Barriers and facilitators for cascade testing in genetic conditions: a systematic review

Cascade testing is the process of offering genetic counseling and testing to at-risk relatives of an individual who has been diagnosed with a genetic condition. It is critical for increasing the identification rates of individuals with these conditions and the uptake of appropriate preventive health services. The process of cascade testing is highly varied in clinical practice, and a comprehensive understanding of factors that hinder or enhance its implementation is necessary to improve this process. We conducted a systematic review to identify barriers and facilitators for cascade testing and searched PubMed, CINAHL via EBSCO, Web of Science, EMBASE, and the Cochrane Library for articles published from the databases’ inception to November 2018. Thirty articles met inclusion criteria. Barriers and facilitators identified from these studies at the individual-level were organized into the following categories: (1) demographics, (2) knowledge, (3) attitudes, beliefs, and emotional responses of the individual, and (4) perceptions of relatives, relatives’ responses, and attitudes toward relatives. At the interpersonal-level, barriers and facilitators were categorized as (1) family communication-, support- and dynamics-, and (2) provider-factors. Finally, barriers at the environmental-level relating to accessibility of genetic services were also identified. Our findings suggest that several individual, interpersonal and environmental factors may play a role in cascade testing. Future studies to further investigate these barriers and facilitators are needed to inform future interventions for improving the implementation of cascade testing for genetic conditions in clinical practice.Subject terms: Preventive medicine, Genetic services     

Short or Long Sleep Duration and CKD: A Mendelian Randomization Study

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Social support and self-esteem on the association between stressful life events and mental health outcomes among college students

ABSTRACT

The purpose of this research is to determine whether social support (informal and formal) and self-esteem can moderate the associations between life stress and mental health among college students.     

Concomitants of menopause-specific quality of life in premenopausal and post-menopausal women living in South Korea

ABSTRACT

The present study investigated the concomitants of menopause-specific quality of life among premenopausal and postmenopausal women. Based on the Wilson and Cleary model of quality of life, this cross-sectional study recruited 329 women of age 40–65 years following operational convenience. The study was conducted in the office of the Korea Population, Health and Welfare Association (KPHWA) in Incheon, South Korea. Data collected on sociodemographic characteristics, social support, biological/physiological characteristics, the Pittsburgh Sleep Quality Index (PSQI-K), and self-rated health. Menopause-specific quality of life questionnaire (MENQOL) was used in this study. Hierarchical multiple linear regression analysis was performed. The study found that social support and self-rated health were negatively correlated with MENQOL in premenopausal women, while the income level and self-rated health were negatively associated with MENQOL in postmenopausal women. Sleep quality was positively correlated with MENQOL in both premenopausal and postmenopausal women. The study results indicate the need for tailored approaches based on menopausal status. Especially, social support may help improve the MENQOL of premenopausal women, while in postmenopausal women, improved sleep quality may enhance their menopause-specific quality of life.     

The Association Between Physical Activity and Cataracts Among 17,777 People Aged 15–69 Years Residing in Spain

ABSTRACT

Purpose

The aim of the present study was to assess the association between levels of physical activity (PA) and the presence of cataracts in people aged 15–69 years residing in Spain.     

Association Between Patient and Physician Sex and Physician-Estimated Stroke and Bleeding Risks in Atrial Fibrillation

Background

Physicians treating nonvalvular atrial fibrillation (AF) assess stroke and bleeding risks when deciding on anticoagulation. The agreement between empirical and physician-estimated risks is unclear. Furthermore, the association between patient and physician sex and anticoagulation decision-making is uncertain.