Search Results (37)

Background: This study aimed to assess the illness perceptions of patients diagnosed with hypertension from a primary care perspective. It also sought to identify the sociodemographic and clinical factors associated with illness perception. Methods: A cross-sectional descriptive study was conducted between February and March 2025, involving 116 hypertensive patients who attended family medicine outpatient clinics at Rize Training and Research Hospital, Turkey. Data were collected using a sociodemographic questionnaire and the Brief Illness Perception Questionnaire (BIPQ). Nonparametric tests, including the Mann–Whitney U test, Kruskal–Wallis H test with Dunn’s post hoc analysis, and Spearman’s correlation analysis, were employed to evaluate the data. Results: The mean age of the participants was 69.01 ± 6.07 years, with 76.7% of the participants aged over 65 years. The median total BIPQ score was 47.0, indicating a moderate illness perception. A significant negative correlation was observed between age and the total BIPQ score (Rho = −0.443, p < 0.001). Higher illness perception levels were significantly associated with lower educational attainment, shorter duration of antihypertensive treatment, and attribution of hypertension to stress, genetic predisposition, diet, and occupational factors (p < 0.05). Conclusions: Illness perceptions among patients with hypertension are shaped by various sociodemographic and clinical determinants. Enhancing awareness of these perceptions in primary care may support improved treatment adherence and better health outcomes. Interventions that strengthen health literacy and offer psychosocial support may contribute to more effective hypertension management. Full article

Background: Pharmacogenetics (PGx) is the science of assessing how genetic variation affects drug efficacy, tolerability, and safety. While PGx is an emerging discipline which is becoming standard of care, many providers have misunderstandings about its utility. This is even more of a problem for patients, who may perceive that there is a single drug that is “right” for them. The primary objective of this study was to evaluate consumer comprehension of a newly developed patient-facing PGx report. Methods: In this study, we adapted a commercial pharmacogenetic test (Genomind Professional PGx) into a report intended to be more comprehensible to the consumer. The initial translation of the clinical terminology used in the PGx report, into lay terminology was conducted by PharmDs and PhDs who have collectively provided over 20,000 PGx consults to date. These reports were then evaluated with readability scoring software to ensure each translation’s complexity remained ≤8th-grade reading level. A total of 107 participants were recruited to conduct the initial analysis with a goal of achieving a 90% comprehension rate using the Genomind consumer comprehension survey. These participants were also given a modified Minnesota Assessment of Pharmacogenomic Literacy (MAPL™) both before and after the Genomind comprehension survey to assess overall PGx literacy. Results: Ninety-eight (98) out of 107 research participants scored one or zero questions incorrectly, translating to >90% comprehension score on the Genomind consumer comprehension survey. These participants also demonstrated a significant increase in overall pharmacogenetic literacy, as assessed by MAPL after viewing the consumer report and survey. Conclusions: This study found that translating pharmacogenetic test results into lay language may provide individuals with a greater understanding of how their DNA may impact prescribed medications. Full article

Objective: This study aimed to explore the emotional, social, and ethical dimensions of early or presymptomatic diagnosis in individuals with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Methods: A total of 118 participants diagnosed with ADPKD were recruited from a tertiary nephrology center in Türkiye. Data were collected via a 22-item structured and open-ended questionnaire. Chi-square and non-parametric statistical tests were used to assess associations between awareness, attitudes, and demographic variables. Results: Although only 10% of participants reported direct disadvantages from their diagnosis, such as difficulties in employment, insurance, or relationships, many voiced concerns about stigma and long-term uncertainties. Genetic awareness was significantly associated with increased likelihood of recommending family screening (p = 0.022), and higher educational attainment correlated with greater disease knowledge (p < 0.01). Despite emotional burden, 71.2% of participants reported adopting lifestyle modifications, and 79.6% expressed willingness to screen their children, though often with ethical hesitation. Conclusions: While early diagnosis of ADPKD may offer clinical benefits, it also introduces complex psychosocial and ethical dilemmas. These findings highlight the importance of integrating patient-centered counseling, clear communication strategies, and supportive policies to ensure informed decision making and mitigate potential harms. Full article

Biodiversity is fundamental to ecosystem stability and sustainability, yet its global decline underscores the urgent need for effective education to foster awareness and conservation efforts. This study evaluates the biodiversity knowledge of higher education students at ISEC Lisboa and examines the influence of academic content on their understanding. A mixed-methods approach was applied, combining a structured survey with curriculum analysis. The survey, distributed among 149 students across different academic programs, assessed their perception, awareness, and knowledge of biodiversity. Statistical analysis, including Chi-square tests, was conducted to identify significant differences between study areas. The findings reveal that only 4.87% of the curricular units incorporate biodiversity-related content, and students primarily associate biodiversity with species richness rather than ecosystem complexity or genetic diversity. Despite expressing strong agreement as to the importance of biodiversity, most participants demonstrated limited knowledge of species’ conservation status. No significant differences in biodiversity knowledge were found across academic disciplines, suggesting that content within the curriculum remains insufficient. These results highlight the need for a more integrative and interdisciplinary approach to biodiversity education in higher education institutions. Strengthening hands-on learning experiences and incorporating biodiversity themes across various disciplines could enhance students’ ecological literacy and engagement in conservation efforts. Full article

Background: Genetic and genomic literacy is pivotal in empowering cancer patients and citizens to navigate the complexities of omics sciences, resolve misconceptions surrounding clinical research and genetic/genomic testing, and make informed decisions about their health. In a fast-evolving scenario where routine testing has become widespread in healthcare, this scoping review sought to pinpoint existing gaps in literacy and understanding among cancer patients and the general public regarding genetics and genomics. Methods: Adhering to the PRISMA framework, the review included 43 studies published between January 2018 and June 2024, which evaluated the understanding of genetics and genomics among cancer patients, caregivers, and citizens. Results: Although the selected studies had significant heterogeneity in populations and evaluation tools, our findings indicate inadequate literacy levels, with citizens displaying lower proficiency than cancer patients and caregivers. This review highlighted consistent knowledge gaps in understanding the genetic and genomic underpinnings of diseases, encompassing misconceptions about mutation types and inheritance patterns, limited awareness of available genetic testing options, and difficulties in interpreting test results. Ethical and privacy concerns and the psychological impact of genetic testing were also common, highlighting the imperative need for effective communication between healthcare providers and patients. Conclusions: Given the dynamic nature of genomic science, the review underscores the need for continuously evolving educational programs tailored to diverse populations. Our findings could guide the development of educational resources addressed explicitly to cancer patients, caregivers, and the lay public. Full article

Gene editing contributes to enhancing food security through the creation of novel foods. However, public perception of gene-edited (GE) foods is crucial to their acceptance and adoption. This study expanded the knowledge–attitude–practice model and constructed an integrated framework comprising four dimensions: demographic factors, scientific literacy and beliefs, social trust, and perceptions of gene technology, aimed at explaining the public’s attitudes toward GE foods. A questionnaire survey was conducted (N = 649), revealing a positive attitude toward GE foods, with over 80% expressing a certain willingness to pay (WTP) for them. Factors such as income level, subjective knowledge, scientific beliefs, trust in scientists, trust in government, and trust in national technological capabilities and perceived benefits positively correlated with WTP. Conversely, objective knowledge, perceived risks, and perceived ethical concerns were negatively correlated with WTP. The impact of objective knowledge on attitudes toward GE foods demonstrated a significant, nonlinear relationship. Additionally, it is noteworthy that the Chinese public currently exhibits relatively low trust in national technological capabilities, necessitating vigilance against the emergence of conspiracy theories akin to those surrounding genetically modified foods. This research contributes theoretical insights into the public communication of GE foods. Full article

In an era of swift technical advancement, the confluence of digital technology, security, and the digital economy bears substantial implications. This research aims to investigate the complex interplay among patient rights, genetic testing, and cloud computing, with a particular emphasis on the legal contexts that govern these fields. Individuals must possess the ability to properly interact with health-related information and understand the economic components of digital platforms. Genetic testing and cloud computing are two areas where these literacies overlap, presenting distinct difficulties and opportunities. Legal considerations cover a wide range of issues, from data privacy and security to regulatory compliance and intellectual property rights. There are also implications for long-term economic growth, particularly in the area of health and well-being. A special economic zone exists at the Hainan Free Trade Port. In addition, this research explores how digital technologies may improve healthcare while considering the security precautions and ethical issues that must be taken to promote sustainable development through genetic testing. It also looks at how genetic data can be used to provide individualized economic outcomes and the roles that artificial intelligence and privacy play in these intertwined domains. The emergence of Web 2.0 has brought about a significant transformation in the digital realm, enabling individuals, businesses, and communities to leverage cutting-edge technologies for benefits in the social, economic, and environmental spheres, and advance sustainable progress. This study examines the opportunities and challenges presented and offers insights into the development of strong legal frameworks and moral standards, as well as the responsible application of these innovations for the benefit of society as a whole. This research will highlight how crucial it is to foster a more sustainable future through digital inclusivity, cooperative problem-solving, data-driven decision-making, and worldwide sustainable practices. Full article

The optimal structural design is imperative in order to minimize material consumption and reduce the environmental impacts of construction. Given the complexity in the formulation of structural design problems, the process of optimization is commonly performed using artificial intelligence (AI) global optimization, such as the genetic algorithm (GA). However, the integration of AI-based optimization, together with visual programming (VP), in building information modeling (BIM) projects warrants further investigation. This study proposes a workflow by combining structure analysis, VP, BIM, and GA to optimize trusses. The methodology encompasses several steps, including the following: (i) generation of parametric trusses in Dynamo VP; (ii) performing finite element modeling (FEM) using Robot Structural Analysis (RSA); (iii) retrieving and evaluating the FEM results interchangeably between Dynamo and RSA; (iv) finding the best solution using GA; and (v) importing the optimized model into Revit, enabling the user to perform simulations and engineering analysis, such as life cycle assessment (LCA) and quantity surveying. This methodology provides a new interoperable framework with minimal interference with existing supply-chain processes, and it will be flexible to technology literacy and allow architectural, engineering and construction (AEC) professionals to employ VP, global optimization, and FEM in BIM-based projects by leveraging open-sourced software and tools, together with commonly used design software. The feasibility of the proposed workflow was tested on benchmark problems and compared with the open literature. The outcomes of this study offer insight into the opportunities and limitations of combining VP, GA, FEA, and BIM for structural optimization applications, particularly to enhance structural efficiency and sustainability in construction. Despite the success of this study in developing a workable, user-friendly, and interoperable framework for the utilization of VP, GA, FEM, and BIM for structural optimization, the results obtained could be improved by (i) increasing the callback function speed between Dynamo and RSA through specialized application programming interface (API); and (ii) fine-tuning the GA parameters or utilizing other advanced global optimization and supervised learning techniques for the optimization. Full article

The role of genetic counselors is evolving in response to health-related direct-to-consumer genetic tests (DTC-GT). While there is consensus in the literature that pre- and post-DTC-GT genetic counseling would benefit consumers, genetic counselors have reservations about DTC-GTs, and there is a paucity of research on providing DTC-GT counseling. This pilot quantitative survey is the first study to examine Canadian genetic counselors’ views on DTC-GTs and how this disruptive biotechnology affects their role, and consumer informed consent and privacy. Canadian genetic counselors are cognizant of the harm to informed consent and privacy associated with DTC-GT, but are hesitant to engage directly, wary of misusing clinical time and resources. However, counselors are open to producing educational materials on DTC-GTs and collaborating with other stakeholders and the DTC-GT industry to support consumers. In this study, practical considerations for DTC-GT counseling sessions are discussed, including the unique needs of DTC-GT patients and the challenges posed by DTC-GTs to the genetic counseling duty to inform. This research benefits genetic counselors and physicians by examining how best to utilize genetic counselors’ skills in the DTC-GT context, to minimize burdens on the healthcare system and support DTC-GT consumers. Full article

Primary care gynecologists are increasingly integrated into the care of patients with hereditary breast and ovarian cancer (HBOC) risks. These physicians should not only have basic genetic knowledge; they should also feel able to sensitively address an increased HBOC risk and deal with emotional, stressful situations in this context. Our project aimed at developing a training module, ‘iKNOWgynetics’, addressing psychosocial challenges in the context of HBOC care for primary care gynecologists. We developed the psychosocial training module in three phases: first, we conducted an online survey with n = 35 women with a family history of breast or ovarian cancer to assess patients’ experiences and needs. Second, based on the results of the needs assessment, we developed the training module. Third, we evaluated the training by assessing physicians’ (n = 109) self-efficacy with regard to communication skills in the context of HBOC before and after the training. In the needs assessment, seven psychosocial themes emerged. These themes, complementing a review of the literature, informed the training curriculum. The training was divided into two parts: (1) communicating with women before genetic testing and (2) care co-management for women with HBOC after genetic testing. After the training, participants reported a significant increase in self-efficacy in three domains: communicating empathetically, educating patients in a comprehensible way and dealing with emotionally challenging situations. Our results highlight the relevance of psychosocial issues for patients with HBOC. A genetic literacy training module that integrates aspects of psychosocial care increases physicians’ confidence in dealing with emotionally challenging situations before and after their patients’ genetic testing. Thus, such trainings may improve the care of women with hereditary cancer risks. Full article

Agriculture is essential to the existence of the human race, as well as the foundation of our civilization, because it provides food, fuel, fiber, and other resources necessary for survival; however, it is facing critical challenges due to anthropogenic climate change, which hampers food and nutritional security. Consequently, the agriculture industry must adjust to farming issues, such as the shift in global temperatures and environmental degradation, the scarcity of farm workers, population growth, and dietary changes. Several measures have been implemented to enhance agricultural productivity, including plant breeding, genetic engineering, and precision agriculture. In recent years, the world has witnessed the burgeoning development of novel scientific innovations and technological advancements enabled by drones, smart sensors, robotics, and remote sensing, resulting in a plethora of revolutionary methods that can be applied to real-time crop modeling, high-throughput phenotyping, weather forecasting, yield prediction, fertilizer application, disease detection, market trading, farming practices, and other environmental practices vital to crop growth, yield, and quality. Furthermore, the rise in big data, advanced analytics, falling technology costs, faster internet connections, increased connectivity, and increases in computational power are all part of the current digitalization wave that has the potential to support commercial agriculture in achieving its goals of smart farming, resilience, productivity, and sustainability. These technologies enable efficient monitoring of crops, soil, and environmental conditions over large areas, providing farmers with data to support precise management that optimizes productivity and minimizes environmental impacts. Though smart farming has significant potential, challenges like high implementation costs, data security concerns, and inadequate digital literacy among farmers remain. In summary, agriculture is rapidly transforming from conventional to digital farming, offering global solutions, efficient resource utilization, and minimized input costs while fostering farmer livelihoods and economic growth. Delivering a comprehensive view of how technology could help in tackling critical issues like environmental degradation and threatened world biodiversity, this perspective emphasizes the perks of digitalization. Future advancements may involve data encryption, digital literacy, and particular economic policies. Full article

Objectives: The purpose of this scoping review was to identify the risk factors and screening uptake for prostate cancer. Design: Scoping review. Methods: Arksey and O’Malley’s framework guided this review; five databases (Cumulative Index to Nursing and Allied Health Literature (CINAHL), MEDLINE, PsycINFO, Academic Search Complete and Cochrane Library) and grey literature were searched. Screening was undertaken against predetermined inclusion criteria for articles published before July 2023 and written in English. This review is reported in line with PRISMA-Sc. Results: 10,899 database results were identified; 3676 papers were removed as duplicates and 7115 papers were excluded at title and abstract review. A total of 108 papers were full-text reviewed and 67 were included in the review. Grey literature searching yielded no results. Age, family history/genetics, hormones, race/ethnicity, exposure to hazards, geographical location and diet were identified as risk factors. Prostatic antigen test (PSA), digital rectal examination (DRE), transrectal ultrasound (TRUS), magnetic resonance imaging (MRI), magnetic resonance spectroscopic imaging (MRSI) and prostate biopsy were identified as screening/diagnostic methods. The evidence reviewed highlights moderate knowledge and screening uptake of prostate cancer with less than half of men reporting for PSA screening. On the other hand, there is a year-to-year increase in PSA and DRE screening, but factors such as poverty, religion, culture, communication barriers, language and costs affect men’s uptake of prostate cancer screening. Conclusion: As prostate cancer rates increase globally, there is a need for greater uptake of prostate cancer screening and improved health literacy among men and health workers. There is a need to develop a comprehensive prostate cancer awareness and screening programme that targets men and addresses uptake issues so as to provide safe, quality care. Strengths and limitations of this study: (1) A broad search strategy was utilised incorporating both databases and grey literature. (2) The PRISMA reporting guidelines were utilised. (3) Only English language papers were included, and this may have resulted in relevant articles being omitted. Full article

Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling of SMA carriers. This study aims to quantify the various genotypes among parents of children with SMA. Method: A retrospective cohort study was undertaken at Sydney Children’s Hospital Network, the major SMA referral centre for New South Wales, Australia. Participants included children with genetically confirmed SMA born between 2005 and 2021. Data was collected on parent genotype inclusive of copy number of SMN1 exons 7 and 8. The number of SMN2 exon 7 copies were recorded for the affected children. Descriptive statistics were used to determine the proportion of carriers of 2+0 genotype classified as silent carriers. Chi-square test was used to correlate the association between parents with a heterozygous SMN1 exon 7 deletion and two copies of exon 8 and ≥3 SMN2 copy number in the proband. Results: SMA carrier testing was performed in 118/154 (76.6%) parents, incorporating 59 probands with homozygous SMN1 deletions and one proband with compound heterozygote pathogenic variants. Among parents with a child with SMA, 7.6% had two copies of SMN1 exon 7. When only probands with a homozygous SMN1 exon 7 deletion were included, 6.9% of parents had two copies of SMN1 exon 7. An association was observed between heterozygous deletion of SMN1 exon 7 with two copies of exon 8 in a parent and ≥3 SMN2 copy number in the affected proband (p = 0.07). Conclusions: This study confirmed a small but substantial proportion of silent carriers not identified by conventional screening within an Australian context. Accordingly, the effectiveness of carrier screening for SMA is linked with genetic counselling to enable health literacy regarding high and low risk results and is complemented by new-born screening and maintaining clinical awareness for SMA. Gene conversion events may underpin the associations between parent carrier status and proband SMN2 copy number. Full article

Knowledge of genetics is essential for understanding the results of genetic testing and its implications. Recent advances in genomic research have allowed us to predict the risk of onset of common diseases based on individual genomic information. It is anticipated that more people will receive such estimates of risks based on their genomic data. However, currently, there is no measure for genetic knowledge that includes post-genome sequencing advancements in Japan. In this study, we translated the genomic knowledge measure in the International Genetics Literacy and Attitudes Survey (iGLAS-GK) into Japanese and validated it in a general Japanese adult population (n = 463). The mean score was 8.41 (SD 2.56, range 3–17). The skewness and kurtosis were 0.534 and 0.088, respectively, and the distribution showed a slightly positive skewness. Exploratory factor analysis proposed a six-factor model. Results for 16 of the 20 items of the Japanese version of the iGLAS-GK were comparable to those from previous studies in other populations. These results indicate that the Japanese version is reliable and can be used to measure the genomic knowledge of adults in the general population, and this version of the knowledge measure maintains the multidimensional structure for assessing genomic knowledge. Full article

Since the Human Genome Project’s completion in 2003, the need for increased population genetic literacy has grown exponentially. To address this need, public health professionals must be educated appropriately to serve the public best. This study examines the current state of public health genetics education within existing master of public health (MPH) programs. A total of 171 MPH Council on Education for Public Health Accreditation (CEPH)-accredited programs across the nation were identified via a preliminary internet search. The American Public Health Association (APHA) Genomics Forum Policy Committee created 14 survey questions to assess the current status of incorporating genetics/genomics education within MPH programs. Using the Qualtrics survey system through the University of Pittsburgh, a link to the anonymous survey was sent to each director’s email address obtained from their program’s website. There were 41 survey responses, with 37 finished to completion, for a response rate of 21.6% (37/171). A total of 75.7% (28/37) of respondents reported having courses containing genetics/genomics information in their programs’ coursework. Only 12.6% reported such coursework to be required for program completion. Commonly listed barriers to incorporating genetics/genomics include limited faculty knowledge and lack of space in existing courses and programs. Survey results revealed the incongruous and limited incorporation of genetics/genomics within the context of graduate-level public health education. While most recorded programs report offering public health genetics coursework, the extent and requirement of such instruction are not considered necessary for program completion, thereby potentially limiting the genetic literacy of the current pool of public health professionals. Full article