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https://www.readbyqxmd.com/read/28641282/health-related-genetic-direct-to-consumer-tests-in-the-german-setting-the-available-offer-and-the-potential-implications-for-a-solidarily-financed-health-care-system
#1
Marika Plöthner, Mike Klora, Daniel Rudolph, Johann-Matthias Graf von der Schulenburg
BACKGROUND: The global genetic direct-to-consumer (DTC) market will reach a volume of USD 230 billion in 2018. The expenditures for this genetic analysis are borne by the customer, whereas consequential costs may arise for a solidarily financed system. In a first step, it is essential to gain an overview of the currently available offer in the German setting. METHODS: In April 2016, we conducted a systematic internet search in the Google search engine. In November 2016, we updated the information of the webpages in terms of country, language, types of health-related tests, additional offer of non-health-related DTC test, information about sensitivity and specificity, certification and accreditation, costs as well as reference to German Act on Genetic Testing...
June 23, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28633170/teaching-primary-care-genetics-a-randomized-controlled-trial-comparison
#2
Deanna Telner, June C Carroll, Glenn Regehr, Diana Tabak, Kara Semotiuk, Risa Freeman
BACKGROUND AND OBJECTIVE: Given the increasing discussions of the impact of genetic medicine within family medicine, it is important to determine the most effective way of teaching this material to family medicine residents (FMRs). The objective of this study was to evaluate and compare the impact of three methods of delivering primary care genetic content to FMRs. METHODS: Curriculum materials and assessment tools were created to teach and evaluate knowledge, skills, and attitudes around four core competencies in primary care genetics, with a focus on hereditary colorectal cancer (CRC)...
June 2017: Family Medicine
https://www.readbyqxmd.com/read/28631319/herbivory-induced-jasmonates-constrain-plant-sugar-accumulation-and-growth-by-antagonizing-gibberellin-signaling-and-not-by-promoting-secondary-metabolite-production
#3
Ricardo A R Machado, Ian T Baldwin, Matthias Erb
Plants respond to herbivory by reconfiguring hormonal networks, increasing secondary metabolite production and decreasing growth. Furthermore, some plants display a decrease in leaf energy reserves in the form of soluble sugars and starch, leading to the hypothesis that herbivory-induced secondary metabolite production and growth reduction may be linked through a carbohydrate-based resource trade-off. In order to test the above hypothesis, we measured leaf carbohydrates and plant growth in seven genetically engineered Nicotiana attenuata genotypes that are deficient in one or several major herbivore-induced, jasmonate-dependent defensive secondary metabolites and proteins...
July 2017: New Phytologist
https://www.readbyqxmd.com/read/28624286/genomic-evaluation-of-age-at-first-calving
#4
J L Hutchison, P M VanRaden, D J Null, J B Cole, D M Bickhart
From their time of birth until their first lactation, dairy heifers incur management, health, and feed expenses while not producing milk. Much effort has been made to estimate optimal ages of first calving (AFC) for cows to reduce these costs, which can be as high as $2.50 per day, and ensure that animals are productive earlier in life. To identify AFC for 3 dairy cattle breeds (Holstein, Jersey, and Brown Swiss) that maximizes production, we retrieved phenotypic records for more than 14 million cows calving between 1997 and 2015 from the US national dairy database...
June 14, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28622609/the-strategic-defense-of-physician-autonomy-state-public-health-agencies-as-countervailing-powers
#5
Laura Senier, Rachael Lee, Lauren Nicoll
Advances in genetic testing and the aggressive marketing of genetic tests by commercial diagnostic laboratories have driven both consumer demand and the need for unbiased information about how tests should guide healthcare delivery. This paper uses the countervailing powers framework to explore the role of state public health agencies as arbiters of quality and safety, specifically through their efforts to encourage physicians to follow evidence-based recommendations for screening for hereditary cancers. Social scientists have often viewed actions by the state to regulate cost, quality, or safety as a threat to physician autonomy...
June 3, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28620124/a-high-throughput-field-based-phenotyping-technology-for-tall-biomass-crops
#6
Maria G Salas Fernandez, Yin Bao, Lie Tang, Patrick S Schnable
Recent advances in "omics" technologies have not been accompanied by equally efficient, cost-effective and accurate phenotyping methods required to dissect the genetic architecture of complex traits. Even though high-throughput phenotyping platforms have been developed for controlled environments, field-based aerial and ground technologies have only been designed and deployed for short stature crops. Therefore, we developed and tested Phenobot 1.0, an auto-steered and self-propelled field-based high-throughput phenotyping platform for tall dense canopy crops, such as sorghum (Sorghum bicolor L...
June 15, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28616179/prediction-of-harmful-variants-on-mitochondrial-genes-test-of-habitat-dependent-and-demographic-effects-in-a-euryhaline-fish
#7
Anti Vasemägi, Janne Sulku, Matthieu Bruneaux, Olaf Thalmann, Hannu Mäkinen, Mikhail Ozerov
Both effective population size and life history may influence the efficacy of purifying selection, but it remains unclear if the environment affects the accumulation of weakly deleterious nonsynonymous polymorphisms. We hypothesize that the reduced energetic cost of osmoregulation in brackish water habitat may cause relaxation of selective constraints at mitochondrial oxidative phosphorylation (OXPHOS) genes. To test this hypothesis, we analyzed 57 complete mitochondrial genomes of Pungitius pungitius collected from brackish and freshwater habitats...
June 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28613942/attitudes-toward-genetic-counseling-and-testing-in-patients-with-inherited-endocrinopathies
#8
Thomas M Gallagher, Maura Bucciarelli, Sandra L Kavalukas, Maria J Baker, Brian D Saunders
OBJECTIVE: Inherited endocrinopathies are rare tumor predisposition syndromes associated with significant morbidity and mortality and have implications for both patients and their families. Prior studies suggest that early diagnosis of inherited endocrinopathies may reduce morbidity and mortality. Although genetic counseling and testing can help inform the appropriate management of at-risk relatives, barriers to care still exist. We explored patient perceptions to identify barriers and promote the uptake of genetic counseling...
June 14, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28607506/cost-effectiveness-of-pharmacogenetic-guided-treatment-are-we-there-yet
#9
REVIEW
M Verbelen, M E Weale, C M Lewis
Pharmacogenetics (PGx) has the potential to personalize pharmaceutical treatments. Many relevant gene-drug associations have been discovered, but PGx-guided treatment needs to be cost-effective as well as clinically beneficial to be incorporated into standard health-care. We reviewed economic evaluations for PGx associations listed in the US Food and Drug Administration (FDA) Table of Pharmacogenomic Biomarkers in Drug Labeling. We determined the proportion of evaluations that found PGx-guided treatment to be cost-effective or dominant over the alternative strategies, and estimated the impact on this proportion of removing the cost of genetic testing...
June 13, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28600743/-ataxias-and-hereditary-spastic-paraplegias
#10
REVIEW
R Schüle, L Schöls
Hereditary ataxias and spastic paraplegias are genetic disorders with age-dependent nearly complete penetrance. The mostly monogenetic etiology allows one to establish the diagnosis, study pathogenesis and to develop new causative therapeutic approaches for these diseases. Both the causative genes as well as the clinical presentation overlap considerably between hereditary ataxias and spastic paraplegias. This strongly argues towards a united classification for these two groups of diseases. Next generation sequencing technologies have greatly expanded the number of genes known to be causative for hereditary ataxias and spastic paraplegias and allow simultaneous time- and cost-effective diagnostic testing of > 200 genes...
June 9, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28600337/high-throughput-sequencing-for-noninvasive-disease-detection-in-hematologic-malignancies
#11
Florian Scherer, David M Kurtz, Maximilian Diehn, Ash A Alizadeh
Noninvasive monitoring of minimal residual disease (MRD) has led to significant advances in personalized management of patients with hematologic malignancies. Improved therapeutic options and prolonged survival have further increased the need for sensitive tumor assessment that can inform treatment decisions and patient outcomes. At diagnosis or relapse of most hematologic neoplasms, malignant cells are often easily accessible in the blood as circulating tumor cells (CTCs), making them ideal targets to noninvasively profile the molecular features of each patient...
June 9, 2017: Blood
https://www.readbyqxmd.com/read/28599402/robin-hood-a-cost-efficient-two-stage-approach-to-large-scale-simultaneous-inference-with-non-homogeneous-sparse-effects
#12
Jakub Pecanka, Jelle Goeman
A classical approach to experimental design in many scientific fields is to first gather all of the data and then analyze it in a single analysis. It has been recognized that in many areas such practice leaves substantial room for improvement in terms of the researcher's ability to identify relevant effects, in terms of cost efficiency, or both. Considerable attention has been paid in recent years to multi-stage designs, in which the user alternates between data collection and analysis and thereby sequentially reduces the size of the problem...
May 25, 2017: Statistical Applications in Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28597138/advances-in-renal-genetic-diagnosis
#13
REVIEW
Carsten Bergmann
Most genetic disorders are clinically and genetically heterogeneous. Next-generation sequencing (NGS) has revolutionized the field and is providing rapidly growing insights into the pathomechanism of hereditary nephropathies. Current best-practice guidelines for most hereditary nephropathies include genetic diagnostics. The increasing number of genes that have to be considered in patients with hereditary nephropathies is often challenging when addressed by conventional techniques and largely benefits from NGS-based approaches that allow the parallel analysis of all disease genes in a single test at relatively low cost, e...
July 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28593375/clinical-implication-of-novel-drug-resistance-conferring-mutations-in-resistant-tuberculosis
#14
REVIEW
N P Mnyambwa, D-J Kim, E S Ngadaya, R Kazwala, P Petrucka, S G Mfinanga
Evolving novel and/or unfamiliar mutations are revolutionizing the pathways of antibiotic resistance of clinical tuberculosis. The accumulation and interaction of these poorly characterized mutations augment the complexity of resistant pathogenic strains and raise public health concerns. This article reviews our current understanding of the genetic changes that characterize drug resistance in tuberculosis and highlights the imperative for further investigations focusing on the effects of an individual mutation and interacting mutations with detailed strain epidemiology, particularly as these pertain to technology-limited countries with high tuberculosis incidence rates...
June 7, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28592992/streamlining-recombination-mediated-genetic-engineering-by-validating-three-neutral-integration-sites-in-synechococcus-sp-pcc-7002
#15
Anne Ilse Maria Vogel, Rahmi Lale, Martin Frank Hohmann-Marriott
BACKGROUND: Synechococcus sp. PCC 7002 (henceforth Synechococcus) is developing into a powerful synthetic biology chassis. In order to streamline the integration of genes into the Synechococcus chromosome, validation of neutral integration sites with optimization of the DNA transformation protocol parameters is necessary. Availability of BioBrick-compatible integration modules is desirable to further simplifying chromosomal integrations. RESULTS: We designed three BioBrick-compatible genetic modules, each targeting a separate neutral integration site, A2842, A0935, and A0159, with varying length of homologous region, spanning from 100 to 800 nt...
2017: Journal of Biological Engineering
https://www.readbyqxmd.com/read/28589870/-making-better-use-of-the-clinical-geneticist-s-expertise-treating-physician-could-request-a-dna-test-for-most-cancer-patients
#16
C M Aalfs, A M Westermann, C G van El
Eight university medical centres in the Netherlands have established clinical genetic services. Patients receive intensive, and therefore costly, genetic counselling before genetic testing takes place. In recent years the number of patients referred to clinical genetic services has risen dramatically, creating waiting-list backlogs. Knowing your carrier status in hereditary cancers, for instance for a BRCA1/2 mutation, can have consequences for surveillance, treatment, and prevention; however, 90% of patients with breast cancer do not have a mutation...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28587735/the-invasive-menc-cc103-lineage-with-penicillin-reduced-susceptibility-persisting-in-brazil
#17
Érica L Fonseca, Michel A Marin, Fernanda S Freitas, Bruna S A Vitório, Flávio M G de Araújo, Dhian R A Camargo, Roney S Coimbra, Ivano R De Filippis, Ana Carolina P Vicente
Penicillin is the antibiotic of choice for the treatment of meningococcal infections, and mutations in penA gene are involved with reduced susceptibility (pen(I)) emergence to this antibiotic. This study aimed to characterize the penA allelic diversity, their association with pen(I) phenotype and distribution among prevalent meningococci serogroups in Brazil. The entire penA from 49 invasive strains of distinct serogroups circulating in Brazil for more than two decades were obtained by PCR and sequencing. Additionally, the penA from 22 publicly available complete Neisseria meningitidis genomes from Brazil were included in the study...
May 25, 2017: International Journal of Medical Microbiology: IJMM
https://www.readbyqxmd.com/read/28583702/barriers-to-genetic-testing-for-pediatric-medicaid-beneficiaries-with-epilepsy
#18
Eric J Kutscher, Sucheta M Joshi, Anup D Patel, Baria Hafeez, Zachary M Grinspan
BACKGROUND: Children with public insurance (Medicaid) have increased barriers to specialty care in the United States. For children with epilepsy, the relationship between public insurance and barriers to genetic testing is understudied. METHODS: We surveyed a sample of US child neurology clinicians. We performed quantitative and qualitative analysis of responses. RESULTS: There were 302 responses (of 1982 surveyed; response rate 15%) from clinicians from 46 states, the District of Columbia, and Puerto Rico, including board-certified child neurologists (82%), resident physicians (6%), nurses (3%), and nurse practitioners (3%)...
April 20, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28582707/an-ultrasensitive-label-free-electrochemiluminescent-immunosensor-for-measuring-cry1ab-level-and-genetically-modified-crops-content
#19
Hongfei Gao, Luke Wen, Yuhua Wu, Zhifeng Fu, Gang Wu
The development of genetically modified (GM) insect-resistant crops has aroused great public concern about the risks on the eco-environment resulting from a release of toxic Cry proteins (such as Cry1Ab) to the soil. Therefore, it is of crucial importance to measure the Cry proteins level and the GM crops content. Here, we have tested for the first time a method that uses novel carbon nanospheres (CNPs) label-free electrochemiluminescent (ECL) immunosensor for the ultrasensitive quantification of Cry1Ab and GM crops...
April 24, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28577986/automated-analysis-of-brain-activity-for-seizure-detection-in-zebrafish-models-of-epilepsy
#20
Borbála Hunyadi, Aleksandra Siekierska, Jo Sourbron, Daniëlle Copmans, Peter A M de Witte
BACKGROUND: Epilepsy is a chronic neurological condition, with over 30% of cases unresponsive to treatment. Zebrafish larvae show great potential to serve as an animal model of epilepsy in drug discovery. Thanks to their high fecundity and relatively low cost, they are amenable to high-throughput screening. However, the assessment of seizure occurrences in zebrafish larvae remains a bottleneck, as visual analysis is subjective and time-consuming. NEW METHOD: For the first time, we present an automated algorithm to detect epileptic discharges in single-channel local field potential (LFP) recordings in zebrafish...
June 1, 2017: Journal of Neuroscience Methods
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