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https://www.readbyqxmd.com/read/27921251/skin-manifestations-of-insulin-resistance-from-a-biochemical-stance-to-a-clinical-diagnosis-and-management
#1
REVIEW
Gloria González-Saldivar, René Rodríguez-Gutiérrez, Jorge Ocampo-Candiani, José Gerardo González-González, Minerva Gómez-Flores
Worldwide, more than 1.9 billion adults are overweight, and around 600 million people suffer from obesity. Similarly, ~382 million individuals live with diabetes, and 40-50% of the global population is labeled at "high risk" (i.e., prediabetes). The impact of these two chronic conditions relies not only on the burden of illnesses per se (i.e., associated increased morbidity and mortality), but also on their increased cost, burden of treatment, and decreased health-related quality of life. For this review a comprehensive search in several databases including PubMed (MEDLINE), Ovid EMBASE, Web of Science, and Scopus was conducted...
December 5, 2016: Dermatology and Therapy
https://www.readbyqxmd.com/read/27912794/a-genetic-risk-score-composed-of-rheumatoid-arthritis-risk-alleles-hla-drb1-haplotypes-and-response-to-tnfi-therapy-results-from-a-swedish-cohort-study
#2
Xia Jiang, Johan Askling, Saedis Saevarsdottir, Leonid Padyukov, Lars Alfredsson, Sebastien Viatte, Thomas Frisell
BACKGROUND: To prevent debilitating and irreversible joint damage, rheumatoid arthritis (RA) is often treated with tumor necrosis factor inhibitor (TNFi), but many patients do not respond to this costly therapy. Few predictors for response are known, and it has been proposed that genetic factors which influence the development of RA may also influence disease severity and response to therapy. Several previous studies have attempted to confirm this but results remain inconclusive. We expand on previous studies by including more RA risk alleles, and maximize power by combining them into a genetic risk score...
December 3, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27910721/care-delivery-considerations-for-widespread-and-equitable-implementation-of-inherited-cancer-predisposition-testing
#3
Deborah Cragun, Anita Y Kinney, Tuya Pal
DNA sequencing advances through next-generation sequencing (NGS) and several practice changing events, have led to shifting paradigms for inherited cancer predisposition testing. These changes necessitated a means by which to maximize health benefits without unnecessarily inflating healthcare costs and exacerbating health disparities. Areas covered: NGS-based tests encompass multi-gene panel tests, whole exome sequencing, and whole genome sequencing, all of which test for multiple genes simultaneously, compared to prior sequencing practices through which testing was performed sequentially for one or two genes...
December 2, 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27906166/which-brca-genetic-testing-programs-are-ready-for-implementation-in-health-care-a-systematic-review-of-economic-evaluations
#4
Elvira D'Andrea, Carolina Marzuillo, Corrado De Vito, Marco Di Marco, Erica Pitini, Maria Rosaria Vacchio, Paolo Villari
PURPOSE: There is considerable evidence regarding the efficacy and effectiveness of BRCA genetic testing programs, but whether they represent good use of financial resources is not clear. Therefore, we aimed to identify the main health-care programs for BRCA testing and to evaluate their cost-effectiveness. METHODS: We performed a systematic review of full economic evaluations of health-care programs involving BRCA testing. RESULTS: Nine economic evaluations were included, and four main categories of BRCA testing programs were identified: (i) population-based genetic screening of individuals without cancer, either comprehensive or targeted based on ancestry; (ii) family history (FH)-based genetic screening, i...
December 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27899776/-new-classification-for-advanced-colorectal-cancer-using-cancerplex%C3%A2-genomic-tests
#5
Hitoshi Kameyama, Yoshifumi Shimada, Hiroshi Ichikawa, Masayuki Nagahashi, Jun Sakata, Takashi Kobayashi, Hitoshi Nogami, Satoshi Maruyama, Yasumasa Takii, Shujiro Okuda, Yiwei Ling, Hiroshi Izutsu, Keisuke Kodama, Mitsutaka Nakada, Toshifumi Wakai
Recently, targeted drugs have been developed for the treatment of colorectal cancer(CRC). Among targets, it is well known that KRAS mutations are associated with resistance to epidermal growth factor receptor(EGFR)monoclonal antibodies. However, response rates using anti-EGFR monotherapy for CRC were less than 20-30% in previous clinical studies. Thus, because the RAS/MAP2K/MAPK and PI3K/AKT pathways are associated with CRC resistance to chemotherapy, we analyzed gene mutations in Stage IV CRC patients using a genomic test(CancerPlex®)...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/27899693/performance-testing-of-rreb1-myb-and-ccnd1-fluorescence-in-situ-hybridization-in-spindle-cell-and-desmoplastic-melanoma-argues-for-a-two-step-test-algorithm
#6
Stephanie E Weissinger, Manfred Frick, Peter Möller, Basil A Horst, Jochen K Lennerz
Background Diagnostic confirmation of spindle-cell melanoma (SM) or desmoplastic melanoma (DM) as a melanoma can be challenging. In conventional melanoma (CM), a recently established fluorescence in situ hybridization (FISH) assay for RREB1, MYB, CCND1 can be helpful. Here, we determined the presence of RREB1, MYB, and CCND1 abnormalities in an SM/DM/mixed cohort. Methods We assembled 49 cases and performed 3 separate hybridizations for RREB1/MYB/CCND1 We assessed clinical utility in diagnostically challenging cases and performed a cost and turnaround time analysis...
November 29, 2016: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27899183/updates-on-breast-cancer-genetics-clinical-implications-of-detecting-syndromes-of-inherited-increased-susceptibility-to-breast-cancer
#7
REVIEW
Erin F Cobain, Kara J Milliron, Sofia D Merajver
Since the initial discovery that pathogenic germline alterations in BRCA 1/2 increase susceptibility to breast and ovarian cancer, many additional genes have now been discovered that also increase breast cancer risk. Given that several more genes have now been implicated in hereditary breast cancer syndromes, there is increased clinical use of multigene panel testing to evaluate patients with a suspected genetic predisposition to breast cancer. While this is most certainly a cost-effective approach, broader testing strategies have resulted in a higher likelihood of identifying moderate-penetrance genes, for which management guidelines regarding breast cancer risk reduction have not been firmly established...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27898838/assessment-of-cultivar-distinctness-in-alfalfa-a-comparison-of-genotyping-by-sequencing-simple-sequence-repeat-marker-and-morphophysiological-observations
#8
Paolo Annicchiarico, Nelson Nazzicari, Acharya Ananta, Maria Carelli, Yanling Wei, E Charles Brummer
Cultivar registration agencies typically require morphophysiological trait-based distinctness of candidate cultivars. This requirement is difficult to achieve for cultivars of major perennial forages because of their genetic structure and ever-increasing number of registered material, leading to possible rejection of agronomically valuable cultivars. This study aimed to explore the value of molecular markers applied to replicated bulked plants (three bulks of 100 independent plants each per cultivar) to assess alfalfa ( L...
July 2016: Plant Genome
https://www.readbyqxmd.com/read/27898018/combating-ebola-with-repurposed-therapeutics-using-the-cando-platform
#9
Gaurav Chopra, Sashank Kaushik, Peter L Elkin, Ram Samudrala
Ebola virus disease (EVD) is extremely virulent with an estimated mortality rate of up to 90%. However, the state-of-the-art treatment for EVD is limited to quarantine and supportive care. The 2014 Ebola epidemic in West Africa, the largest in history, is believed to have caused more than 11,000 fatalities. The countries worst affected are also among the poorest in the world. Given the complexities, time, and resources required for a novel drug development, finding efficient drug discovery pathways is going to be crucial in the fight against future outbreaks...
November 25, 2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/27896286/aneuploidy-screening-using-circulating-fetal-cells-in-maternal-blood-by-dual-probe-fish-protocol-a-prospective-feasibility-study-on-a-series-of-172-pregnant-women
#10
Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar
BACKGROUND: A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual-probe FISH protocol to fetal cells isolated and enriched from maternal blood...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27893845/meta-heuristics-in-short-scale-construction-ant-colony-optimization-and-genetic-algorithm
#11
Ulrich Schroeders, Oliver Wilhelm, Gabriel Olaru
The advent of large-scale assessment, but also the more frequent use of longitudinal and multivariate approaches to measurement in psychological, educational, and sociological research, caused an increased demand for psychometrically sound short scales. Shortening scales economizes on valuable administration time, but might result in inadequate measures because reducing an item set could: a) change the internal structure of the measure, b) result in poorer reliability and measurement precision, c) deliver measures that cannot effectively discriminate between persons on the intended ability spectrum, and d) reduce test-criterion relations...
2016: PloS One
https://www.readbyqxmd.com/read/27890457/the-role-of-whole-genome-sequencing-wgs-in-antimicrobial-susceptibility-testing-of-bacteria-report-from-the-eucast-subcommittee
#12
REVIEW
Matthew J Ellington, Oskar Ekelund, Frank M Aarestrup, Rafael Canton, Michel Doumith, Christian Giske, Hajo Grundman, Henrik Hasman, Matthew Holden, Katie L Hopkins, Jon Iredell, Gunnar Kahlmeter, Claudio U Köser, Alasdair MacGowan, Dik Mevius, Mike Mulvey, Thierry Naas, Tim Peto, Jean-Marc Rolain, Ørjan Samuelsen, Neil Woodford
Whole genome sequencing (WGS) offers the potential to predict antimicrobial susceptibility from a single assay. The European Committee on Antimicrobial Susceptibility Testing (EUCAST) established a subcommittee to review the current development status of WGS for bacterial antimicrobial susceptibility testing (AST). The published evidence for using WGS as a tool to infer antimicrobial susceptibility accurately is currently either poor or non-existent and the evidence / knowledge base requires significant expansion...
November 23, 2016: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/27889785/overcoming-cost-implications-of-mutational-analysis-in-patients-with-gastrointestinal-stromal-tumors-a-pragmatic-approach
#13
Patrick Schöffski, Agnieszka Wozniak, Oliver Schöffski, Liesbet van Eycken, Maria Debiec-Rychter
BACKGROUND: Genetic analysis of tissue derived from patients with advanced gastrointestinal stromal tumors (GISTs) is not uniformly applied on a national and international level, even though mutational data can provide clinically relevant prognostic and predictive information, especially in patients qualifying for treatment with expensive targeted agents. METHODS: The current article describes the rationale for genetic testing of GIST tissue, looks at financial implications associated with such analysis and speculates on potential cost savings introduced by routine mutational testing and tailored use of tyrosine kinase inhibitors based on genotyping...
2016: Oncology Research and Treatment
https://www.readbyqxmd.com/read/27887921/non-invasive-prenatal-diagnosis-of-thalassemias-using-maternal-plasma-cell-free-dna
#14
REVIEW
Irena Hudecova, Rossa W K Chiu
Non-invasive prenatal testing (NIPT) using maternal plasma cell free DNA has already reshaped the existing prenatal care system for pregnancies screened for common chromosomal aneuploidies. On the other hand, much progress has been made in developing NIPT for monogenic diseases. Thalassemia served as a disease model to develop strategies for NIPT of monogenic traits. One approach focuses on the detection or exclusion of paternally inherited fetal mutations that are absent from the mother's genome. The assessment of maternally inherited mutations in maternal plasma requires the use of highly sensitive DNA quantification techniques...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27881154/targeted-next-generation-sequencing-identifies-novel-notch3-gene-mutations-in-cadasil-diagnostics-patients
#15
Neven Maksemous, Robert A Smith, Larisa M Haupt, Lyn R Griffiths
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, small vessel disease of the brain causing stroke and vascular dementia in adults. CADASIL has previously been shown to be caused by varying mutations in the NOTCH3 gene. The disorder is often misdiagnosed due to its significant clinical heterogeneic manifestation with familial hemiplegic migraine and several ataxia disorders as well as the location of the currently identified causative mutations...
November 24, 2016: Human Genomics
https://www.readbyqxmd.com/read/27879323/issues-and-challenges-in-diagnostic-sequencing-for-inherited-cardiac-conditions
#16
REVIEW
Roddy Walsh, Stuart A Cook
BACKGROUND: Inherited cardiac conditions are a relatively common group of Mendelian diseases associated with ill health and death, often in the young. Research into the genetic causes of these conditions has enabled confirmatory and predictive diagnostic sequencing to become an integral part of the clinical management of inherited cardiomyopathies, arrhythmias, aortopathies, and dyslipidemias. CONTENT: Currently, the principle benefit of clinical genetic testing is the cascade screening of family members of patients with a pathogenic variant, enabling targeted follow up of presymptomatic genotype-positive individuals and discharge of genotype-negative individuals to health...
November 22, 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27871843/considerations-when-using-next-generation-sequencing-for-genetic-diagnosis-of-long-qt-syndrome-in-the-clinical-testing-laboratory
#17
Hyojin Chae, Jiyeon Kim, Gun Dong Lee, Woori Jang, Joonhong Park, Dong Wook Jekarl, Yong Seog Oh, Myungshin Kim, Yonggoo Kim
BACKGROUND: Congenital long-QT syndrome (LQTS) is a potentially lethal cardiac electrophysiologic disorder characterized by QT interval prolongation and T-wave abnormalities. At least 13 LQTS-associated genes have been reported, but the high cost and low throughput of conventional Sanger sequencing has hampered the multi-gene-based LQTS diagnosis in clinical laboratories. METHODS: We developed an NGS (next-generation sequencing)-based targeted gene panel for 13 LQTS genes using the Ion PGM platform, and a cohort of 36 LQTS patients were studied for characterization of analytical performance specifications...
November 18, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27870689/zika-virus-and-diagnostics
#18
Claudia Raja Gabaglia
PURPOSE OF REVIEW: The purpose of this review is to present what is known about the Zika virus (ZIKV) at the time of writing this review. The viral structure and its phylogeny, as well as the limitations of current available techniques used for diagnosis, are discussed. RECENT FINDINGS: Crystallography and cryo-electron microscopy of the whole ZIKV, or a few of its proteins, are confirming its overall antigenic relatedness to other flaviviruses. Sequencing has revealed its dynamic genetic variation and has placed the Western cluster of Zika isolates within the Asian phylogenic tree...
November 18, 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27869203/no-effect-of-natural-transformation-on-the-evolution-of-resistance-to-bacteriophages-in-the-acinetobacter-baylyi-model-system
#19
Amy McLeman, Pawel Sierocinski, Elze Hesse, Angus Buckling, Gabriel Perron, Nils Hülter, Pål Jarle Johnsen, Michiel Vos
The adaptive benefits of natural transformation, the active uptake of free DNA molecules from the environment followed by incorporation of this DNA into the genome, may be the improved response to selection resulting from increased genetic variation. Drawing analogies with sexual reproduction, transformation may be particularly beneficial when selection rapidly fluctuates during coevolution with virulent parasites ('the Red Queen Hypothesis'). Here we test this hypothesis by experimentally evolving the naturally transformable and recombinogenic species Acinetobacter baylyi with a cocktail of lytic phages...
November 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27864758/high-throughput-scoring-of-seed-germination
#20
Wilco Ligterink, Henk W M Hilhorst
High-throughput analysis of seed germination for phenotyping large genetic populations or mutant collections is very labor intensive and would highly benefit from an automated setup. Although very often used, the total germination percentage after a nominated period of time is not very informative as it lacks information about start, rate, and uniformity of germination, which are highly indicative of such traits as dormancy, stress tolerance, and seed longevity. The calculation of cumulative germination curves requires information about germination percentage at various time points...
2017: Methods in Molecular Biology
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