The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

Recently, we have witnessed the rapid translation into clinical practice of non-invasive prenatal testing for the common aneuploidies, most notably within the United States and China. This represents a lucrative market with testing being driven by companies developing and offering their services. These tests are currently aimed at women with high/medium-risk pregnancies identified by serum screening and/or ultrasound scanning. Uptake has been impressive, albeit limited to the commercial sector. However, non-invasive prenatal diagnosis (NIPD) for single-gene disorders has attracted less interest, no doubt because this represents a much smaller market opportunity and in the majority of cases has to be provided on a bespoke, patient or disease-specific basis. The methods and workflows are labour-intensive and not readily scalable. Nonetheless, there exists a significant need for NIPD of single-gene disorders, and the continuing advances in technology and data analysis should facilitate the expansion of the NIPD test repertoire. Here, we review the progress that has been made to date, the different methods and platform technologies, the technical challenges, and assess how new developments may be applied to extend testing to a wider range of genetic disorders. © 2013 John Wiley & Sons, Ltd.     

Psychosocial drivers of land management behaviour: How threats,norms, and context influence deforestation intentions

Understanding how private landholders make deforestation decisions is of paramount importance for conservation. Behavioural frameworks from the social sciences have a lot to offer researchers and practitioners, yet these insights remain underutilised in describing what drives landholders’ deforestation intentions under important political, social, and management contexts. Using survey data of private landholders in Queensland, Australia, we compare the ability of two popular behavioural models to predict future deforestation intentions, and propose a more integrated behavioural model of deforestation intentions. We found that the integrated model outperformed other models, revealing the importance of threat perceptions, attitudes, and social norms for predicting landholders’ deforestation intentions. Social capital, policy uncertainty, and years of experience are important contextual moderators of these psychological factors. We conclude with recommendations for promoting behaviour change in this deforestation hotspot and highlight how others can adopt similar approaches to illuminate more proximate drivers of environmental behaviours in other contexts.Supplementary informationThe online version of this article (10.1007/s13280-020-01491-w) contains supplementary material, which is available to authorized users.     

Dengue, related to rubble and building construction in Brazil

The fast-growing formation of solid waste, resulting from demographic density, presents itself as one of the most pressing problems to be addressed by governments of large cities all over the world. In Rio de Janeiro, 60% of solid waste stems from the construction industry. Although envisaged by under current municipal legislation, no application of policy regarding systematic recycling of this kind of waste exists in fact. Both sanitation experts and epidemiologists highlight that the deficient sanitary system contributes to the growth of endemic breeding sites, which may reach epidemic proportions. In Brazil, over the recent years, there has been an increase of Dengue Fever cases followed by deaths. In the first half of 2008, the State of Rio de Janeiro was plagued by an intense Dengue epidemic. The city of Rio de Janeiro alone accounted for 48.7% of the cases, in absolute values. By drawing upon an analytical method based on the interrelation between health and sanitation, the outcomes herein indicate that the city of Rio de Janeiro bears a direct relation between Dengue incidence rates and rubble formation from construction – measured by the total area built. Thus, there is a strong urge to implement recycling systems out of construction rubble as a sanitation measure in order to promote Dengue incidence reduction.