Journal of Community Genetics最新文献

{"title":"Expedited workflow for autism spectrum disorder in a pediatric genetics clinic.","authors":"Claire Barton, Gauri Anand, Jodi Hoffman","doi":"10.1007/s12687-025-00812-4","DOIUrl":"https://doi.org/10.1007/s12687-025-00812-4","url":null,"abstract":"<p><p>With increasing demand for access to genetic services and the American College of Medical Genetics and Genomics' (ACMG) recommendation that individuals with autism spectrum disorder (ASD) and developmental delay be offered genetic evaluation, alternative service models for genetic care are needed to increase efficiency. Web-based tools have enhanced access to clinical genetics content and services, particularly for patients with common referral indications such as ASD. The Boston Medical Center pediatric genetics clinic reports on the creation of an Expedited ASD Genetics Clinic (EAGC) which includes a waiting room questionnaire, educational video, physical examination, and blood work for genetic testing. The educational video, created in English and Spanish, mirrors the genetic testing educational content of a typical genetics visit for ASD. As the EAGC allows for more patients to be seen per clinic session, the number of visits with ICD-10 F84.0 (ASD) increased from 18 patients seen October to December 2022 to 32 patients seen October to December 2023. There was also a significant decrease between the number of days from referral to first offered appointment date for the patients with ASD seen in the EAGC compared to all new patients, regardless of referral reason, seen October to December 2022 ([Formula: see text]). This decreased wait time for an appointment for ASD-related genetic testing increases access to genetics services for this patient population.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144486600","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 impact of the three major human genome editing reports on the governance landscape.","authors":"John Conley, Alexandra Robinson, Rachel Wilson, Kristine Kuczynski, Gail Henderson","doi":"10.1007/s12687-025-00809-z","DOIUrl":"https://doi.org/10.1007/s12687-025-00809-z","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144303226","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 UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening.","authors":"Sara M Rankin, Lucy Marskell, Lina Hamad, Laura Machin","doi":"10.1007/s12687-025-00788-1","DOIUrl":"https://doi.org/10.1007/s12687-025-00788-1","url":null,"abstract":"<p><p>Countries in the Global North use biochemical tests to screen for at least 20 diseases in newborns, while in the UK, only 10 diseases are screened for. The United Kingdom National Screening Committee (UKNSC) is the entity responsible for making recommendations to the government with regards to which conditions should be included in the Newborn Screening (NBS) programme. Examination of the meeting minutes of the UKNSC between 2015 and 2022 revealed that no new diseases were recommended for NBS during this period. If there was no 'effective treatment' for the disease it was rejected for NBS. In 2022, the Newborn Genomes Programme (NGP) was announced; a research study aiming to screen for over 223 rare genetic diseases using whole genome sequencing technology in newborns. While this could lead to a seismic expansion of NBS in the UK, many of the diseases included in the programme are currently considered 'actionable' rather than 'treatable' conditions. This poses an ethical conundrum for the UKNSC, which is involved in both NBS and NGP, given that it has thus far made recommendations against the expansion of the NBS programme using available biochemical assays, contrary to what has been implemented in other countries in the Global North. In this paper, we aim to critically examine the processes and circumstances that have held back the expansion of the NBS programme in the UK, as compared with other countries, focusing on the period 2015-2022, when no new diseases were added to the UK NBS programme, and contrast them with the drivers that have led to the support and funding for the NGP during this same time.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267599","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 stigma of seriousness: views of genome editing scientists and policy professionals on defining serious disease.","authors":"Margaret Waltz, Michael A Flatt, R Jean Cadigan","doi":"10.1007/s12687-025-00808-0","DOIUrl":"https://doi.org/10.1007/s12687-025-00808-0","url":null,"abstract":"<p><p>In international policy discussions, \"serious disease\" is frequently used as a criterion for appropriate uses of human genome editing technology, despite the lingering imprecision of its definition and its potential to stigmatize those with genetic conditions. Drawing from interviews conducted with genome editing scientists and members of governance groups attempting to influence policy, our findings provide empirical evidence of the lack of shared definitions of serious disease and highlight challenges of relying on the term. The difficulty in defining serious disease among those influencing the translation of genome editing research points to the need to recognize community context and lived experiences as part of the measurement of seriousness. This is particularly true when considering that for some diseases, the development of therapeutic gene editing may introduce or exacerbate stigma or discrimination for those with the conditions. Including the perceptions of serious disease among those with lived experience of genetic conditions can help guide ethical policies and enable the genome editing community to avoid imposing the views of those in power as to what constitutes serious.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267598","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":"Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases.","authors":"Franciele Barbosa Trapp, Mariluce Riegel, Kristiane Michelin-Tirelli, Layzon Antonio Lemos da Silva, Gabrielle Dineck Iop, Fernanda Bender-Pasetto, Fernanda Medeiros Sebastião, Inamara da Silva Moraes, Franciele Fátima Lopes, Osmar Rachor Toledo Dos Santos, Fernanda da Rosa Pereira, Laysla Pedelhes Silva, Andrius Anselmi Luiz, Cleiton Amaral da Silva, Karen Daniela Piccoli Lucas, Alice Brinckmann Oliveira Netto, Carolina Serpa Brasil, Sandra Leistner, Ana Carolina Brusius-Facchin, Marion Deon, Gabriel Eduardo Santiago Civallero, Roberto Giugliani","doi":"10.1007/s12687-025-00805-3","DOIUrl":"https://doi.org/10.1007/s12687-025-00805-3","url":null,"abstract":"<p><p>To contribute to the diagnosis of genetic metabolic diseases in Brazil, an innovative model of networks has been set up, aiming to provide information and testing of high-risk patients, free of charge, to doctors and services from Brazil and other countries. Particularly, our group set up the MPS (mucopolysaccharidoses), IEM (inborn errors of metabolism) and LSD (lysosomal storage diseases) networks. This paper describes the structure, services provided, and results obtained by the LSD Brazil Network (LBN) during its first 10 years of operation.The LBN has a core group that is responsible for the operation, guidance, logistics of sample collection and transportation, as well as test reports and information materials. The diagnostic investigation was performed in several laboratories affiliated to the program, all established in Porto Alegre, Brazil. The first ten years of operation of the LBN (2013-2022) were reviewed in detail. Over 10 years, 26,489 patients were investigated, and 27 LSDs were confirmed in 1,320 patients (4.98%). Comparing the first period of 5 years with the second one, there was a decrease in the number of requests, probably reflecting the impact of the COVID-19 pandemic. Interestingly, the same comparison indicated that there was an increase of 46% in the rate of diagnosis, possibly due to the improved selection of suspected cases. The model developed by the LBN, aiming to increase awareness and to remove barriers to diagnostic tests, suggests that the implementation of reference networks seems to be a suitable alternative to foster the diagnosis of LSDs, especially in developing countries, where resources and facilities are scarce.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144200425","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":"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":"351-362"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","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":"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":"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":"363-372"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","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":"Lack of provision of social and emotional information about Down syndrome associated with negative prenatal diagnosis experiences.","authors":"Stephanie Meredith, Harold L Kleinert, Jian Li, Sierra Weiss, Jonathan Drummond","doi":"10.1007/s12687-025-00801-7","DOIUrl":"10.1007/s12687-025-00801-7","url":null,"abstract":"<p><p>To determine how physician adherence to recommended practices for discussing Down syndrome (DS) impacts patient experiences, and which of these recommendations most correlate with positive prenatal patient experiences. Online surveys were distributed to mothers of children with DS born between 2016-2021. The descriptions of prenatal experiences were assigned sentiment analysis scores: positive, negative, or neutral. The scores were then compared against the adherence of clinicians to recommended practices for delivering prenatal screening results. Of the 167 patients in this study, over 50% described a negative experience. The odds of having a neutral/positive diagnosis experience were about 18 times greater for those patients whose physicians adhered to all seven social recommendations. The odds of having a positive/neutral screening experience were 11.4 times greater for those patients whose physicians adhered to both emotional recommendations (not saying \"I'm sorry\" or conveying the diagnosis as bad news\"). Most of the variance in the patient diagnosis experience was attributed to adherence to emotional recommendations and social recommendations. To meet the needs of patients, obstetricians need to address emotional, social, and informational needs by providing 1) access to balanced and accurate information about disabilities and 2) being better trained on sensitive communications.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"243-254"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081354","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":"Genomics as part of Portuguese undergraduate nursing programs: are we moving in the right direction?","authors":"Maria João Silva, Maria do Céu Barbieri-Figueiredo, Marcia Van Riper, Milena Paneque","doi":"10.1007/s12687-025-00787-2","DOIUrl":"10.1007/s12687-025-00787-2","url":null,"abstract":"<p><p>The integration of genomics into nursing education has been a growing focus in recent years, as the role of genomics in healthcare continues to expand. Although the fundamental role of nurses in integrating genomic information into patient care is well-documented in the literature, studies have consistently highlighted significant gaps in nurses' understanding of these topics, impacting their ability to provide comprehensive care. This study aims to explore how genomic knowledge is taught in Portuguese undergraduate nursing education at a national level. A deductive content analysis was performed on explicit genomic content in each course specification within the nursing programs. A total of 478 course descriptions from 12 nursing programs were analyzed. Of these, only 25 courses (5.2%) explicitly referenced genomic content. Results reveal significant variability across programs, with some covering a considerable number of genetic topics, while others showed minimal or no coverage of genomic topics. Results also show that topics related to basic molecular biology and fundamental genetic principles tend to be more emphasized in nursing curricula compared to those focused on psychosocial aspects or patient-centered care. This inconsistency highlights the lack of a standardized approach to integrating genomics into nursing education. These findings suggest that the current approach to Portuguese nursing education is insufficient for preparing nurses to effectively address genomic issues in patient care and research. This research argues for a more systematic, early, and consistent integration of genomics across all nursing programs to ensure that future nurses are well-equipped to meet the challenges of modern healthcare, ultimately improving patient outcomes.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"255-266"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732225","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":"Quality education as a cornerstone of community genetics.","authors":"Elisa J Houwink","doi":"10.1007/s12687-025-00794-3","DOIUrl":"10.1007/s12687-025-00794-3","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"217-219"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006449","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}