Journal of Community Genetics最新文献

{"title":"Building a National Policy for Rare Disease in Brazil.","authors":"Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz","doi":"10.1007/s12687-024-00732-9","DOIUrl":"10.1007/s12687-024-00732-9","url":null,"abstract":"<p><p>Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their families. In Brazil RD is defined by the Ministry of Health as a disorder that affects up to 65 individuals in 100,000, or 1.3 individuals in every 2,000. In this review the environment that led to the publication of a National Policy for Comprehensive Care for People of Rare Disease in 2014, a national plan with the aim to decrease morbidity and mortality of RD, improving the care of people with RD in the public health system are described. The process that finally led to such policy took over a decade, moving forward not only due to technical needs, but having patient organizations as essential actors and advocates. Specialized centers in RD were licensed and, since its publication, 33 centers have been accredited; such process, however, has been slow and concentrated in specific regions and larger cities of the country. Despite the incorporation of genetic tests in 2014 and exome sequencing later in 2020, many genetic tests are not offered by specialized centers, with unequal availability across the country. Public health system in Brazil uses ICD-10 for disease coding, preventing appropriate epidemiologic knowledge of RD in Brazil. Incorporation of new technologies as orphan drugs has been in place and regulation for expedite licensing for new RD drugs were issued, although high cost and availability to RD population has been a challenge.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"389-396"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12321720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336835","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":"Age-specific uptake of non-invasive prenatal tests (NIPT) in Germany: a decision theory-based analysis.","authors":"Michael Krawczak, Bernd Eiben, Sebastian Sendel, Amke Caliebe, Lidewij Henneman, Ralf Glaubitz, Heike Borth, Jörg Schmidtke","doi":"10.1007/s12687-025-00822-2","DOIUrl":"https://doi.org/10.1007/s12687-025-00822-2","url":null,"abstract":"<p><p>Non-invasive prenatal testing (NIPT) for fetal chromosomal aberrations is an important component of healthcare systems worldwide, albeit with varying diagnostic coverage and conditions of use. In Germany, NIPT primarily focuses on trisomies 21, 18 and 13, for which the test costs are reimbursed by the statutory health insurance after thorough prior counseling. Despite this rather restrictive approach compared to other countries, concerns continue to be raised in Germany that young pregnant women, in particular, who are at a low risk of fetal aneuploidy, may have been overly encouraged to undergo NIPT. However, a decision theory-based analysis of the NIPT uptake figures in Germany suggests that there is currently no evidence that avoiding the birth of a trisomic child is a strong motivation particularly of younger women to take the test. Instead, the nation-wide NIPT uptake figures are exceptionally well in line with the corresponding age-specific prior risks. Notably, no such agreement was found when we considered the Netherlands as an example of a healthcare system where NIPT covers additional chromosomal aberrations without age-dependent risk. Replication of our analysis in other countries will reveal whether a strong consistency between age-specific prior risk and NIPT uptake is unique to Germany, or not.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691924","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":"Achieving the vision of genomics to improve health for all requires a focus on diversity, equity and inclusion.","authors":"Muin J Khoury, Colleen M McBride, Martina C Cornel","doi":"10.1007/s12687-025-00823-1","DOIUrl":"10.1007/s12687-025-00823-1","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676154","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":"Self-assessed knowledge of genomic medicine among non-genetics physicians - results from a nationwide Swedish survey.","authors":"Joar Björk, Mikaela Friedman, Amy Nisselle, Maria Johansson Soller, Charlotta Ingvoldstad Malmgren","doi":"10.1007/s12687-025-00818-y","DOIUrl":"https://doi.org/10.1007/s12687-025-00818-y","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144660753","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":"Attitudes of parents of children with rare neurological disorders towards clinical genetic testing.","authors":"Kamran Salayev, Ulviyya Guliyeva, Sugra Guliyeva, Rauan Kaiyrzhanov, Ulviyya Aslanova, Narmin Hajiyeva, Henry Houlden, Kerim Munir","doi":"10.1007/s12687-025-00815-1","DOIUrl":"https://doi.org/10.1007/s12687-025-00815-1","url":null,"abstract":"<p><p>To study attitudes among parents of probands with rare pediatric-onset neurological and neurodevelopmental disorders on Clinical Genetic Testing (CGT). We administered an 8-item direct structured questionnaire comprising statements regarding attitudes on CGT to 101 consenting parents of probands enrolled in the University College London (UCL) Central Asia and Transcaucasia Disease Diversity Project. The probands comprised pediatric-onset diseases that included cerebral palsy, epilepsy, severe physical, language, and intellectual developmental delays, and autism spectrum symptoms in children with rare neurological disorders. We studied correlations between parents' opinions and demographic and clinical characteristics. The majority of parents (82.1-91.9%) agreed on statements reflecting the positive effects of CGT (causal explanation, research support, treatment relevance, recurrence prevention, and family planning). The opinions on the negative effects (discrimination, parental concern, and family conflicts) were less uniform. A higher educational level of parents was negatively correlated with agreement on statements about causal explanation, research support, and family planning (p < 0.05). Individual concurrent symptoms (severe language delay, epilepsy, autism, and microcephaly) correlated with several statements (p < 0.05). Parents showed positive attitudes toward clinical genetic testing. Parents' educational level was the most significant factor influencing their opinions. The spectrum and severity of clinical symptoms may shape the attitudes of the parents toward individual aspects of CGT.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144561491","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":"Enhancing care coordination for neurofibromatosis type 1 in primary care: insights and applications for rare diseases.","authors":"William Evans, Jaynee Chauhan, Aliza Imam, Judith Hayward","doi":"10.1007/s12687-025-00811-5","DOIUrl":"https://doi.org/10.1007/s12687-025-00811-5","url":null,"abstract":"<p><p>Patients with rare diseases often encounter significant challenges, including poor coordination of healthcare services. The UK Rare Disease Framework emphasizes key priorities such as faster diagnoses, greater awareness among healthcare professionals, improved care coordination, and better access to specialist care. This National Health Service (NHS) project, based in the North East and Yorkshire Genomic Medicine Service (GMS), aimed to improve care coordination for patients with rare genetic diseases in primary care. The project focused on developing a generic clinical pathway to improve care coordination and transitions of care that could be applied to a range of rare diseases. Additionally, it sought to strengthen the integration between genomic services and primary care, fostering a more cohesive approach to patient management. The project mapped clinical care pathways for two exemplar rare genetic diseases, Achondroplasia and Neurofibromatosis type 1 (NF1), this paper describes the NF1 pathway and broader learning from this project. The pathways focussed on identifying common clinical touchpoints with primary care and transitions between primary and specialty care. Key findings included the identification of gaps in care coordination, particularly during the transition from paediatric to adult services, and the development of a set of principles and a template for mapping other rare diseases. Feedback from a wide range of stakeholders, including clinicians across specialties and patient representatives, informed the refinement of the pathways. This project illustrates a systematic approach to enhancing care coordination for patients with rare genetic diseases through the mapping of clinical pathways and the development of primary care resources. The principles and template created can be adapted for other rare diseases, enabling the development of concise, disease-specific pathways. By prioritizing care coordination and transitions, and engaging a wide range of stakeholders in the process, this approach offers significant potential to improve the management of rare disease patients, especially during the critical transition from paediatric to adult care.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555316","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":"Exploring the role of germline genetic testing in surgical decision making for early-stage invasive breast cancer: insights from a safety-net hospital.","authors":"Vineeth Kommidi, Manasa Kotamraju, Keerthana Chakka, Sharlene Dong, Alexa Badalamenti, Caitlin Mauer Hall, Ashley Quinn, Emily Goff, Chul Ahn, Ang Gao, Deborah Farr, Samira Syed","doi":"10.1007/s12687-025-00806-2","DOIUrl":"https://doi.org/10.1007/s12687-025-00806-2","url":null,"abstract":"<p><p>Current guidelines recommend contralateral prophylactic mastectomy (CPM) for women with unilateral breast cancer who have pathogenic/likely pathogenic variants (PV) in high-risk genes, but not for those with variants of uncertain significance (VUS). However, VUS results can cause significant psychosocial distress, which may influence surgical decision-making. In safety-net settings, concerns about insurance coverage and additional social determinants of health may further impact CPM decisions. This study examines surgical trends among patients with early-stage invasive breast cancer who underwent genetic testing before surgery at a safety-net hospital in Dallas, Texas between 2012-2022. We performed a retrospective chart review of 300 early-stage breast cancer patients referred for genetic counseling, analyzing demographics, tumor characteristics, genetic testing results, and treatment. Descriptive statistics and regression analyses were performed. The cohort included 116 patients without mutations (control), 111 with VUS, and 73 with PV. 86.30% of PV patients, 30.63% of VUS patients, and 18.10% of the control group underwent CPM. Multivariate analysis identified PV (OR 26.35, 95% CI: 10.97-63.29, p < 0.0001), VUS (OR 2.35, 95% CI: 1.16-4.77, p = 0.0175), and age at diagnosis (OR 0.963, 95% CI: 0.934-0.993, p = 0.0168) as independent predictors of CPM. These findings suggest that factors beyond established guidelines may influence surgical decision-making, particularly for patients in safety-net hospital settings, underscoring the need for thorough provider and patient counseling.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144530345","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":"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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659143","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":"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":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674157","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}