Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations

Reactions to the first clinical recommendations for the return of incidental findings (IFs) from genomic sequencing published by the American College of Medical Genetics and Genomics (ACMG) were polarized and resolute. Exploring the three main points of controversy: mandatory testing, testing children for adult conditions, and selection of conditions to be reported on, illuminates concerns for and conservation of bioethical principles—specifically, autonomy and non-directiveness. With the historical context of genetic testing in mind, this article studies the potential application of the ACMG recommendations to embryonic testing in the form of preimplantation genetic diagnosis. Theoretical extension of the current recommendations assists in the identification of bioethical dilemmas and possible societal impacts. The recommendations make a statement on the importance of diagnosis and intervention for specific genetic conditions, setting a precedent for disease classification and patient autonomy. In the extreme, the clinical application of such recommendations prenatally may result in discarded embryos, and less societal tolerance of specific conditions. Skilled professionals, such as genetic counselors, researchers, and lawmakers must work together to maintain patient autonomy, providing care in the best interest of each patient.     

Development of a fast, simple profiling method for sample screening using high resolution melting (HRM) of STRs

A screening assay has been developed to provide preliminary individualization of crime scene samples thus eliminating expensive, time-consuming short tandem repeat (STR) profiling of nonprobative samples. High resolution melting performed in a real-time PCR instrument is used to detect the slight melting differences between the length and sequence variations of 22 forensic STRs. Three STRs (vWA, D18S51, THO1) were chosen to develop an assay which was optimized for Mg++ concentration, annealing/extension time/temperature, assay volume, and bovine serum albumin addition. The assay was tested for reproducibility, uniformity for genotype, melting profile consistency, effects of inhibitors, and mixture effects. The assay could be used to determine DNA concentration when a standard curve is run simultaneously. Calculations of costs show that the assay can save significant time and money for a crime with many samples or suspects.     

Extending the General Theory of Crime to “The East:” Low Self-Control in Japanese Late Adolescents

This study examined the measurement of low self-control as well as the low self-control-deviance relationship in a sample of N = 335 Japanese late adolescents. Participants completed the Grasmick et al. low self-control instrument and the Normative Deviance Scale (NDS). Findings indicated that the low self-control measure was a valid and reliable indicator of low self-control among male and female Japanese late adolescents and that it was multi-dimensional. Furthermore, the study provided evidence that low self-control was consistently related to diverse measures of deviance, ranging from trivial to more serious norm-violating behaviors (e.g., assault). Finally, in a series of comparisons of partial unstandardized regression coefficients between Japanese and U.S. late adolescents, the study found that the low self-control-deviance relationship was invariant across all measures of deviance with the exception of alcohol use. Findings are discussed in terms of their importance for cross-cultural/cross-national predictions made by the General Theory of Crime.     

Arenas without Rules and the Policy Change Process: Outsider Groups and British Roads Policy

A key task of governments is to construct and manage systems of consultation whereby the vast array of interest groups seeking to influence public policy can be accommodated. Conventional wisdom holds that key insider groups secure for themselves special privileges, not least of which is an ability to prevent radical policy change. A concomitant view is that public policy emerges from relatively stable networks of actors who have some mutual resource dependencies. One reason why this paradigm is showing signs of intellectual fatigue is that it seems weak in explaining policy change. Yet, policy change does take place. Indeed, it is one of the characteristics of the 1980s and 1990s. This article examines an example of the traditional modalities of consultation failing to accommodate new interests, knowledge and ideas. This breakdown appears to have occurred by the use of alternative policy 'arenas without rules' by outsider groups, leading to a radical new 'framing' of transport policy. Moreover, government has failed to constrain the new policy issues in predictable and stable systems of consultation.