Risk prediction tools for cancer in primary care.

Numerous risk tools are now available, which predict either current or future risk of a cancer diagnosis. In theory, these tools have the potential to improve patient outcomes through enhancing the consistency and quality of clinical decision-making, facilitating equitable and cost-effective distribution of finite resources such as screening tests or preventive interventions, and encouraging behaviour change. These potential uses have been recognised by the National Cancer Institute as an 'area of extraordinary opportunity' and an increasing number of risk prediction models continue to be developed. The data on predictive utility (discrimination and calibration) of these models suggest that some have potential for clinical application; however, the focus on implementation and impact is much more recent and there remains considerable uncertainty about their clinical utility and how to implement them in order to maximise benefits and minimise harms such as over-medicalisation, anxiety and false reassurance. If the potential benefits of risk prediction models are to be realised in clinical practice, further validation of the underlying risk models and research to assess the acceptability, clinical impact and economic implications of incorporating them in practice are needed.This is the final version of the article. It was first available from NPG via http://dx.doi.org/10.1038/bjc.2015.40

Growing pains: how risk perception and risk communication research can help to manage the challenges of global population growth

In 2011 the global human population reached seven billion and medium variant projections indicate that it will exceed nine billion before 2045. Theoretical and empirical perspectives suggest that this growth could lead to an increase in the likelihood of adverse events (e.g., food shortages, climate change, etc.) and/or the severity of adverse events (e.g., famines, natural disasters, etc.). Several scholars have posited that the size to which the global population grows and the extent to which this growth increases the likelihood of adverse outcomes will largely be shaped by individuals� decisions (in households, organizations, Governments, etc.). In light of the strong relationship between perceived risk and decision behaviors, it is surprising that there remains a dearth of empirical research that specifically examines the perceived risks of population growth and how these perceptions might influence related decisions. In an attempt to motivate this important strand of research, this paper examines the major risks that may be exacerbated by global population growth and draws upon empirical work concerning the perception and communication of risk to identify potential directions for future research. The paper also considers how individuals might perceive both the risks and benefits of population growth and be helped to better understand and address the related issues. The answers to these questions could help humanity better manage the emerging consequences of its continuing success in increasing infant survival and adult longevit

Human genetics and clinical aspects of neurodevelopmental disorders

This chapter traverses contemporary understandings of the genetic architecture of human disease, and explores the clinical implications of the current state of knowledge. Many different classes of genetic mutations have been implicated as being involved in predisposition to certain diseases, and researchers are continually uncovering other means by which genetics plays an important role in human disease, such as with somatic genetic mosaicism. Putative “de novo” mutations can represent cases of parental mosaicism (including in the germline), which could be revealed by careful genotyping of parental tissues other than peripheral blood lymphocytes. There is an increasingly rich literature regarding rare mutations with seemingly large phenotypic effects. Privacy concerns have added to the difficulties of implementing genomics-guided medicine. With the advent of exome and whole genome sequencing (WGS), one needs to focus again on families over several generations, so as to attempt to minimize genetic differences, locus heterogeneity and environmental influences

Experts in science and society

In today's complex world, we have come to rely increasingly on those who have expertise in specific areas and can bring their knowledge to bear on crucial social, political and scientific questions. Taking the viewpoint that experts are consulted when there is something important at stake for an individual, a group, or society at large, Experts in Science and Society explores expertise as a relational concept. How do experts balance their commitment to science with that to society? How does a society actually determine that a person has expertise? What personal traits are valued in an expert? From where does the expert derive authority? What makes new forms of expertise emerge? These and related questions are addressed from a wide range of areas in order to be inclusive, as well as to demonstrate similarities across areas. Likewise, in order to be culturally comparative, this volume includes examples and discussions of experts in different countries and even in different time periods. The topics include the roles of political experts, scientific experts, medical experts, legal experts, and more