Journal of Community Genetics最新文献

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.

Sickle Cell Disease (SCD) presents a major public health burden in India, particularly among tribal communities. This scoping review synthesizes evidence from the past decade to identify a few key challenges in the screening, treatment, and management of SCD. Initially, 219 studies were screened, and 26 studies met the inclusion criteria. Thematic analysis revealed systemic obstacles across all domains. Screening efforts are hindered by inadequate infrastructure, low awareness, stigma, and inconsistent coverage, especially in remote regions. Treatment barriers include poor access to hydroxyurea, lack of trained providers, and reliance on traditional medicine due to cost and accessibility. Management is further complicated by irregular follow-up, weak referral systems, limited community engagement, and socio-economic constraints. Despite national initiatives, fragmented implementation and the absence of culturally sensitive, data-driven strategies have curtailed impact. This review highlights the urgent need for policy reforms focused on improving diagnostics, expanding community-based care, strengthening healthcare workforce capacity, and integrating digital health systems. A holistic, community-centered, and equity-driven approach is essential to address persistent gaps and improve outcomes for adults living with SCD in India.

The impact of rare diseases, like Krabbe disease (KD), collectively affecting millions worldwide, is a public health genetics issue. Because disparities in management and prognosis are often associated with health literacy levels, patient education materials (PEMs) must be accessible to parents who frequent the internet to learn about diagnoses and follow-up. This study aimed to assess accessibility and suitability of online KD resources, using results to provide recommendations for resource improvement.A Google search was conducted utilizing common search terms to identify patient-centered KD resources. Resource content was compared against an author-developed list of essential information for families. Reviewers assessed readability, using Flesch-Kincaid (FK) and Simple Measure of Gobbledygook (SMOG) formulas, and suitability utilizing the Suitability Assessment of Materials (SAM) Tool and the Patient Education Materials Assessment Tool (PEMAT).All resources included a description, symptoms, and genetics of KD. Four resources discussed genetic counseling; two mentioned next steps. Most resources (10/12) had readability scores above the recommended sixth to eighth grade levels for PEMs. The average FK and SMOG scores were 10.6 and 12.5, respectively. Eleven of twelve resources rated 'adequate' or higher using the SAM Tool. PEMAT understandability and actionability scores ranged from 55.1% to 94.1% and 0% to83.3%, respectively, due to lack of graphics and interactivity. No resource met all criteria.Although easy to navigate, resources struggled using clear, common language, utilizing graphics appropriately, promoting interactivity, and presenting concrete next steps. Resource development should focus on implementing post-diagnosis action steps and improving understanding by using common terminology and graphics to promote better care of individuals with KD.

Newborn screening (NBS) is a public health initiative (PHI) that identifies newborns with critical health conditions or deafness, allowing for intervention or life-saving treatments. Information regarding NBS education following homebirths is limited. We sought to understand homebirth parents' NBS experiences. Interview participants were recruited from Facebook through a screening questionnaire. An interpretivist paradigm was employed through narrative analysis, deriving themes from the life-experiences of homebirth clients about provision/abnegation from NBS. Five domains were identified after reading transcripts and appreciating common interviewee experiences. Subsequently, interviews were inductively double coded to highlight subthemes classified into each narrative domain. The narrative domains are: Birth Setting, Birth Plan, NBS, Misconceptions, and Education. Birth Setting highlights themes impacting both hospital and homebirth settings. Decisions about subsequent birth setting were influenced frequently by themes classified within narrative domains of Birth Plan and NBS. Finally, client stories highlight a reported desire for greater Education. This need is also apparent due to the presence of Misconceptions regarding NBS. All five narrative domains are interdependent with aspects of each impacting client perceptions and actions within other domains. Misconceptions breed mistrust; fostering greater psychological safety through comprehensive consent discussions- exploring client goals and understanding -may increase trust in PHIs. Consent should focus on the purpose and abilities of NBS; thus, reducing risk perception and enhancing understanding of its benefits in both homebirth and hospital settings. Paired written and oral communication, multidisciplinary care leveraging genetic counselors, and focused continuing medical education for midwives and prenatal providers may further improve NBS.

Polygenic risk scores (PRS) have emerged as a potential tool for predicting complex genetic traits and disorders, which may complement traditional rare variant testing. As genome-wide association studies (GWAS) expand, PRS predictive accuracy improves, yet its role in clinical genetics remains undefined. Here, we discuss four scenarios for PRS integration into diagnostic workflows: (1) PRS as a first-tier screen to stratify patients for rare variant testing; (2) parallel testing with whole-genome sequencing (WGS) to capture both rare and common variant contributions; (3) selection between PRS and rare variant testing guided by clinical characteristics; and (4) PRS application in rare variant-negative cases to identify likely polygenic etiologies. We highlight different trade-offs of each approach, which include costs, turnaround time, diagnostic efficiency, and risk of secondary findings. While PRS shows promise in conditions with both monogenic and polygenic contributions, challenges remain in defining risk thresholds, equal accuracy across (non-European) ancestries, and integrating PRS into clinical decision-making. Although not yet standard practice, we envision PRS is likely to play an increasing role in genetic diagnostics, necessitating collaboration between clinicians and laboratory geneticists to optimize its application.

Advances in genetics and genomics have enabled personalized medicine, requiring genetic knowledge among professionals and the public to adequately interpret results. Evaluating university students' knowledge and attitudes about genetics and genomics is crucial, as this key demographic can influence public health outcomes. This cross-sectional study utilized the Public Understanding and Attitudes towards Genetics and Genomics (PUGGS) questionnaire, including demographics, knowledge about gene-environment interactions and modern genetics and genomics, and attitudes concerning gene therapy and genetic testing. Participants were selected using the convenience sampling method. Surveys were completed by 776 students from diverse academic disciplines enrolled at two universities in Greater Guayaquil, Ecuador. The median number of correct responses was 9/19 (49%) for the total cohort indicating an intermediate level of genetic knowledge, with healthcare students scoring slightly higher than those in engineering and social sciences. While participants showed strong comprehension of gene-environment interactions and gene regulation, their grasp of epigenetic concepts was weaker. Although attitudes toward genetic testing were generally positive, reservations emerged regarding human genetic enhancement and alterations to natural genetic structures, particularly among social science students. The identified gaps in knowledge and perceptions highlight opportunities for educational interventions. Future studies should track long-term progress and evaluate courses modernizing outdated concepts, clarifying genome structure, and exploring gene therapy ethics.