Journal of Community Genetics最新文献

Hereditary conditions can pose several challenges to the individual and their family members. In addition to the symptoms of the condition itself, stigmatisation is often described by those who live with hereditary conditions as a major challenge. This study explores the stigmatisation experiences of people with inherited conditions and their families in Portugal. Seventeen semi-structured interviews were conducted with individuals affected with a hereditary condition, asymptomatic carriers and family members, recruited through patient support organizations and social media. The data were analysed through inductive content analysis, resulting in three major categories: (i) stigmatisation contexts; (ii) psychosocial impacts; and (iii) coping strategies to deal with the stigma. The findings suggest the perception of stigma in family and social life, including specific contexts and systems such as academic, work, health care, social security and insurance. The stigma is associated with embarrassment, sadness, and frustration at the personal level, and with social impacts such as isolation, interpersonal distance, and avoidance of relationships. Participants often resort to providing explanations about their condition and to social isolation as a coping strategy for dealing with stigma. This study provides insights that reinforce the continuous need to raise awareness about hereditary conditions at a societal level and their associated impacts, to provide specific training for healthcare professionals on the potential stigma attached to inherited conditions, and to implement national strategies to reduce stigmatisation.

This article presents the outcomes of a national initiative aimed at developing a technical document to support the future Italian National Genomic Strategy, carried out from 2021 to 2024 through the collaboration of 14 research institutions. The project was designed to align with major European genomic initiatives, particularly the "1 + Million Genomes" (1 + MG) Declaration and its supporting programs, including Beyond 1 Million Genomes (B1 + MG), the Genomic Data Infrastructure (GDI), and Genome of Europe (GoE). The initiative was structured around 12 National Mirror Groups (NMGs), each addressing a specific domain such as clinical implementation, ethical and legal issues, data governance, health economics, and public engagement. Through expert consensus and coordinated activities, the project produced a comprehensive technical document outlining seven strategic lines and related intervention areas. These include the integration of genomic testing into clinical practice, development of specialized genomic centers, creation of a national genomic data infrastructure, professional training, and public education. The proposed strategy emphasizes equitable access to genomic medicine, the use of health technology assessment to evaluate new technologies, and the importance of citizen engagement and literacy. By fostering collaboration among institutions, healthcare professionals, and the public, the final goal is to position Italy as a leader in genomic medicine and ensure the responsible, effective, and ethical use of genomics in public health and clinical care.

The Comcáac (also known as Seri) are an indigenous community from the central coast of the Sonoran Desert in Mexico. Genetic studies conducted on this population since the late 1990s have revealed marked genetic differentiation resulting from pronounced genetic drift caused by a historical bottleneck, which is consistent with anthropological and linguistic records. Research has examined allele frequencies and genetic variants associated with cirrhosis risk, pathogen adaptation, forensic markers, vitamin and sugar metabolism, body mass index, immune responses, cytochrome genes, genetic distances with other groups, and migration patterns. While early investigations relied on classical genetic approaches, more recent studies have employed omics technologies, including whole-genome sequencing. Analyses of the Comcáac genome provide valuable insights into the phenotypic traits and medical predispositions of this community.

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.

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.

Sickle cell disease (SCD) is a significant genetic disorder that imposes a considerable global health burden. The notable prevalence of SCD in Tanzania, coupled with extensive economic, psychological, and social ramifications, underscores the importance of premarital genetic screening to carriers of the sickle cell trait. This study aimed to assess the determinants of perception and willingness to uptake premarital genotype screening test for sickle cell disease carriers (PMGS) among health sciences undergraduate students in Dar es Salaam, Tanzania. An analytical cross-sectional design was used among 470 undergraduate students selected using a stratified random sampling technique. A structured questionnaire was used to collect data using Google Forms. Data were analyzed using the Statistical Package for the Social Sciences, version 25. Descriptive and inferential statistical analyses were performed. A total of 448 questionnaires were completed and submitted, with a response rate of 95.3%. More than half of the students (57.24%) had a good perception of PMGS, and the majority (92.2%) expressed their intention to participate in PMGS. Respondents who received information from healthcare professionals had a significant association (p = 0.031) with good perception. Most students were willing to participate in the PMGS program. As healthcare students, they are an important group in the development of national screening programs; similar studies in other universities in Tanzania are needed to obtain representative samples of undergraduates nationwide.

Genetic testing is now routinely recommended for autism and/or intellectual disability (ID), but how parents deal with the uncertainties that may be involved has not been explored. We interviewed 28 parents who had received results identifying de novo genetic variants responsible for their offspring's autism. Parents faced six broad types of ambiguities concerning: cause of the de novo variant, likelihood of medical manifestations, children's future independence and support needs, availability of future medical benefits/treatments, potential social benefits and potential social harms. These ambiguities prompted anxiety/stress. Parents tried to manage these uncertainties in several ways: focusing on the child's immediate needs, seeking more information, seeking bases of comparison in other children, monitoring for future symptoms (and often enlisting others to do so), seeking metaphors and conceptual frameworks to understand uncertainties, making and accepting trade-offs, and participating in research. Several factors influence these uncertainties and responses, including age/life-stage of the child, psychological factors, concerns about the future of the broader healthcare and insurance systems, potential differences due to geography (e.g., local variations in medical, social and educational services available) and scientific background and literacy. Members of a couple also often perceive and respond to these issues differently. These data, the first to examine the ambiguities that arise when receiving genetic diagnoses for their autistic offspring with ID, reveal the key roles of several social factors and have important implications for future research, education of families, and training and practice of healthcare providers, teachers, social service agencies, policymakers and others.

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.

Confirming a genetic diagnosis of cystic fibrosis (CF) for clinically affected individuals should be more accessible today, with more laboratories offering testing and improved technologies at lower costs. Instead, diagnostic testing for CF has become more complex due to the variety of genetic testing options available for the one known causative gene (CFTR). This article provides an overview of genetic tests currently available for CF in six laboratories in South Africa. Also, it demonstrates the evolution of CF tests used at one private laboratory in the country via a ten-year retrospective study. The findings of this study may serve as a guide for healthcare providers in selecting appropriate testing for CF diagnostic or carrier genetic confirmation. The choice of genetic test and methodology depends on individualised factors such as the ethnic origin of the patient, test availability, advantages and limitations, and cost. The ethnic diversity of South Africa's populations and probable under-reporting of CF in the country make the diagnosis of this relatively common genetic condition complex. The actual burden of CF in South Africa is unknown, and comprehensive genetic testing, with an ongoing compilation of patient data in the South African CF registry, should assist in addressing the genetic diversity of CF-causing variants.