Genetic testing has the power to identify individuals with increased predisposition to disease, allowing individuals the opportunity to make informed management, treatment and reproductive decisions. As genomic medicine continues to be integrated into aspects of everyday patient care and the indications for genetic testing continue to expand, genetic services are increasingly being offered by non-genetic clinicians. The current complexities of genetic testing highlight the need to support and ensure non-genetic professionals are adequately equipped with the knowledge and skills to provide services. We describe a series of misdiagnosed/mismanaged cases, highlighting the common pitfalls in genetic testing to identify the knowledge gaps and where education and support is needed. We highlight that education focusing on differential diagnoses, test selection and result interpretation is needed. Collaboration and communication between genetic and non-genetic clinicians and integration of genetic counsellors into different medical settings are important. This will minimise the risks and maximise the benefits of genetic testing, ensuring adverse outcomes are mitigated.
Humans ; Missed Diagnosis ; Genetic Testing ; Educational Status ; Diagnosis, Differential ; Genotype

BACKGROUND: Health screening is a preventive and cost-effective public health strategy for early detection of diseases. However, the COVID-19 pandemic has decreased health screening participation. The aim of this study was to examine regional differences in health screening participation between before and during COVID-19 pandemic and vulnerabilities of health screening participation in the regional context. METHODS: Administrative data from 229 districts consisting of 16 provinces in South Korea and health screening participation rate of each district collected in 2019 and 2020 were included in the study. Data were then analyzed via descriptive statistics and geographically weighted regression (GWR). RESULTS: This study revealed that health screening participation rates decreased in all districts during COVID-19. Regional vulnerabilities contributing to a further reduction in health screening participation rate included COVID-19 concerns, the population of those aged 65+ years and the disabled, lower education level, lower access to healthcare, and the prevalence of chronic disease. GWR analysis showed that different vulnerable factors had different degrees of influence on differences in health screening participation rate. CONCLUSIONS These findings could enhance our understanding of decreased health screening participation due to COVID-19 and suggest that regional vulnerabilities should be considered stringent public health strategies after COVID-19.
Humans ; COVID-19/epidemiology* ; Pandemics ; Republic of Korea/epidemiology* ; Educational Status ; Disabled Persons

BACKGROUND: There is substantial evidence on the association between lower education and unhealthy behaviors. However, the mechanism underlying this association remains unclear. This study aimed to examine whether income, health literacy, and social support mediate the association between education and health-related behaviors. METHODS: A questionnaire survey was conducted in metropolitan areas in Japan from 2010 to 2011 among residents aged 25-50 years. Data from 3663 participants were used in this study. Health literacy was measured using the Communicative and Critical Health Literacy scale. Health-related behaviors were current smoking, poor dietary habits, hazardous drinking, and lack of exercise. Poisson regression analyses with robust variance estimators were conducted to examine the associations between education and these health-related behaviors. Multiple mediation analyses were conducted to estimate the magnitudes of the mediating effects of income, health literacy, and social support on these associations. RESULTS: Less educated participants had higher risks of all unhealthy behaviors. Income mediated the associations of education with smoking (6.4%) and exercise (20.0%). Health literacy mediated the associations of education with dietary habits (15.4%) and exercise (16.1%). Social support mediated the associations of education with dietary habits (6.4%) and exercise (7.6%). The education-drinking association was mediated by income in the opposite direction (-10.0%). The proportions of the total effects mediated by income, health literacy, and social support were 9.8% for smoking, 24.0% for dietary habits, -3.0% for drinking, and 43.7% for exercise. CONCLUSIONS These findings may provide clues for designing effective interventions to reduce educational inequalities in health-related behaviors.
Humans ; Japan ; Health Behavior ; Educational Status ; Exercise ; Surveys and Questionnaires ; Health Literacy ; Cognition

OBJECTIVES: Clinical research plays a vital role in disease research and population health. The public is the main source of clinical research volunteers. Understanding the public's cognition of clinical research plays a decisive role in the development of clinical research. This study aims to understand the Chinese public's cognition for clinical research and the influencing factors. METHODS: The questionnaire based on Chinese-translated Public Awareness of Research for Therapeutic Advancements through Knowledge and Empowerment (PARTAKE) was used to investigate the public's cognition for clinical research. RESULTS: Of the 2 513 valid respondents, 91.84% had heard of "clinical research", 91.76% of the respondents believed that clinical research was beneficial to society, 65.90% were willing to participate in clinical research, 87.50% believed that confidentiality was a very important thing, 73.70% believed that their personal information had been protected when participating in clinical research, and, 46.40% did not know whether volunteers participating in clinical research could receive adequate compensation. Educational levels, employment status, and annual income impacted in public perceptions of willingness to participate in clinical research, especially in privacy protection, informed consent, whether clinical research is intended for society, compensation for clinical research, and safety of clinical research (all P<0.01). CONCLUSIONS The Chinese public's cognition level for clinical research is acceptable, but there is still a lot of room for improvement in privacy protection, informed consent, and compensation. By designing a reasonable knowledge training program for clinical research and using the multimedia, improving access to the relevant knowledge, more public will know about clinical research recruitment information, which is of great significance for the development of clinical research in China.
Humans ; China ; East Asian People ; Educational Status ; Surveys and Questionnaires ; Public Opinion ; Knowledge ; Biomedical Research

INTRODUCTION: In this study, we aimed to identify the differences in sociodemographic variables and reasons for termination of pregnancy (TOP) between married women and single/divorced women. We hope that this study can guide future policies and interventions to reduce the incidence of unsupported pregnancies in this profile group of women. METHODS: We retrospectively evaluated the sociodemographic data of 802 women who underwent an abortion for social reasons at our institution in Singapore from January 2016 to September 2018. We compared the sociodemographic variables, reasons for and methods of TOP between married and single/divorced women. RESULTS: We analysed data from 524 married women (65.3%) and 278 single/divorced women (34.7%). Married women were more likely to be of older age (29.5 years vs. 24.5 years, P < 0.001), had more living children and higher educational qualifications. The top two cited reason for abortions among married women were having enough children (42.0%) and the inability to afford another child (18.7%). Multivariate analysis showed that women aged >19 years and having more living children were independently associated with recurrent TOPs. Having a tertiary education was noted to be associated with less recurrent TOPs. CONCLUSION The most common reasons married women cited for having TOP include having enough children and the lack of financial capacity to afford another child. Recommendations to support women ought to be personalised and comprehensive in addressing their needs rather than offering a standardised support method. Greater emphasis should be placed on post-TOP family planning counselling to reduce repeated TOP.
Pregnancy ; Child ; Female ; Humans ; Retrospective Studies ; Singapore/epidemiology* ; Abortion, Induced ; Hospitals, University ; Educational Status

OBJECTIVES: To study the impact of the home literacy environment on children's emotional regulation skills and the mediating role of the parent-child relationship between them. METHODS: A stratified cluster sampling approach was employed to select 1 626 preschool children from five kindergartens in Nanjing. Questionnaires were used to collect detailed information on the home literacy environment, children's emotional regulation skills, and the parent-child relationship. A mediation model was established using the Process program in SPSS macro, and the significance of the mediation effect was tested using the Bootstrap method. RESULTS: The findings revealed a positive correlation between the home literacy environment and children's emotional regulation skills (r=0.217, P<0.001), as well as parent-child intimacy (r=0.065, P<0.01). Conversely, a negative correlation was found between the home literacy environment and parent-child conflict (r=-0.129, P<0.001). Additionally, parent-child conflict demonstrated a negative correlation with children's emotional regulation skills (r=-0.443, P<0.001), while parent-child intimacy exhibited a positive correlation (r=0.247, P<0.001). The home literacy environment exerted a significant direct effect on children's emotional regulation skills (β=0.162, P<0.001), and the mediating effect of the parent-child relationship accounted for 25.54% of the total effect. CONCLUSIONS The home literacy environment significantly influences children's emotional regulation skills, with the parent-child relationship partially mediating this relationship.
Child, Preschool ; Humans ; Literacy ; Reading ; Emotional Regulation ; Parent-Child Relations ; Educational Status

BACKGROUND: Campus environments are associated with undergraduate weight. However, few studies have examined campus type and geographic location in relation to student weight. This article aimed to identify college/university students with elevated BMIs by campus type and region. METHODS: Linear mixed effects regression models were fit to data from the American College Health Association-National College Health Assessment II. Analyses tested associations between campus type/region and student self-reported BMI. RESULTS: The sample included 404,987 students from 445 schools with mean BMI 24.9 ± 5.8. Across all school types/regions, BMI confidence intervals included overweight values. Two-year and public school students had higher BMIs compared to four-year and private school students, respectively. Students in the Midwest had higher BMIs compared to students in the Northeast. In the South only, Minority Serving Institution (MSI) students had higher BMIs compared to non-MSI students. CONCLUSION Healthy weight maintenance programs should be made available to undergraduate students.
Body Mass Index ; Educational Status ; Humans ; Schools ; Students ; United States ; Universities

Cytomegalovirus Infections/prevention & control* ; Educational Status ; Humans ; Mass Screening ; Research

Objective: To explore the trajectory of disability in the dying elderly in China. Methods: Based on the activity of daily living (ADL) data from the 2002-2018 Chinese Longitudinal Healthy Longevity Survey, the longitudinal item response theory (LIRT) model was fitted with the difficulty threshold parameters to analyze the ADL loss in the elderly in China. Then, a mixed-effects model was fitted to analyze the trajectory of the disability level of the dying elderly. Results: A total of 5 817 old adults who entered the cohort in 2002 were included, in whom 41.81% were males, with a baseline age of (86.80±12.40) years and a follow-up time of 4 (3,8) years. The results of LIRT showed that the lowest difficulty threshold parameter in the basic activity of daily living (BADL) was partially disability on bathing (0.41±0.05), and the highest was entirely disability on indoor movement (6.19±0.16). In comparison, the lowest difficulty threshold parameter in instrumental activity of daily living (IADL) was partially disability on using public transportation (-3.01±0.07), and the highest was entirely disability on visiting neighbors (1.51±0.07). In the trajectory of disability, the average dependency in ADL was lower in dying men than in dying women (P<0.001), in the elderly living alone than in the elderly living with family members (P<0.001) and in the non-illiterate elderly than in the illiterate elderly (P<0.001). The estimated value of both the linear change rate and quadratic coefficient of disability level development with time were 0.231 (P<0.001) and 0.002 (P<0.001). Conclusions: In China, the development of disability in the elderly in China has its characteristics, IADL disability might occurs earlier than BADL. Among the IADL/BADL items, the disability of lower limb-based items is more prone to occur compared with upper limb-based items, and the disability of complex items is more prone to occur compared with simple items, and the growth rate of the disability trajectory also accelerates over time. It is necessary to pay attention to old women, old people living with family members, old people with low education level and old people with poor cognitive function in the disability prevention.
Adult ; Aged ; Male ; Female ; Humans ; Aged, 80 and over ; Cohort Studies ; China/epidemiology* ; Activities of Daily Living ; Educational Status ; Health Status

Objective: To evaluate the association between grip strength (GS) and cognitive function in a population-based longitudinal cohort of Chinese adults aged ≥50 years. Methods: The study population of 3 600 adults was from the baseline survey and two rounds of follow up of World Health Organization (WHO) study of global ageing and adult health (SAGE) in five districts of Shanghai (Hongkou, Huangpu, Minhang, Qingpu and Pudong) after excluding individuals with self-report stroke and depression. The effects of baseline GS on cognitive function and its changes were evaluated. Factor analysis was applied to generate an overall cognition score based on verbal recall trials, verbal fluency test, forward digit span test and backward digit span test. Linear mixed effects model was used to examine the predictive capability of baseline GS for changes in cognitive function. Results: A total of 3 600 participants aged (61.2±8.1) years at baseline survey were included in this study, including 1 668 (46.3%) men and 1 932 (53.7%) women. The average of baseline GS and total cognitive function score were (28.19±12.18) kg and (58.93±14.56) respectively. Cognitive function score declined significantly during the follow-up, however, the changes were different among different age groups, education level groups and household income groups. After adjusted for age, education level, marital status, household income, co-morbidity of chronic conditions, drinking status, smoking status, physical activity level, vegetable/fruit intakes and BMI, no relationships between the baseline GS and cognitive score at baseline survey and at 1^st follow-up were observed, however, compared with lower GS quartile group, there was a significant relationship between higher baseline GS level and better cognitive function at 2^nd follow-up. The participants with highest GS quartile had better cognitive performance over time (male: β=1.938,95%CI:0.644-3.231,P=0.003, female: β=2.192,95%CI:0.975-3.409,P<0.001 and those aged 50-64 years: β=1.652,95%CI:0.646-2.659,P=0.001) than those with the lowest quartile. Conclusions: Higher baseline GS was significantly related to better cognitive function with slow decline. Thus, it is an indicator of cognitive function in middle-aged and elderly Chinese.
Adult ; Aged ; Middle Aged ; Female ; Humans ; Male ; Prospective Studies ; China/epidemiology* ; Hand Strength ; Cognition ; Educational Status