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https://www.readbyqxmd.com/read/29350312/genesurance-counseling-patient-perspectives
#1
Chelsea Wagner, Lauren Murphy, Jacqueline Harkenrider, Sandra Darilek, Eleazar Soto-Torres, Quinn Stein, Jennifer Hoskovec
Genetic counselors (GCs) have reported an increase in discussion of insurance-related, or "genesurance," topics during genetic counseling sessions. Despite increasing frequency, there have been no studies examining patient expectations of GCs in these discussions. This study aimed to explore patient expectations of GCs in these discussions, as well as examine factors that may impact expectations. A 38-item survey was administered prior to patients receiving prenatal or cancer genetic counseling at 11 clinic sites across UTHealth, Baylor College of Medicine, and Sanford Health, with 360 responses analyzed...
January 19, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29349761/multi-gene-panel-testing-in-breast-cancer-management
#2
Christos Fountzilas, Virginia G Kaklamani
Hereditary predisposition accounts for approximately 10% of all breast cancers and is mostly associated with germline mutations in high-penetrance genes encoding for proteins participating in DNA repair through homologous recombination (BRCA1 and BRCA2). With the advent of massive parallel next-generation DNA sequencing, simultaneous analysis of multiple genes with a short turnaround time and at a low cost has become possible. The clinical validity and utility of multi-gene panel testing is getting better characterized as more data on the significance of moderate-penetrance genes are collected from large, cancer genetic testing studies...
2018: Cancer Treatment and Research
https://www.readbyqxmd.com/read/29339979/brca1-and-brca2-mutation-spectrum-an-update-on-mutation-distribution-in-a-large-cancer-genetics-clinic-in-norway
#3
Cecilie Heramb, Teresia Wangensteen, Eli Marie Grindedal, Sarah Louise Ariansen, Sheba Lothe, Ketil Riddervold Heimdal, Lovise Mæhle
Background: Founder mutations in the two breast cancer genes, BRCA1 and BRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ancestry has been a cost-efficient approach in such populations. Four Norwegian BRCA1 founder mutations were defined by haplotyping in 2001, and accounted for 68% of BRCA1 mutation carriers at the time. After 15 more years of genetic testing, updated knowledge on the mutation spectrum of both BRCA1 and BRCA2 in Norway is needed...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29337226/glp-1-signaling-and-alcohol-mediated-behaviors-preclinical-and-clinical-evidence
#4
REVIEW
Elisabet Jerlhag
Alcohol addiction, affecting approximately four percent of the population, contributes significantly to the global burden of diseases and is a substantial cost to the society. The neurochemical mechanisms regulating alcohol mediated behaviors is complex and in more recent years a new physiological role of the gut-brain peptides, traditionally known to regulate appetite and food intake, have been suggested. Indeed, regulators of alcohol-mediated behaviors. One of these gut-brain peptides is the annorexigenic peptide glucagon-like peptide-1 (GLP-1), Preclinical studies show that GLP-1 receptor activation, either by GLP-1 or analogues, attenuate the ability of alcohol to activate the mesolimbic dopamine system as well as decrease alcohol consumption and operant self-administration...
January 11, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29332214/targeted-next-generation-sequencing-in-patients-with-non-syndromic-congenital-heart-disease
#5
Silvia Pulignani, Cecilia Vecoli, Andrea Borghini, Ilenia Foffa, Lamia Ait-Alì, Maria Grazia Andreassi
Congenital heart disease (CHD) is a genetically heterogeneous disease. Targeted next-generation sequencing (NGS) offers a unique opportunity to sequence multiple genes at lower cost and effort compared to Sanger sequencing. We tested a targeted NGS of a specific gene panel in a relatively large population of non-syndromic CHD patients. The patient cohort comprised 68 CHD patients (45 males; 8.3 ± 1.7 years). Amplicon libraries for 16 CHD-strictly related genes were generated using a TruSeq® Custom Amplicon kit (Illumina, CA) and sequenced using the Illumina MiSeq platform...
January 13, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29331471/symposium-review-novel-strategies-to-genetically-improve-mastitis-resistance-in-dairy-cattle
#6
P Martin, H W Barkema, L F Brito, S G Narayana, F Miglior
Mastitis is a disease of major economic importance to the dairy cattle sector because of the high incidence of clinical mastitis and prevalence of subclinical mastitis and, consequently, the costs associated with treatment, production losses, and reduced animal welfare. Disease-recording systems compiling data from a large number of farms are still not widely implemented around the world; thus, selection for mastitis resistance is often based on genetically correlated indicator traits such as somatic cell count (SCC), udder depth, and fore udder attachment...
January 10, 2018: Journal of Dairy Science
https://www.readbyqxmd.com/read/29326146/prior-authorization-requirements-for-proprotein-convertase-subtilisin-kexin-type-9-inhibitors-across-us-private-and-public-payers
#7
Jalpa A Doshi, Justin T Puckett, Michael S Parmacek, Daniel J Rader
BACKGROUND: Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9is) are an innovative treatment option for patients with familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease who require further lowering of low-density lipoprotein cholesterol. However, the high costs of these agents have spurred payers to implement utilization management policies to ensure appropriate use. We examined prior authorization (PA) requirements for PCSK9is across private and public US payers...
January 2018: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29323820/genetics-and-genomics-in-clinical-practice-the-views-of-wisconsin-physicians
#8
Michael P McCauley, Rebecca K Marcus, Kimberly A Strong, Alexis M Visotcky, Mary E Shimoyama, Arthur R Derse
INTRODUCTION: Decreasing costs and increased availability of genetic testing and genome sequencing mean many physicians will consider using these services over the next few years. Despite this promising future, some argue the present roadmap for translating genetics and genomics into routine clinical practice is unclear. OBJECTIVE: We conducted a pilot study to explore Wisconsin physicians' views, practices and educational desires regarding genetic and genomic testing...
June 2017: WMJ: Official Publication of the State Medical Society of Wisconsin
https://www.readbyqxmd.com/read/29321864/the-evolution-of-sexes-a-specific-test-of-the-disruptive-selection-theory
#9
Jack da Silva
The disruptive selection theory of the evolution of anisogamy posits that the evolution of a larger body or greater organismal complexity selects for a larger zygote, which in turn selects for larger gametes. This may provide the opportunity for one mating type to produce more numerous, small gametes, forcing the other mating type to produce fewer, large gametes. Predictions common to this and related theories have been partially upheld. Here, a prediction specific to the disruptive selection theory is derived from a previously published game-theoretic model that represents the most complete description of the theory...
January 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#10
REVIEW
Jane Hayward, Lyn S Chitty
Emerging genomic technologies, largely based around next generation sequencing (NGS), are offering new promise for safer prenatal genetic diagnosis. These innovative approaches will improve screening for fetal aneuploidy, allow definitive non-invasive prenatal diagnosis (NIPD) of single gene disorders at an early gestational stage without the need for invasive testing, and improve our ability to detect monogenic disorders as the aetiology of fetal abnormalities. This presents clinicians and scientists with novel challenges as well as opportunities...
January 2, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29301558/leucine-and-ace-inhibitors-as-therapies-for-sarcopenia-lace-trial-study-protocol-for-a-randomised-controlled-trial
#11
Margaret M Band, Deepa Sumukadas, Allan D Struthers, Alison Avenell, Peter T Donnan, Paul R Kemp, Karen T Smith, Cheryl L Hume, Adrian Hapca, Miles D Witham
BACKGROUND: Sarcopenia (the age-related loss of muscle mass and function) is a major contributor to loss of mobility, falls, loss of independence, morbidity and mortality in older people. Although resistance training is effective in preventing and reversing sarcopenia, many older people are sedentary and either cannot or do not want to exercise. This trial examines the efficacy of supplementation with the amino acid leucine and/or angiotensin converting enzyme inhibition to potentially improve muscle mass and function in people with sarcopenia...
January 4, 2018: Trials
https://www.readbyqxmd.com/read/29300866/diagnostic-utility-of-molecular-and-imaging-biomarkers-in-cytological-indeterminate-thyroid-nodules
#12
Elizabeth J de Koster, Lioe-Fee de Geus-Oei, Olaf M Dekkers, Ilse van Engen-van Grunsven, Jaap Hamming, Eleonora P M Corssmit, Hans Morreau, Abbey Schepers, Jan Smit, Wim J G Oyen, Dennis Vriens
Indeterminate thyroid cytology (Bethesda III and IV) corresponds to follicular-patterned benign and malignant lesions, which are particularly difficult to differentiate on cytology alone. As approximately 25% of these nodules harbor malignancy, diagnostic hemithyroidectomy is still custom. However, advanced preoperative diagnostics are rapidly evolving.This review provides an overview of additional molecular and imaging diagnostics for indeterminate thyroid nodules in a pre-operative clinical setting, including considerations regarding cost-effectiveness, availability, and feasibility of combining techniques...
January 2, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29300376/cost-effectiveness-analysis-of-germ-line-brca-testing-in-women-with-breast-cancer-and-cascade-testing-in-family-members-of-mutation-carriers
#13
Haitham W Tuffaha, Andrew Mitchell, Robyn L Ward, Luke Connelly, James R G Butler, Sarah Norris, Paul A Scuffham
PurposeTo evaluate the cost-effectiveness of BRCA testing in women with breast cancer, and cascade testing in family members of BRCA mutation carriers.MethodsA cost-effectiveness analysis was conducted using a cohort Markov model from a health-payer perspective. The model estimated the long-term benefits and costs of testing women with breast cancer who had at least a 10% pretest BRCA mutation probability, and the cascade testing of first- and second-degree relatives of women who test positive.ResultsCompared with no testing, BRCA testing of affected women resulted in an incremental cost per quality-adjusted life-year (QALY) gained of AU$18,900 (incremental cost AU$1,880; incremental QALY gain 0...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29300375/the-cost-and-diagnostic-yield-of-exome-sequencing-for-children-with-suspected-genetic-disorders-a-benchmarking-study
#14
Nick Dragojlovic, Alison M Elliott, Shelin Adam, Clara van Karnebeek, Anna Lehman, Jill C Mwenifumbo, Tanya N Nelson, Christèle du Souich, Jan M Friedman, Larry D Lynd
PurposeThis study aimed to generate benchmark estimates for the cost, diagnostic yield, and cost per positive diagnosis of diagnostic exome sequencing (ES) in heterogeneous pediatric patient populations and to illustrate how the design of an ES service can influence its cost and yield.MethodsA literature review and Monte Carlo simulations were used to generate benchmark estimates for singleton and trio ES. A cost model for the Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) study, which is testing a proposed delivery model for diagnostic ES in British Columbia, is used to illustrate the potential effects of changing the service design...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29300371/which-lynch-syndrome-screening-programs-could-be-implemented-in-the-real-world-a-systematic-review-of-economic-evaluations
#15
Marco Di Marco, Elvira D'Andrea, Nikola Panic, Valentina Baccolini, Giuseppe Migliara, Carolina Marzuillo, Corrado De Vito, Roberta Pastorino, Stefania Boccia, Paolo Villari
PurposeLynch syndrome (LS) screening can significantly reduce cancer morbidity and mortality in mutation carriers. Our aim was to identify cost-effective LS screening programs that can be implemented in the "real world."MethodsWe performed a systematic review of full economic evaluations of genetic screening for LS in different target populations; health outcomes were estimated in life-years gained or quality-adjusted life-years.ResultsOverall, 20 studies were included in the systematic review. Based on the study populations, we identified six categories of LS screening program: colorectal cancer (CRC)-based, endometrial cancer-based, general population-based, LS family registry-based, cascade testing-based, and genetics clinic-based screening programs...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29299300/an-integrative-mating-system-assessment-of-a-nonmodel-economically-important-pacific-rockfish-sebastes-melanops-reveals-nonterritorial-polygamy-and-conservation-implications-for-a-large-species-flock
#16
Kurt W Karageorge, Raymond R Wilson
Characterizing the mating systems of long-lived, economically important Pacific rockfishes comprising the viviparous Sebastes species flock is crucial for their conservation. However, direct assignment of mating success to sires is precluded by open, offshore populations and high female fecundity. We addressed this challenge by integrating paternity-assigned mating success of females with the adult sex ratio (ASR) of the population, male evolutionary responses to receptive females, and reproductive life history traits-in the framework of sexual selection theory-to assess the mating system of Sebastes melanops...
December 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29298994/cost-effectiveness-of-hla-dqb1-hla-b-pharmacogenetic-guided-treatment-and-blood-monitoring-in-us-patients-taking-clozapine
#17
François R Girardin, Antoine Poncet, Arnaud Perrier, Nathalie Vernaz, Mark Pletscher, Caroline F Samer, Jeffrey A Lieberman, Jean Villard
Less than 1% of adult patients with schizophrenia taking clozapine develop agranulocytosis, and most of these cases occur within the first weeks of treatment. The human leukocyte antigen (HLA) region has been associated with genetic susceptibility to clozapine-induced agranulocytosis (single amino acid changes in HLA-DQB1 (126Q) and HLA-B (158T)). The current study aimed to evaluate the cost-effectiveness, from a healthcare provider's perspective, of an HLA genotype-guided approach in patients with treatment-resistant schizophrenia who were taking clozapine and to compare the results with the current absolute neutrophil count monitoring (ANCM) schemes used in the USA...
January 3, 2018: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29286379/automated-robotic-liquid-handling-assembly-of-modular-dna-devices
#18
Luis Ortiz, Marilene Pavan, Lloyd McCarthy, Joshua Timmons, Douglas M Densmore
Recent advances in modular DNA assembly techniques have enabled synthetic biologists to test significantly more of the available "design space" represented by "devices" created as combinations of individual genetic components. However, manual assembly of such large numbers of devices is time-intensive, error-prone, and costly. The increasing sophistication and scale of synthetic biology research necessitates an efficient, reproducible way to accommodate large-scale, complex, and high throughput device construction...
December 1, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29282784/temperature-fluctuations-during-development-reduce-male-fitness-and-may-limit-adaptive-potential-in-tropical-rainforest-drosophila
#19
Andrew D Saxon, Eleanor K O'Brien, Jon R Bridle
Understanding the potential for organisms to tolerate thermal stress through physiological or evolutionary responses is crucial given rapid climate change. Although climate models predict increases in both temperature mean and variance, such tolerances are typically assessed under constant conditions. We tested the effects of temperature variability during development on male fitness in the rainforest fly Drosophila birchii, by simulating thermal variation typical of the warm and cool margins of its elevational distribution, and estimated heritabilities and genetic correlations of fitness traits...
December 28, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/29281959/a-comparison-of-genotyping-by-sequencing-analysis-methods-on-low-coverage-crop-datasets-shows-advantages-of-a-new-workflow-gb-easy
#20
Daniel P Wickland, Gopal Battu, Karen A Hudson, Brian W Diers, Matthew E Hudson
BACKGROUND: Genotyping-by-sequencing (GBS), a method to identify genetic variants and quickly genotype samples, reduces genome complexity by using restriction enzymes to divide the genome into fragments whose ends are sequenced on short-read sequencing platforms. While cost-effective, this method produces extensive missing data and requires complex bioinformatics analysis. GBS is most commonly used on crop plant genomes, and because crop plants have highly variable ploidy and repeat content, the performance of GBS analysis software can vary by target organism...
December 28, 2017: BMC Bioinformatics
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