Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals.

BACKGROUND:Precision medicine is set to deliver a rich new data set of genomic information. However, the number of certified specialists in the United States is small, with only 4244 genetic counselors and 1302 clinical geneticists. We conducted a national survey of 264 medical professionals to evaluate how they interpret genetic test results, determine their confidence and self-efficacy of interpreting genetic test results with patients, and capture their opinions and experiences with direct-to-consumer genetic tests (DTC-GT). METHODS:Participants were grouped into two categories, genetic specialists (genetic counselors and clinical geneticists) and medical providers (primary care, internists, physicians assistants, advanced nurse practitioners, etc.). The survey (full instrument can be found in the Additional file 1) presented three genetic test report scenarios for interpretation: a genetic risk for diabetes, genomic sequencing for symptoms report implicating a potential HMN7B: distal hereditary motor neuropathy VIIB diagnosis, and a statin-induced myopathy risk. Participants were also asked about their opinions on DTC-GT results and rank their own perceived level of preparedness to review genetic test results with patients. RESULTS:The rates of correctly interpreting results were relatively high (74.4% for the providers compared to the specialist's 83.4%) and age, prior genetic test consultation experience, and level of trust assigned to the reports were associated with higher correct interpretation rates. The self-selected efficacy and the level of preparedness to consult on a patient's genetic results were higher for the specialists than the provider group. CONCLUSION:Specialists remain the best group to assist patients with DTC-GT, however, primary care providers may still provide accurate interpretation of test results when specialists are unavailable

Topological Evolution of Dynamical Networks: Global Criticality from Local Dynamics

We evolve network topology of an asymmetrically connected threshold network by a simple local rewiring rule: quiet nodes grow links, active nodes lose links. This leads to convergence of the average connectivity of the network towards the critical value $K_c =2$ in the limit of large system size $N$. How this principle could generate self-organization in natural complex systems is discussed for two examples: neural networks and regulatory networks in the genome.Comment: 4 pages RevTeX, 4 figures PostScript, revised versio

Coexpression Network Analysis of miRNA-142 Overexpression in Neuronal Cells

MicroRNAs are small noncoding RNA molecules, which are differentially expressed in diverse biological processes and are also involved in the regulation of multiple genes. A number of sites in the 3′ untranslated regions (UTRs) of different mRNAs allow complimentary binding for a microRNA, leading to their posttranscriptional regulation. The miRNA-142 is one of the microRNAs overexpressed in neurons that is found to regulate SIRT1 and MAOA genes. Differential analysis of gene expression data, which is focused on identifying up- or downregulated genes, ignores many relationships between genes affected by miRNA-142 overexpression in a cell. Thus, we applied a correlation network model to identify the coexpressed genes and to study the impact of miRNA-142 overexpression on this network. Combining multiple sources of knowledge is useful to infer meaningful relationships in systems biology. We applied coexpression model on the data obtained from wild type and miR-142 overexpression neuronal cells and integrated miRNA seed sequence mapping information to identify genes greatly affected by this overexpression. Larger differences in the enriched networks revealed that the nervous system development related genes such as TEAD2, PLEKHA6, and POGLUT1 were greatly impacted due to miRNA-142 overexpression

Few-Body Dynamics Underlying Postcollision Effects in the Ionization of H₂ by 75-KeV Proton Impact

We have measured fully differential cross sections (FDCS) for ionization in 75-keVp+H2 collisions for ejected electron speeds close to the projectile speed. The data were analyzed in dependence on both the electron emission angle and the projectile scattering angle. Pronounced postcollisional effects between the projectile and the ejected electrons were observed. Significant differences between experiment and theory and between two conceptually very similar theoretical models were found. This shows that in the region of electron-projectile velocity-matching the FDCS is very sensitive to the details of the underlying few-body dynamics

Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals

Background: Precision medicine is set to deliver a rich new data set of genomic information. However, the number of certified specialists in the United States is small, with only 4244 genetic counselors and 1302 clinical geneticists. We conducted a national survey of 264 medical professionals to evaluate how they interpret genetic test results, determine their confidence and self-efficacy of interpreting genetic test results with patients, and capture their opinions and experiences with direct-to-consumer genetic tests (DTC-GT). Methods: Participants were grouped into two categories, genetic specialists (genetic counselors and clinical geneticists) and medical providers (primary care, internists, physicians assistants, advanced nurse practitioners, etc.). The survey (full instrument can be found in the Additional file 1) presented three genetic test report scenarios for interpretation: a genetic risk for diabetes, genomic sequencing for symptoms report implicating a potential HMN7B: distal hereditary motor neuropathy VIIB diagnosis, and a statin-induced myopathy risk. Participants were also asked about their opinions on DTC-GT results and rank their own perceived level of preparedness to review genetic test results with patients. Results: The rates of correctly interpreting results were relatively high (74.4% for the providers compared to the specialist’s 83.4%) and age, prior genetic test consultation experience, and level of trust assigned to the reports were associated with higher correct interpretation rates. The self-selected efficacy and the level of preparedness to consult on a patient’s genetic results were higher for the specialists than the provider group. Conclusion: Specialists remain the best group to assist patients with DTC-GT, however, primary care providers may still provide accurate interpretation of test results when specialists are unavailable

Projectile Coherence Effects in Simple Atomic Systems

Recent studies of projectile coherence effects in ion-atom collisions are presented. For intermediate-energy proton collisions an extensive literature provides strong support for the importance of such effects. In this regime coherence effects are now used as a tool to study the few-body dynamics very sensitively. In contrast, for high-energy ion impact the literature is much sparser and here an important role of coherence effects cannot be regarded as being established. In this context, a recent claim that in COLTRIMS experiments the coherence properties are determined only by the target beam is rebutted

Two-Center And Path Interference In Dissociative Capture In P+ H2 Collisions

We have measured and calculated fully differential cross sections (FDCS) for dissociative capture in 75-keV p+H2 collisions. FDCS were analyzed in the kinetic energy release (KER) ranges 0 to 2.1 eV and 4 to 7 eV for two different molecular orientations. In the latter range, dissociation is dominated by electronic excitation to the 2pπu state. Here, we observed two-center interference for an orientation in the plane perpendicular to the initial beam axis and parallel to the transverse momentum transfer. The interference pattern is afflicted with a constant phase shift of π. In the range KER=0 to 2.1 eV, dissociation is dominated by vibrational excitation. Here, we observed structures in the KER dependence, which we interpret as interference between two different paths of the molecular fragments during the dissociation

An ultrasensitive electrogenerated chemiluminescence-based immunoassay for specific detection of Zika virus

Zika virus (ZIKV) is a globally emerging mosquito-transmitted flavivirus that can cause severe fetal abnormalities, including microcephaly. As such, highly sensitive, specific, and cost-effective diagnostic methods are urgently needed. Here, we report a novel electrogenerated chemiluminescence (ECL)-based immunoassay for ultrasensitive and specific detection of ZIKV in human biological fluids. We loaded polystyrene beads (PSB) with a large number of ECL labels and conjugated them with anti-ZIKV monoclonal antibodies to generate anti-ZIKV-PSBs. These anti-ZIKV-PSBs efficiently captured ZIKV in solution forming ZIKV-anti-ZIKV-PSB complexes, which were subjected to measurement of ECL intensity after further magnetic beads separation. Our results show that the anti-ZIKV-PSBs can capture as little as 1 PFU of ZIKV in 100 μl of saline, human plasma, or human urine. This platform has the potential for development as a cost-effective, rapid and ultrasensitive assay for the detection of ZIKV and possibly other viruses in clinical diagnosis, epidemiologic and vector surveillance, and laboratory research

Fully Differential Investigation of Two-Center Interference in Dissociative Capture in p + H₂ Collisions

We have measured and calculated fully differential cross sections for vibrational dissociation following capture in 75-keV p + H2 collisions. For a molecular orientation perpendicular to the projectile beam axis and parallel to the transverse momentum transfer we observe a pronounced interference structure. The positions of the interference extrema suggest that the interference term is afflicted with a phase shift which depends on the projectile scattering angle. However, no significant dependence on the kinetic-energy release was observed. Considerable discrepancies between our calculations and experimental data were found