Pharmacogenomics in the UK National Health Service: opportunities and challenges

There is increasing interest in pharmacogenomics. However, it is also widely acknowledged that implementation of pharmacogenomics into clinical practice has been slow. Implementation is being undertaken in many centres in the US, but this is not nationwide and often focused on highly specialised academic centres, driven by champions. To date, there has been no implementation on a whole country basis. The UK National Health Service (NHS) is a single integrated healthcare system, which provides free care to all patients at the point of need. Recently, there has been a drive to implement genomic medicine into the NHS, largely spurred on by the success of the 100,000 genomes project. This represents an unprecedented opportunity to implement pharmacogenomics for over 60 million people. In order to discuss the potential for implementing pharmacogenomics into the NHS, the UK Pharmacogenetics and Stratified Medicine Network, NHS England and Genomics England invited experts from academia, the healthcare sector, industry and patient representatives to come together to discuss the opportunities and challenges1. This report highlights the discussions of the workshop with the aim of providing an overview of the issues that need to be considered to enable pharmacogenomic medicine to become mainstream within the NHS

Prevalence of prenatal zinc deficiency and its association with socio-demographic, dietary and health care related factors in Rural Sidama, Southern Ethiopia: A cross-sectional study

<p>Abstract</p> <p>Background</p> <p>Several studies witnessed that prenatal zinc deficiency (ZD) predisposes to diverse pregnancy complications. However, scientific evidences on the determinants of prenatal ZD are scanty and inconclusive. The purpose of the present study was to assess the prevalence and determinants of prenatal ZD in Sidama zone, Southern Ethiopia.</p> <p>Methods</p> <p>A community based, cross-sectional study was conducted in Sidama zone in January and February 2011. Randomly selected 700 pregnant women were included in the study. Data on potential determinants of ZD were gathered using a structured questionnaire. Serum zinc concentration was measured using Atomic Absorption Spectrometry. Statistical analysis was done using logistic regression and linear regression.</p> <p>Results</p> <p>The mean serum zinc concentration was 52.4 (+/-9.9) μg/dl (95% CI: 51.6-53.1 μg/dl). About 53.0% (95% CI: 49.3-56.7%) of the subjects were zinc deficient. The majority of the explained variability of serum zinc was due to dietary factors like household food insecurity level, dietary diversity and consumption of animal source foods. The risk of ZD was 1.65 (95% CI: 1.02-2.67) times higher among women from maize staple diet category compared to <it>Enset </it>staple diet category. Compared to pregnant women aged 15-24 years, those aged 25-34 and 35-49 years had 1.57 (95% CI: 1.04-2.34) and 2.18 (95% CI: 1.25-3.63) times higher risk of ZD, respectively. Women devoid of self income had 1.74 (95% CI: 1.11-2.74) time increased risk than their counterparts. Maternal education was positively associated to zinc status. Grand multiparas were 1.74 (95% CI: 1.09-3.23) times more likely to be zinc deficient than nulliparas. Frequency of coffee intake was negatively association to serum zinc level. Positive association was noted between serum zinc and hemoglobin concentrations. Altitude, history of iron supplementation, maternal workload, physical access to health service, antenatal care and nutrition education were not associated to zinc status.</p> <p>Conclusion</p> <p>ZD is of public health concern in the area. The problem must be combated through a combination of short, medium and long-term strategies. This includes the use of household based phytate reduction food processing techniques, agricultural based approaches and livelihood promotion strategies.</p

Performance of CMS muon reconstruction in pp collision events at sqrt(s) = 7 TeV

The performance of muon reconstruction, identification, and triggering in CMS has been studied using 40 inverse picobarns of data collected in pp collisions at sqrt(s) = 7 TeV at the LHC in 2010. A few benchmark sets of selection criteria covering a wide range of physics analysis needs have been examined. For all considered selections, the efficiency to reconstruct and identify a muon with a transverse momentum pT larger than a few GeV is above 95% over the whole region of pseudorapidity covered by the CMS muon system, abs(eta) < 2.4, while the probability to misidentify a hadron as a muon is well below 1%. The efficiency to trigger on single muons with pT above a few GeV is higher than 90% over the full eta range, and typically substantially better. The overall momentum scale is measured to a precision of 0.2% with muons from Z decays. The transverse momentum resolution varies from 1% to 6% depending on pseudorapidity for muons with pT below 100 GeV and, using cosmic rays, it is shown to be better than 10% in the central region up to pT = 1 TeV. Observed distributions of all quantities are well reproduced by the Monte Carlo simulation.Comment: Replaced with published version. Added journal reference and DO

Performance of CMS muon reconstruction in pp collision events at sqrt(s) = 7 TeV

The performance of muon reconstruction, identification, and triggering in CMS has been studied using 40 inverse picobarns of data collected in pp collisions at sqrt(s) = 7 TeV at the LHC in 2010. A few benchmark sets of selection criteria covering a wide range of physics analysis needs have been examined. For all considered selections, the efficiency to reconstruct and identify a muon with a transverse momentum pT larger than a few GeV is above 95% over the whole region of pseudorapidity covered by the CMS muon system, abs(eta) < 2.4, while the probability to misidentify a hadron as a muon is well below 1%. The efficiency to trigger on single muons with pT above a few GeV is higher than 90% over the full eta range, and typically substantially better. The overall momentum scale is measured to a precision of 0.2% with muons from Z decays. The transverse momentum resolution varies from 1% to 6% depending on pseudorapidity for muons with pT below 100 GeV and, using cosmic rays, it is shown to be better than 10% in the central region up to pT = 1 TeV. Observed distributions of all quantities are well reproduced by the Monte Carlo simulation.Comment: Replaced with published version. Added journal reference and DO

Performance of CMS muon reconstruction in pp collision events at √s = 7TeV

arXiv:1206.4071v2.-- Chatrchyan, S. et al.The performance of muon reconstruction, identification, and triggering in CMS has been studied using 40 pb -1 of data collected in pp collisions at s = 7 TeV at the LHC in 2010. A few benchmark sets of selection criteria covering a wide range of physics analysis needs have been examined. For all considered selections, the efficiency to reconstruct and identify a muon with a transverse momentum pT larger than a few GeV/c is above 95% over the whole region of pseudorapidity covered by the CMS muon system, < 2.4, while the probability to misidentify a hadron as a muon is well below 1%. The efficiency to trigger on single muons with pT above a few GeVc is higher than 90% over the full η range, and typically substantially better. The overall momentum scale is measured to a precision of 0.2% with muons from Z decays. The transverse momentum resolution varies from 1% to 6% depending on pseudorapidity for muons with pT below 100GeV/c and, using cosmic rays, it is shown to be better than 10% in the central region up to pT = 1 TeV/c. Observed distributions of all quantities are well reproduced by the Monte Carlo simulation.This work was supported by the Austrian Federal Ministry of Science and Research; the Belgium Fonds de la Recherche Scientifique, and Fonds voor Wetenschappelijk Onderzoek; the Brazilian Funding Agencies (CNPq, CAPES, FAPERJ, and FAPESP); the Bulgarian Ministry of Education and Science; CERN; the Chinese Academy of Sciences, Ministry of Science and Technology, and National Natural Science Foundation of China; the Colombian Funding Agency (COLCIENCIAS); the Croatian Ministry of Science, Education and Sport; the Research Promotion Foundation Cyprus; the Estonian Academy of Sciences and NICPB; the Academy of Finland, Finnish Ministry of Education and Culture, and Helsinki Institute of Physics; the Institut National de Physique Nucléaire et de Physique des Particules / CNRS, and Commissariat á l'Energie Atomique et aux Energies Alternatives/CEA, France; the Bundesministerium für Bildung und Forschung, Deutsche Forschungsgemeinschaft, and Helmholtz-Gemeinschaft Deutscher Forschungszentren, Germany; the General Secretariat for Research and Technology, Greece; the National Scientific Research Foundation, and National Office for Research and Technology, Hungary; the Department of Atomic Energy and the Department of Science and Technology, India; the Institute for Studies in Theoretical Physics and Mathematics, Iran; the Science Foundation, Ireland; the Istituto Nazionale di Fisica Nucleare, Italy; the Korean Ministry of Education, Science and Technology and the World Class University program of NRF, Korea; the Lithuanian Academy of Sciences; the Mexican Funding Agencies (CINVESTAV, CONACYT, SEP, and UASLP-FAI); the Ministry of Science and Innovation, New Zealand; the Pakistan Atomic Energy Commission; the State Commission for Sci- entific Research, Poland; the Fundaçao para a Ciência e a Tecnologia, Portugal; JINR (Armenia, Belarus, Georgia, Ukraine, Uzbekistan); the Ministry of Science and Technologies of the Russian Federation, the Russian Ministry of Atomic Energy and the Russian Foundation for Basic Research; the Ministry of Science and Technological Development of Serbia; the Ministerio de Ciencia e Innovación, and Programa Consolider-Ingenio 2010, Spain; the Swiss Funding Agencies (ETH Board, ETH Zurich, PSI, SNF, UniZH, Canton Zurich, and SER); the National Science Council, Taipei; the Scientific and Technical Research Council of Turkey, and Turkish Atomic Energy Authority; the Science and Technology Facilities Council, U.K.; the US Department of Energy, and the US National Science Foundation. Individuals have received support from the Marie-Curie programme and the European Research Council (European Union); the Leventis Foundation; the A. P. Sloan Foundation; the Alexander von Humboldt Foundation; the Belgian Federal Science Policy Office; the Fonds pour la Formation à la Recherche dans l'Industrie et dans l'Agriculture (FRIA-Belgium); the Agentschap voor Innovatie door Wetenschap en Technologie (IWT-Belgium); and the Council of Science and Industrial Research, India.Peer Reviewe

Search for quark compositeness in dijet angular distributions from pp collisions at √s̅ = 7 TeV

Peer reviewe

Measurement of associated production of vector bosons and top quark-antiquark pairs in pp collisions at √s=7 TeV

PubMed ID: 23679709The first measurement of vector-boson production associated with a top quark-antiquark pair in proton-proton collisions at s √ =7  TeV is presented. The results are based on a data set corresponding to an integrated luminosity of 5.0  fb^−1 , recorded by the CMS detector at the LHC in 2011. The measurement is performed in two independent channels through a trilepton analysis of tt ¯ Z events and a same-sign dilepton analysis of tt ¯ V (V=W or Z ) events. In the trilepton channel a direct measurement of the tt ¯ Z cross section σ tt ¯ Z =0.28 [+0.14 −0.11]  (stat) [+0.06 −0.03]  (syst)  pb is obtained. In the dilepton channel a measurement of the tt ¯ V cross section yields σtt¯V=0.43 [+0.17 −0.15]  (stat) [+0.09 −0.07]  (syst)  pb . These measurements have a significance, respectively, of 3.3 and 3.0 standard deviations from the background hypotheses and are compatible, within uncertainties, with the corresponding next-to-leading order predictions of 0.137[+0.012 −0.016] and 0.306 [+0.031 −0.053]   pb

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

Marja-Liisa Lokki työryhmien Generation Scotland Consortium, LifeLines Cohort Study ja GIANT Consortium jäsenPeer reviewe