Journal of Community Genetics最新文献

{"title":"Identifying characteristics associated with genetic testing in the NICU.","authors":"Madison Rumsey, Sabrina Malone-Jenkins, Rachel Palmquist, Michael P Torre, Mallory R Sdano, Amy Baca, Con Yee Ling, Laila Andoni","doi":"10.1007/s12687-025-00780-9","DOIUrl":"https://doi.org/10.1007/s12687-025-00780-9","url":null,"abstract":"<p><p>Genetic testing is an integral part of Neonatal Intensive Care Unit (NICU) care. There are reported disparities in both NICU care and genetic testing related to race and language spoken. Identifying characteristics associated with genetic testing in NICUs could help detect patients who may benefit from genetic testing, as well as any current disparities. We sought to analyze characteristics of NICU admits who had genetic testing in general and specific test categories. Characteristics were requested from the Children's Hospital Neonatal Consortium database for patients admitted to Primary Children's Hospital's NICU in 2022. Statistical analysis was performed to determine if characteristics were more likely to result in genetic testing and if differences between those with genetic testing and those without were significant. All genetic test types were more likely ordered with genetic consultations. Cytogenetic testing was more likely in patients with a cardiology consult or who were Spanish-speaking. Patients who were of Hispanic origin were more likely to have molecular testing ordered. The average number of specialty consults for a patient was higher for those with genetic testing. Premature and low birthweight infants had longer time to genetic test ordering. No disparities were identified, which could be due to a small, homogenous sample. The differences with Spanish-speaking patients and those with mothers of Hispanic origin could be due to many factors, including consenting practices. It may be difficult to identify infants who might need genetic testing when they are low birthweight and/or premature. It is important to continue monitoring for differences in ordering practice for this vulnerable population.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674157","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":"Developing a questionnaire to explore lay people's preferences for communicating hereditary conditions within families: insights from a cognitive interview study.","authors":"Lea Godino, Linda Battistuzzi, Liliana Varesco, Daniela Turchetti, Vanessa Gentili, Paolo Chiari, Alvisa Palese","doi":"10.1007/s12687-025-00783-6","DOIUrl":"https://doi.org/10.1007/s12687-025-00783-6","url":null,"abstract":"<p><p>Cognitive interviews are a valuable qualitative method for developing and refining survey instruments, particularly on complex topics such as genetic health. They help address misunderstandings between intended meanings and respondent interpretations, enhancing data validity and ensuring comprehensibility. This study aimed to refine a questionnaire exploring the attitudes and preferences of the Italian general population regarding the communication of potential hereditary conditions within families. Through iterative testing, issues related to questionnaire instructions, question wording, and the sensitive nature of the topics were identified and addressed. Most concerns emerged in the first round of cognitive interviews, while the second round only required minor refinements. The qualitative analysis identified four key themes reflecting participants' challenges in understanding genetic information: (1) difficulties with genetic terminology, including gene names and scientific jargon, which induced anxiety and hindered comprehension; (2) ambiguities surrounding the terms \"genetic testing\" and \"family,\" with confusion about the nature of genetic testing and the scope of \"family\" in genetic contexts; (3) misinterpretations of \"genetic risk\" as an existing disease diagnosis rather than a probabilistic concept, leading to misunderstandings about the implications of genetic predisposition; and (4) conflation of \"authorization\" and \"responsibility\" in genetic communication, further complicated by uncertainty regarding privacy and confidentiality. Findings from this study informed targeted modifications to the questionnaire to enhance its clarity and accessibility. Our study highlights the importance of cognitive interviewing in refining survey tools on genetic communication, ensuring that such instruments effectively capture public perceptions and facilitate informed decision-making.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659143","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":"\"Hope at a better chance\": perspectives on genetic counseling and testing among black individuals with prostate cancer.","authors":"Breanne Prindeville, Brittany M Szymaniak, Samantha E Greenberg, Adam B Murphy, Ashley E Ross, Debra Duquette","doi":"10.1007/s12687-025-00785-4","DOIUrl":"https://doi.org/10.1007/s12687-025-00785-4","url":null,"abstract":"<p><p>Black individuals have the highest prostate cancer (PCa) incidence and mortality rates of any racial or ethnic group. Racial disparities persist in the understanding and uptake of genetics services, while the perspectives of Black individuals with PCa regarding genetic counseling and germline genetic testing for inherited cancer risk (GC/GT) remains understudied. This qualitative study explored attitudes, facilitators, and barriers to awareness, interest, and uptake of GC/GT among Black individuals with PCa. Eight individuals who self-identified as African American and/or Black with a personal history of PCa participated in individual telephone interviews using a semi-structured interview guide. Interview transcripts were analyzed using both an inductive and deductive coding approach, constant comparison, and selective coding. Five major themes were identified: (1) uncertainty surrounding personal relevance of GC/GT, (2) family influence and impact of GC/GT, (3) healthcare providers and institutions as gatekeepers of GC/GT, (4) community identity, influence, and impact of GC/GT, and (5) systemic barriers to GC/GT exemplify larger structural constraints. A key finding was the influence of community, a collective identity among Black individuals and a desire to benefit the Black community, in motivating research participation and pursuit of GC/GT to lessen racial disparities in PCa. Individual, interpersonal, institutional, community, and structural factors are both barriers and facilitators to awareness, interest, and uptake of GC/GT. Multilevel interventions such as communicating personal, familial, and community implications of GC/GT, improving patient-provider relationships and genetics education, and addressing systemic barriers are necessary to increase efficacy, utility, and equity in GC/GT.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143651351","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":"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":"https://doi.org/10.1007/s12687-025-00778-3","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630913","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":"A qualitative study to evaluate the preparedness of community paediatricians for genomic medicine in England - ready for take-off?","authors":"Sophie Marlowe, Melissa Hill, Michelle Peter, Celine Lewis","doi":"10.1007/s12687-025-00781-8","DOIUrl":"https://doi.org/10.1007/s12687-025-00781-8","url":null,"abstract":"<p><p>Genomic medicine (GM) was mainstreamed across the National Health Service (NHS) in England in 2018. Non-genetics healthcare professionals can now incorporate genomic testing including whole genome sequencing (WGS) into their clinical practice. This study was conducted to evaluate the preparedness of community paediatricians (CPs) for GM. Semi-structured interviews, using a topic guide informed by the Consolidated Framework for Implementation Research, were conducted with 17 CPs working in the NHS to explore issues related to preparedness and confidence. Data were analysed using thematic template analysis. The codebook included both inductive and deductive codes informed by the Capability, Opportunity and Motivation Behaviour model (COM-B), an implementation theory to explain behaviour change. The majority of participants perceived a net benefit from GM in terms of improving clinical management and information provision for patients and families and were receptive to using GM in their clinical practice. However, there was wide variation across trusts in CP preparedness for genomic medicine for reasons including lack of time and resources, notably workforce support. Many also lacked confidence in the skills required to deliver GM, and did not see GM as a priority. Most participants felt that they had access to GM education, but the main challenge was finding the time to engage with it. Strategies related to fiscal measures, enablement, training and education could help to address these early obstacles. Our findings may be relevant to clinicians in other non-genetic specialties integrating GM into their clinical practice not only in the UK NHS but more globally.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639656","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":"Trusted partners, community priorities, and data protections: requirements for precision medicine research with Alaska Native peoples.","authors":"R Brian Woodbury, Julie A Beans, Vanessa Y Hiratsuka","doi":"10.1007/s12687-025-00779-2","DOIUrl":"https://doi.org/10.1007/s12687-025-00779-2","url":null,"abstract":"<p><p>Precision medicine holds promise for improving health care by tailoring disease treatment and prevention efforts to the needs of individual patients. It also raises ethical questions related to equitable distribution of the benefits of precision medicine; data management, including the terms of data ownership, sharing, and security; and, the nature and extent of community engagement in and oversight of research. These questions are particularly salient for minoritized communities that have been harmed by unethical research practices and often deprived the full benefit of advances in medical science. Understanding the perspectives of these communities is essential to the design and conduct of ethical and effective precision medicine research. This study explored perspectives on the acceptability, feasibility, value, and benefits and harms of precision medicine research among Alaska Native and American Indian (ANAI) peoples. We conducted four focus groups with ANAI individuals who receive primary care from a Tribal health organization in Anchorage, Alaska. Participants were willing to engage in precision medicine research provided specific requirements were met. Research must be conducted by the Tribal health organization or another trusted partner, community health priorities must drive the research agenda, and researchers must employ robust data protections to guard against loss of data security and maintain control over data use and access. These requirements work collectively to ensure research benefits and respects Tribal sovereignty. These findings could help inform efforts to design and implement precision medicine research programs tailored to concerns of ANAI peoples.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543956","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":"The other side of variant transthyretin amyloidosis with polyneuropathy: psychosocial experience of members of Portuguese families with late onset of the disease.","authors":"José D Pereira, Andreia Santos, Eugenia Cisneros-Barroso, Intissar Anan, Marina S Lemos, Milena Paneque","doi":"10.1007/s12687-025-00776-5","DOIUrl":"https://doi.org/10.1007/s12687-025-00776-5","url":null,"abstract":"<p><p>This study is the first to explore the psychosocial experience of members of Portuguese families with late-onset variant transthyretin amyloidosis with polyneuropathy (A-ATTRv-PN). Based on a constructivist worldview, this phenomenological investigation followed a qualitative approach by conducting eight interviews and analyzing qualitative data. The main results suggest that the psychosocial experience of the members of families interviewed is marked by: (a) a delayed awareness of the family disease (viz., in adulthood), (b) psychosocial impacts (viz., emotional and other impacts related to work, parenting, caregiving) experienced and anticipated in an adult phase of the life cycle, and (c) the use of approach strategies (e.g., seeking information about A-ATTRv-PN and seeking social support) and/or avoidance strategies (e.g., avoiding seeking information and talking to others about the condition) with a view to accommodating A-ATTRv-PN in personal and family life. These results differ from the life trajectories of members of Portuguese families with A-ATTRv-PN described previously and extend previous scientific evidence on the psychosocial experience of members of families where the disease typically appears late, contributing to further study on this topic and to the optimization of genetic counseling practices and health policies that respond to the psychosocial needs of members of Portuguese families with late onset of the condition. Future studies should continue to deepen our understanding of the psychosocial experience of this population to improve the clinical response provided to patients, families, and caregivers.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460039","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":"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}