>Sickle Cell Disease (SCD) is a severe hemoglobin gene mutation disorder inherited from both parents. 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S gene. Christian religious leaders may play a role in the prevention of SCD through the promotion of genetic counseling, genotype screening for premarital couples, and offering counseling to couples on prenatal screening and diagnosis for SCD. However, little is known about the awareness and perception of SCD among Christian religious leaders in Ghana, and this study aims to explore these. This study adopted a qualitative descriptive design to explore the awareness and perception of SCD among Christian religious leaders in the capital city of Ghana. A purposive sampling technique selected 16 participants from churches under the main Christian groups. The participants were chosen based on their roles and responsibilities within their respective churches. Data was collected using a semi-structured interview guide, which included open-ended questions to encourage participants to share their thoughts and experiences. The interviews were conducted in a private setting to ensure confidentiality. The data was then analyzed using a thematic analysis approach, which involved identifying recurring themes and patterns in the participants' responses. The study's findings are crucial. They reveal a high awareness of SCD among Christian religious leaders, but also some misconceptions. Most of the religious leaders knew SCD was a genetic disease, although a few associated SCD with superstitious beliefs, poor dietary intake, and lifestyle. Some also stated that SCD was a disease of the blood group instead of the defective haemoglobin gene. They perceived SCD to be burdensome, disruptive, and draining, and they associated the disease with burnout in Persons Living with SCD (PLWSCD) and their families. The religious leaders had a good social network with PLWSCD, including family, friends, colleagues, and congregants. These findings underscore the need for intense education about SCD, especially among Christian religious leaders. It is crucial to engage all stakeholders to intensify public awareness and education about SCD while improving the management and social support systems available to PLWSCD and families. This includes the religious institution's leadership, PLWSCD and families, the Ministry of Health, Ghana Health Service, and the Ghana Education Service. As active stakeholders, religious leaders can play a vital role in supporting PLWSCD if they are equipped with the necessary knowledge about the condition. .</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"641-652"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366920","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}