Known unknowns: building an ethics of uncertainty into genomic medicine

Background Genomic testing has reached the point where, technically at least, it can be cheaper to undertake panel-, exome- or whole genome testing than it is to sequence a single gene. An attribute of these approaches is that information gleaned will often have uncertain significance. In addition to the challenges this presents for pre-test counseling and informed consent, a further consideration emerges over how - ethically - we should conceive of and respond to this uncertainty. To date, the ethical aspects of uncertainty in genomics have remained under-explored. Discussion In this paper, we draft a conceptual and ethical response to the question of how to conceive of and respond to uncertainty in genomic medicine. After introducing the problem, we articulate a concept of ‘genomic uncertainty’. Drawing on this, together with exemplar clinical cases and related empirical literature, we then critique the presumption that uncertainty is always problematic and something to be avoided, or eradicated. We conclude by outlining an ‘ethics of genomic uncertainty’; describing how we might handle uncertainty in genomic medicine. This involves fostering resilience, welfare, autonomy and solidarity. Conclusions Uncertainty will be an inherent aspect of clinical practice in genomics for some time to come. Genomic testing should not be offered with the explicit aim to reduce uncertainty. Rather, uncertainty should be appraised, adapted to and communicated about as part of the process of offering and providing genomic information. Keywords Ethics Uncertainty Genomics Clinical genomics Massively parallel sequencing Genome sequencing Genomic testing Genetic counseling Rare diseases Variants of uncertain significanc

On the Progenitors of Core-Collapse Supernovae

Theory holds that a star born with an initial mass between about 8 and 140 times the mass of the Sun will end its life through the catastrophic gravitational collapse of its iron core to a neutron star or black hole. This core collapse process is thought to usually be accompanied by the ejection of the star's envelope as a supernova. This established theory is now being tested observationally, with over three dozen core-collapse supernovae having had the properties of their progenitor stars directly measured through the examination of high-resolution images taken prior to the explosion. Here I review what has been learned from these studies and briefly examine the potential impact on stellar evolution theory, the existence of "failed supernovae", and our understanding of the core-collapse explosion mechanism.Comment: 7 Pages, invited review accepted for publication by Astrophysics and Space Science (special HEDLA 2010 issue

Backward diode composed of a metallic and semiconducting nanotube

The conditions necessary for a nanotube junction connecting a metallic and semiconducting nanotube to rectify the current are theoretically investigated. A tight binding model is used for the analysis, which includes the Hartree-Fock approximation and the Green's function method. It is found that the junction has a behavior similar to the backward diode if the gate electrode is located nearby and the Fermi level of the semiconducting tube is near the gap. Such a junction would be advantageous since the required length for the rectification could be reduced.Comment: 4 pages, RevTeX, uses epsf.st

Clarifying Some Remaining Questions in the Anomaly Puzzle

We discuss several points that may help to clarify some questions that remain about the anomaly puzzle in supersymmetric theories. In particular, we consider a general N=1 supersymmetric Yang-Mills theory. The anomaly puzzle concerns the question of whether there is a consistent way to put the R-current and the stress tensor in a single supercurrent, even though in the classical theory they are in the same supermultiplet. As is well known, the classically conserved supercurrent bifurcates into two supercurrents having different anomalies in the quantum regime. The most interesting result we obtain is an explicit expression for the lowest component of one of the two supercurrents in 4-dimensional spacetime, namely the supercurrent that has the energy-momentum tensor as one of its components. This expression for the lowest component is an energy-dependent linear combination of two chiral currents, which itself does not correspond to a classically conserved chiral current. The lowest component of the other supercurrent, namely, the R-current, satisfies the Adler-Bardeen theorem. The lowest component of the first supercurrent has an anomaly that we show is consistent with the anomaly of the trace of the energy-momentum tensor. Therefore, we conclude that there is no consistent way to put the R-current and the stress tensor in a single supercurrent in the quantized theory. We also discuss and try to clarify some technical points in the derivations of the two-supercurrents in the literature. These latter points concern the significance of infrared contributions to the NSVZ beta-function and the role of the equations of motion in deriving the two supercurrents.Comment: 22 pages, no figure. v2: minor changes. v3: sections re-organized. new subsections (IVA, IVB) added. references adde

Novel Transversity Properties in Semi-Inclusive Deep Inelastic Scattering

The $T$-odd distribution functions contributing to transversity properties of the nucleon and their role in fueling nontrivial contributions to azimuthal asymmetries in semi-inclusive deep inelastic scattering are investigated. We use a dynamical model to evaluate these quantities in terms of HERMES kinematics.Comment: 5 pages revtex; 5 eps figures. References added. To appear as a Rapid Communication in Physical Review

Epidemiological Tools in Focus: A Comprehensive Assessment of Their Role in Addressing Infectious Disease Challenges in Zambia

In the relentless pursuit of mitigating infectious diseases, this investigative study critically examines the nuanced application and effectiveness of epidemiological tools within the context of Zambia. The study meticulously navigates the landscape of infectious diseases in Zambia, considering its unique ecological and socio-economic features. Employing a rigorous methodology that integrates primary data from epidemiological reports, field observations, and laboratory analyses with insights from diverse scientific literature, the study investigates the types and applications of epidemiological tools such as spatial analysis, case-control studies, molecular epidemiology, and serological assays. Unfolding the challenges posed by resource constraints, data reliability issues, and the dynamic nature of infectious diseases in Zambia, the study offers a comprehensive assessment that extends to the implications of these tools for informed public health decision-making. This scholarly inquiry concludes by affirming the significance of ongoing refinement and adaptation of epidemiological tools, emphasizing their pivotal role in addressing infectious disease challenges within Zambia and advocating for their continued enhancement on the global public health stage

A mechanism for the T-odd pion fragmentation function

We consider a simple rescattering mechanism to calculate a leading twist $T$-odd pion fragmentation function, a favored candidate for filtering the transversity properties of the nucleon. We evaluate the single spin azimuthal asymmetry for a transversely polarized target in semi-inclusive deep inelastic scattering (for HERMES kinematics). Additionally, we calculate the double $T$-odd $\cos2\phi$ asymmetry in this framework.Comment: 6 pages revtex, 7 eps figures, references added and updated in this published versio

Field Measurements of Terrestrial and Martian Dust Devils

Surface-based measurements of terrestrial and martian dust devils/convective vortices provided from mobile and stationary platforms are discussed. Imaging of terrestrial dust devils has quantified their rotational and vertical wind speeds, translation speeds, dimensions, dust load, and frequency of occurrence. Imaging of martian dust devils has provided translation speeds and constraints on dimensions, but only limited constraints on vertical motion within a vortex. The longer mission durations on Mars afforded by long operating robotic landers and rovers have provided statistical quantification of vortex occurrence (time-of-sol, and recently seasonal) that has until recently not been a primary outcome of more temporally limited terrestrial dust devil measurement campaigns. Terrestrial measurement campaigns have included a more extensive range of measured vortex parameters (pressure, wind, morphology, etc.) than have martian opportunities, with electric field and direct measure of dust abundance not yet obtained on Mars. No martian robotic mission has yet provided contemporaneous high frequency wind and pressure measurements. Comparison of measured terrestrial and martian dust devil characteristics suggests that martian dust devils are larger and possess faster maximum rotational wind speeds, that the absolute magnitude of the pressure deficit within a terrestrial dust devil is an order of magnitude greater than a martian dust devil, and that the time-of-day variation in vortex frequency is similar. Recent terrestrial investigations have demonstrated the presence of diagnostic dust devil signals within seismic and infrasound measurements; an upcoming Mars robotic mission will obtain similar measurement types