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https://www.readbyqxmd.com/read/28426524/beyond-cascade-screening-detection-of-familial-hypercholesterolaemia-at-childhood-immunization-and-other-strategies
#1
Andrew C Martin, Damon A Bell, Tom Brett, Gerald F Watts
PURPOSE OF REVIEW: Familial hypercholesterolaemia is a common genetic disorder that accelerates premature coronary heart disease. Although effective treatments are available, the majority of individuals remain undiagnosed. We review new evidence for improving the detection of familial hypercholesterolaemia. RECENT FINDINGS: Recent studies have demonstrated that universal screening of children for familial hypercholesterolaemia may be highly effective at the time of immunization if combined with reverse cascade testing of adult family members, who have a more immediate risk of a coronary event...
April 19, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28423763/learning-healthcare-system-for-the-prescription-of-genetic-testing-in-the-gynecological-cancer-risk
#2
Cristina Suárez-Mejías, Alicia Martínez-García, María Ángeles Martínez-Maestre, José Manuel Silvan-Alfaro, Jesús Moreno Conde, Carlos Luis Parra-Calderón
Clinical evidence demonstrates that BRCA 1 and BRCA2 mutations can develop a gynecological cancer but genetic testing has a high cost to the healthcare system. Besides, several studies in the literature indicate that performing these genetic tests to the population is not cost-efficient. Currently, our physicians do not have a system to provide them the support for prescribing genetic tests. A Decision Support System for prescribing these genetic tests in BRCA1 and BRCA2 and preventing gynecological cancer risks has been designed, developed and deployed in the Virgen del Rocío University Hospital (VRUH)...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28423155/the-role-of-genetic-testing-in-patients-with-breast-cancer-a-review
#3
Olivia M Valencia, Selyne E Samuel, Rebecca K Viscusi, Taylor S Riall, Leigh A Neumayer, Hassan Aziz
Importance: In the United States from 2009 to 2013, the incidence of breast cancer was the highest of any cancer and the death rate was second to that of lung cancer. Approximately 5% to 10% of breast cancers are inheritable. Observations: BRCA1 and BRCA2 germline mutations account for up to 30% of inheritable breast cancers and are the most commonly assessed mutations in patients presenting with early-onset breast cancer, triple-negative breast cancer, bilateral breast cancer, and a family history of breast cancer...
April 19, 2017: JAMA Surgery
https://www.readbyqxmd.com/read/28417173/semiautomated-taqman-pcr-screening-of-gmo-labelled-samples-for-unauthorised-gmos
#4
Ingrid M J Scholtens, Bonnie Molenaar, Richard A van Hoof, Stephanie Zaaijer, Theo W Prins, Esther J Kok
In most countries, systems are in place to analyse food products for the potential presence of genetically modified organisms (GMOs), to enforce labelling requirements and to screen for the potential presence of unauthorised GMOs. With the growing number of GMOs on the world market, a larger diversity of methods is required for informative analyses. In this paper, the specificity of an extended screening set consisting of 32 screening methods to identify different crop species (endogenous genes) and GMO elements was verified against 59 different GMO reference materials...
April 17, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28412656/design-optimization-of-embedded-ultrasonic-transducers-for-concrete-structures-assessment
#5
Cédric Dumoulin, Arnaud Deraemaeker
In the last decades, the field of structural health monitoring and damage detection has been intensively explored. Active vibration techniques allow to excite structures at high frequency vibrations which are sensitive to small damage. Piezoelectric PZT transducers are perfect candidates for such testing due to their small size, low cost and large bandwidth. Current ultrasonic systems are based on external piezoelectric transducers which need to be placed on two faces of the concrete specimen. The limited accessibility of in-service structures makes such an arrangement often impractical...
April 9, 2017: Ultrasonics
https://www.readbyqxmd.com/read/28412379/challenges-of-measles-and-rubella-laboratory-diagnostic-in-the-era-of-elimination
#6
REVIEW
Judith M Hübschen, Sonja M Bork, Kevin E Brown, Annette Mankertz, Sabine Santibanez, Myriam Ben Mamou, Mick N Mulders, Claude P Muller
The Member States of the WHO European Region adopted the goal of measles and rubella elimination more than 10 years ago, but so far only 21 of 53 countries have reached this target. Laboratory investigation of suspected cases is essential to support disease elimination efforts. Therefore WHO maintains a network of accredited laboratories providing high quality testing AIMS.: The present article reviews current measles and rubella laboratory diagnostic methods and describes specific challenges in elimination settings SOURCES...
April 13, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28411852/the-molecular-revolution-in-cutaneous-biology-era-of-molecular-diagnostics-for-inherited-skin%C3%A2-diseases
#7
REVIEW
John A McGrath
The discovery of pathogenic mutations in inherited skin diseases represents one of the major landmarks of late 20th century molecular genetics. Mutation data can provide accurate diagnoses, improve genetic counseling, help define disease mechanisms, establish disease models, and provide a basis for translational research and testing of novel therapeutics. The process of detecting disease mutations, however, has not always been straightforward. Traditional approaches using genetic linkage or candidate gene analysis have often been limited, costly, and slow to yield new insights, but the advent of next-generation sequencing (NGS) technologies has altered the landscape of current gene discovery and mutation detection approaches...
May 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28404629/braf-signaling-principles-unveiled-by-large-scale-human-mutation-analysis-with-a-rapid-lentivirus-based-gene-replacement-method
#8
Chae-Seok Lim, Xi Kang, Vincent Mirabella, Huaye Zhang, Qian Bu, Yoichi Araki, Elizabeth T Hoang, Shiqiang Wang, Ying Shen, Sukwoo Choi, Bong-Kiun Kaang, Qiang Chang, Zhiping P Pang, Richard L Huganir, J Julius Zhu
Rapid advances in genetics are linking mutations on genes to diseases at an exponential rate, yet characterizing the gene mutation-cell behavior relationships essential for precision medicine remains a daunting task. More than 350 mutations on small GTPase BRaf are associated with various tumors, and ∼40 mutations are associated with the neurodevelopmental disorder cardio-facio-cutaneous syndrome (CFC). We developed a fast cost-effective lentivirus-based rapid gene replacement method to interrogate the physiopathology of BRaf and ∼50 disease-linked BRaf mutants, including all CFC-linked mutants...
March 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28400136/reservoir-souring-latest-developments-for-application-and-mitigation
#9
Richard J Johnson, Benjamin D Folwell, Alexander Wirekoh, Max Frenzel, Torben Lund Skovhus
Sulphate-reducing prokaryotes (SRP) have been identified in oil field fluids since the 1920s. SRP reduce sulphate to sulphide, a toxic and corrosive species that impacts on operational safety, metallurgy and both capital and operational cost. Differences in water cut, temperature, pressure and fluid chemistry can impact on the observed H2S concentration, meaning that an increase in H2S concentration does not always correlate with activity of SRP. However it wasn't until the 1990s that SRP activity was accepted as the leading cause of reservoir souring (i...
April 8, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28398847/traceback-a-proposed-framework-to-increase-identification-and-genetic-counseling-of-brca1-and-brca2-mutation-carriers-through-family-based-outreach
#10
Goli Samimi, Marcus Q Bernardini, Lawrence C Brody, Charlisse F Caga-Anan, Ian G Campbell, Georgia Chenevix-Trench, Fergus J Couch, Michael Dean, Joanne A de Hullu, Susan M Domchek, Ronny Drapkin, Heather Spencer Feigelson, Michael Friedlander, Mia M Gaudet, Marline G Harmsen, Karen Hurley, Paul A James, Janice S Kwon, Felicitas Lacbawan, Stephanie Lheureux, Phuong L Mai, Leah E Mechanic, Lori M Minasian, Evan R Myers, Mark E Robson, Susan J Ramus, Lisa F Rezende, Patricia A Shaw, Thomas P Slavin, Elizabeth M Swisher, Masataka Takenaka, David D Bowtell, Mark E Sherman
In May 2016, the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences, National Cancer Institute, convened a workshop to discuss a conceptual framework for identifying and genetically testing previously diagnosed but unreferred patients with ovarian cancer and other unrecognized BRCA1 or BRCA2 mutation carriers to improve the detection of families at risk for breast or ovarian cancer. The concept, designated Traceback, was prompted by the recognition that although BRCA1 and BRCA2 mutations are frequent in women with ovarian cancer, many such women have not been tested, especially if their diagnosis predated changes in testing guidelines...
April 11, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28396697/efficient-and-cost-effective-genetic-analysis-of-products-of-conception-and-fetal-tissues-using-a-qf-pcr-array-cgh-strategy-five-years-of-data
#11
Celia Donaghue, Nada Davies, Joo Wook Ahn, Helen Thomas, Caroline Mackie Ogilvie, Kathy Mann
BACKGROUND: Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb. G-banded chromosome analysis has been replaced by molecular techniques in some laboratories; we previously introduced a QF-PCR/MLPA testing strategy in 2007. To improve diagnostic yield and efficiency we have now updated our testing strategy to a more comprehensive QF-PCR assay followed by array CGH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28391894/cost-effectiveness-of-a-cascade-screening-program-for-the-early-detection-of-familial-hypercholesterolemia
#12
Pablo Lázaro, Leopoldo Pérez de Isla, Gerald F Watts, Rodrigo Alonso, Richard Norman, Ovidio Muñiz, Francisco Fuentes, Nelva Mata, José López-Miranda, José Ramón González-Juanatey, José Luis Díaz-Díaz, Antonio Javier Blasco, Pedro Mata
BACKGROUND: Although familial hypercholesterolemia (FH) confers a high risk of coronary artery disease, most patients are undiagnosed, and little is known about the efficiency of genetic cascade screening programs at national level. OBJECTIVE: The aim of the study was to estimate the cost-effectiveness of a national genetic cascade screening program in Spain. METHODS: An economic evaluation was performed using a decision tree analysis. The choice in the decision tree was between implementation of the national program for FH (NPFH) or keeping the usual clinical care...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28387827/cost-effectiveness-of-cascade-testing-for-familial-hypercholesterolaemia-based-on-data-from-familial-hypercholesterolaemia-services-in-the-uk
#13
Marion Kerr, Robert Pears, Zofia Miedzybrodzka, Kate Haralambos, Moyra Cather, Melanie Watson, Steve E Humphries
Aims: Familial hypercholesterolaemia (FH) is a vastly under-diagnosed genetic disorder, associated with early development of coronary heart disease and premature mortality which can be substantially reduced by effective treatment. Patents have recently expired on high-intensity statins, reducing FH treatment costs. We build a model using UK data to estimate the cost effectiveness of DNA testing of relatives of those with monogenic FH. Methods and results: A Markov model was used to estimate the cost effectiveness of cascade testing, using data from UK cascade services...
April 6, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28386918/does-increased-heat-resistance-result-in-higher-susceptibility-to-predation-a-test-using-drosophila-melanogaster-selection-and-hardening
#14
Sandra Hangartner, Ian Dworkin, Michael DeNieu, Ary A Hoffmann
Heat resistance of ectotherms can be increased both by plasticity and evolution, but these effects may have trade-offs resulting from biotic interactions. Here we test for predation costs in Drosophila melanogaster populations with altered heat resistance produced by adult hardening and directional selection for increased heat resistance. In addition, we also tested for genetic trade-offs by testing heat resistance in lines that have evolved under increased predation risk. We show that while 35/37°C hardening increases heat resistance as expected, it does not increase predation risk from jumping spiders or mantids; in fact there was an indication that survival may have increased under predation following a triple 37°C compared to a single 35°C hardening treatment...
April 7, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28386199/dynamic-population-artificial-bee-colony-algorithm-for-multi-objective-optimal-power-flow
#15
Man Ding, Hanning Chen, Na Lin, Shikai Jing, Fang Liu, Xiaodan Liang, Wei Liu
This paper proposes a novel artificial bee colony algorithm with dynamic population (ABC-DP), which synergizes the idea of extended life-cycle evolving model to balance the exploration and exploitation tradeoff. The proposed ABC-DP is a more bee-colony-realistic model that the bee can reproduce and die dynamically throughout the foraging process and population size varies as the algorithm runs. ABC-DP is then used for solving the optimal power flow (OPF) problem in power systems that considers the cost, loss, and emission impacts as the objective functions...
March 2017: Saudi Journal of Biological Sciences
https://www.readbyqxmd.com/read/28381626/risky-business-for-a-juvenile-marine-predator-testing-the-influence-of-foraging-strategies-on-size-and-growth-rate-under-natural-conditions
#16
Nigel E Hussey, Joseph D DiBattista, Jonathan W Moore, Eric J Ward, Aaron T Fisk, Steven Kessel, Tristan L Guttridge, Kevin A Feldheim, Bryan R Franks, Samuel H Gruber, Ornella C Weideli, Demian D Chapman
Mechanisms driving selection of body size and growth rate in wild marine vertebrates are poorly understood, thus limiting knowledge of their fitness costs at ecological, physiological and genetic scales. Here, we indirectly tested whether selection for size-related traits of juvenile sharks that inhabit a nursery hosting two dichotomous habitats, protected mangroves (low predation risk) and exposed seagrass beds (high predation risk), is influenced by their foraging behaviour. Juvenile sharks displayed a continuum of foraging strategies between mangrove and seagrass areas, with some individuals preferentially feeding in one habitat over another...
April 12, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28380522/optimising-the-proportion-of-selection-candidates-measured-for-feed-intake-for-a-beef-cattle-breeding-objective-that-includes-methane-emissions
#17
D J Cottle, J H J van der Werf
Reducing daily methane production (DMP) via selection for lower estimated daily (pasture) feed intake (DFI) has the potential to be more cost effective than direct selection for DMP. Daily feed intake has a high heritability and high genetic correlation to DMP and has a potential lower cost of measurement. This study's main aim was to determine for a breeding nucleus the optimal proportion of randomly selected young male and female cattle in which to estimate DFI. This optimum proportion was determined by modeling the measurement costs and response to selection of Angus cattle on a (standard industry) Angus breeding index (ABI) augmented with DFI and DMP in a combined breeding objective (BO), but without DMP being measured...
March 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28365572/cost-effectiveness-analysis-for-genotyping-before-allopurinol-treatment-to-prevent-severe-cutaneous-adverse-drug-reactions
#18
Ching-Hua Ke, Wen-Hung Chung, Yen-Hsia Wen, Yaw-Bin Huang, Hung-Yi Chuang, You-Lin Tain, Yu-Ching Lily Wang, Cheng-Chih Wu, Chien-Ning Hsu
OBJECTIVE: Patients with an HLA-B*58:01 allele have an increased risk of developing severe cutaneous adverse drug reactions (SCAR) when treated with allopurinol. Although one-off pharmacogenetic testing may prevent life-threatening adverse drug reactions, testing prior to allopurinol initiation incurs additional costs. The study objective was to evaluate the cost-effectiveness of HLA-B*58:01 screening compared with using other available urate-lowering agents (ULA). METHODS: A decision-analytical model was used to compare direct medical costs and effectiveness [including lifetime saved, quality-adjusted life-yrs (QALY) gained] in treating new patients with the following options: (1) genetic screening followed by allopurinol prescribing for noncarriers of HLAB* 58:01, (2) prescribing benzbromarone without screening, (3) prescribing febuxostat without screening, and (4) prescribing allopurinol without screening...
April 1, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28364120/lateral-antimicrobial-resistance-genetic-transfer-is-active-in-the-open-environment
#19
Luciana S Chamosa, Verónica E Álvarez, Maximiliano Nardelli, María Paula Quiroga, Marcelo H Cassini, Daniela Centrón
Historically, the environment has been viewed as a passive deposit of antimicrobial resistance mechanisms, where bacteria show biological cost for maintenance of these genes. Thus, in the absence of antimicrobial pressure, it is expected that they disappear from environmental bacterial communities. To test this scenario, we studied native IntI1 functionality of 11 class 1 integron-positive environmental strains of distant genera collected in cold and subtropical forests of Argentina. We found natural competence and successful site-specific insertion with no significant fitness cost of both aadB and bla VIM-2 antimicrobial resistance gene cassettes, in a model system without antibiotic pressure...
March 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28361960/sequence-analysis-of-pooled-bacterial-samples-enables-identification-of-strain-variation-in-group-a-streptococcus
#20
Rigbe G Weldatsadik, Jingwen Wang, Kai Puhakainen, Hong Jiao, Jari Jalava, Kati Räisänen, Neeta Datta, Tiina Skoog, Jaana Vuopio, T Sakari Jokiranta, Juha Kere
Knowledge of the genomic variation among different strains of a pathogenic microbial species can help in selecting optimal candidates for diagnostic assays and vaccine development. Pooled sequencing (Pool-seq) is a cost effective approach for population level genetic studies that require large numbers of samples such as various strains of a microbe. To test the use of Pool-seq in identifying variation, we pooled DNA of 100 Streptococcus pyogenes strains of different emm types in two pools, each containing 50 strains...
March 31, 2017: Scientific Reports
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