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https://www.readbyqxmd.com/read/28806064/conditional-displacement-hybridization-assay-for-multiple-snp-phasing
#1
Tsz Wing Fan, Henson L Lee Yu, I-Ming Hsing
The two chromosomal copies of the human genome are highly polymorphic, and the allelic content on each strand can dictate a person's biological outcomes. While many of the current diagnostic tools are able to detect the presence of multiple mutations at the same time, most cannot determine the phase of these mutations unless long-range PCR or sequencing techniques are used or if templates are compartmentalized into single copies prior to amplification. Here, an enzyme-coupled hybridization assay, named Conditional Displacement Hybridization Assay (CDHA), is described for the concurrent and rapid determination of the presence and phase of SNP variants...
August 14, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28795204/-entitlement-to-prophylactic-treatment-in-cases-of-genetic-predisposition-for-breast-cancer-interdisciplinary-perspectives
#2
REVIEW
Friedhelm Meier, Jens Ried, Anke Harney, Kerstin Rhiem, Silke Neusser, Anja Neumann, Jürgen Wasem, Rita Schmutzler, Stefan Huster, Peter Dabrock
Genetic tests can detect the predisposition to various diseases. The demand for gene diagnostics and corresponding prophylactic measures is increasing steadily. In the German healthcare system, however, legal uncertainties exist as to whether a mere risk of disease is reason enough to bear the costs for prophylactic measures. When medically effective prophylactic measures are available in certain cancer diseases, such as in hereditary breast cancer, the current practice of deciding in individual cases appears to be insufficient...
August 9, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28791035/development-of-a-traceability-system-based-on-a-snp-array-for-large-scale-production-of-high-value-white-spruce-picea-glauca
#3
Julie Godbout, Laurence Tremblay, Caroline Levasseur, Patricia Lavigne, André Rainville, John Mackay, Jean Bousquet, Nathalie Isabel
Biological material is at the forefront of research programs, as well as application fields such as breeding, aquaculture, and reforestation. While sophisticated techniques are used to produce this material, all too often, there is no strict monitoring during the "production" process to ensure that the specific varieties are the expected ones. Confidence rather than evidence is often applied when the time comes to start a new experiment or to deploy selected varieties in the field. During the last decade, genomics research has led to the development of important resources, which have created opportunities for easily developing tools to assess the conformity of the material along the production chains...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28782311/myotonic-dystrophy-type-1-clinical-electrophysiological-and-molecular-characterization-experience-at-tertiary-care-centre
#4
Satish Khadilkar, Kamlesh Jagiasi, Jayendra Yadav, Sushant V Chavan, Girish Soni, Bhagyadhan Patel
OBJECTIVE: Myotonic dystrophy type 1 (DM1) is the most common myotonic disorder. Molecular genetic testing of the Dystrophia Myotonica-Protein Kinase DMPK gene to detect expansion of CTG repeats is confirmatory. TP-PCR (Triplet Primed-Polymerase Chain Reaction) is rapid and effective screening for the CTG repeat expansions in myotonic dystrophy. Indian data regarding clinical and genetic evaluation of DM1 are sparse. MATERIAL AND METHODS: This was a prospective observational study at a tertiary neurology centre...
June 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28782087/germline-brca-mutations-in-asian-patients-with-pancreatic-adenocarcinoma-a-prospective-study-evaluating-risk-category-for-genetic-testing
#5
Kyoungmin Lee, Changhoon Yoo, Kyu-Pyo Kim, Kyoung-Jin Park, Heung-Moon Chang, Tae Won Kim, Jae-Lyun Lee, Woochang Lee, Sang Soo Lee, Do Hyun Park, Tae Jun Song, Dong Wan Seo, Sung Koo Lee, Myung-Hwan Kim, Sang Hyun Shin, Dae Wook Hwang, Ki Byung Song, Jae Hoon Lee, Song Cheol Kim, Baek-Yeol Ryoo
Introduction Germline BRCA mutations may have therapeutic implications as surrogate markers of DNA-damage repair status in pancreatic ductal adenocarcinoma (PDAC). We performed a prospective study to evaluate the efficiency of risk criteria based on personal or family history of breast and ovarian cancer for determining germline BRCA mutations in PDAC patients with Asian ethnicity. Methods Between November 2015 and May 2016, we screened consecutive PDAC patients with locally advanced unresectable or metastatic disease who were referred for systemic chemotherapy...
August 7, 2017: Investigational New Drugs
https://www.readbyqxmd.com/read/28777847/-study-of-a-family-with-epidermolysis-bullosa-simplex-resulting-from-a-novel-mutation-of-krt14-gene
#6
Lanlan Meng, Juan Du, Wen Li, Guangxiu Lu, Yueqiu Tan
OBJECTIVE: To determine the molecular etiology for a Chinese pedigree affected with epidermolysis bullosa simplex (EBS). METHODS: Target region sequencing using a hereditary epidermolysis bullosa capture array combined with Sanger sequencing and bioinformatics analysis were used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online were employed to assess the pathogenicity and conservation of detected mutations. One hundred healthy unrelated individuals were used as controls...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28776688/mosaics-often-outperform-pyramids-insights-from-a-model-comparing-strategies-for-the-deployment-of-plant-resistance-genes-against-viruses-in-agricultural-landscapes
#7
Ramses Djidjou-Demasse, Benoît Moury, Frédéric Fabre
The breakdown of plant virus resistance genes is a major issue in agriculture. We investigated whether a set of resistance genes would last longer when stacked into a single plant cultivar (pyramiding) or when deployed individually in regional mosaics (mosaic strategy). We modeled the genetic and epidemiological processes shaping the demogenetic dynamics of viruses under a multilocus gene-for-gene system, from the plant to landscape scales. The landscape consisted of many fields, was subject to seasonality, and of a reservoir hosting viruses year-round...
August 4, 2017: New Phytologist
https://www.readbyqxmd.com/read/28772103/architecture-function-and-assembly-of-the-mouse-visual-system
#8
Tania A Seabrook, Timothy J Burbridge, Michael C Crair, Andrew D Huberman
Vision is the sense humans rely on most to navigate the world, make decisions, and perform complex tasks. Understanding how humans see thus represents one of the most fundamental and important goals of neuroscience. The use of the mouse as a model for parsing how vision works at a fundamental level started approximately a decade ago, ushered in by the mouse's convenient size, relatively low cost, and, above all, amenability to genetic perturbations. In the course of that effort, a large cadre of new and powerful tools for in vivo labeling, monitoring, and manipulation of neurons were applied to this species...
July 25, 2017: Annual Review of Neuroscience
https://www.readbyqxmd.com/read/28771251/improved-diagnostic-yield-compared-with-targeted-gene-sequencing-panels-suggests-a-role-for-whole-genome-sequencing-as-a-first-tier-genetic-test
#9
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W L Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon D Dell, Priya Dhir, James J Dowling, Elise Heon, Stacy Hewson, Linda Hiraki, Michal Inbar-Feigenberg, Regan Klatt, Jonathan Kronick, Ronald M Laxer, Christoph Licht, Heather MacDonald, Saadet Mercimek-Andrews, Roberto Mendoza-Londono, Tino Piscione, Rayfel Schneider, Andreas Schulze, Earl Silverman, Komudi Siriwardena, O Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J Szego, Robin Z Hayeems, Raveen Basran, Dimitri J Stavropoulos, Peter N Ray, Sarah Bowdin, M Stephen Meyn, Ronald D Cohn, Stephen W Scherer, Christian R Marshall
PurposeGenetic testing is an integral diagnostic component of pediatric medicine. Standard of care is often a time-consuming stepwise approach involving chromosomal microarray analysis and targeted gene sequencing panels, which can be costly and inconclusive. Whole-genome sequencing (WGS) provides a comprehensive testing platform that has the potential to streamline genetic assessments, but there are limited comparative data to guide its clinical use.MethodsWe prospectively recruited 103 patients from pediatric non-genetic subspecialty clinics, each with a clinical phenotype suggestive of an underlying genetic disorder, and compared the diagnostic yield and coverage of WGS with those of conventional genetic testing...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28770690/optimal-mating-strategies-to-manage-a-heterozygous-advantage-major-gene-in-sheep
#10
J Raoul, I Palhière, J M Astruc, A Swan, J M Elsen
Some mutations (or 'major genes') have a desirable effect in heterozygous carriers but an undesirable effect in homozygous carriers. When these mutations affect a trait of significant economic importance, their eradication, depending on their effect and frequency, may be counterproductive. This is especially the case of major genes affecting the ovulation rate and thus the prolificacy in meat sheep populations. To manage such situations, a mating design based on the major genotypes of reproducers has to be optimized...
August 3, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28770087/cryptic-lineage-divergence-in-marine-environments-genetic-differentiation-at-multiple-spatial-and-temporal-scales-in-the-widespread-intertidal-goby-gobiosoma%C3%A2-bosc
#11
Borja Milá, James L Van Tassell, Jatziri A Calderón, Lukas Rüber, Rafael Zardoya
The adaptive radiation of the seven-spined gobies (Gobiidae: Gobiosomatini) represents a classic example of how ecological specialization and larval retention can drive speciation through local adaptation. However, geographically widespread and phenotypically uniform species also do occur within Gobiosomatini. This lack of phenotypic variation across large geographic areas could be due to recent colonization, widespread gene flow, or stabilizing selection acting across environmental gradients. We use a phylogeographic approach to test these alternative hypotheses in the naked goby Gobiosoma bosc, a widespread and phenotypically invariable intertidal fish found along the Atlantic Coast of North America...
July 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28766552/recontacting-in-clinical-practice-the-views-and-expectations-of-patients-in-the-united-kingdom
#12
Daniele Carrieri, Sandi Dheensa, Shane Doheny, Angus J Clarke, Peter D Turnpenny, Anneke M Lucassen, Susan E Kelly
This paper explores the views and expectations of patients concerning recontacting in clinical practice. It is based on 41 semi-structured interviews conducted in the United Kingdom. The sample comprised patients or parents of patients: without a diagnosis; recently offered a test for a condition or carrier risk; with a rare condition; with a variant of unknown significance - some of whom had been recontacted. Participants were recruited both via the National Health Service (NHS) and through online, condition-specific support groups...
August 2, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28764782/pre-and-post-testing-counseling-considerations-for-the-provision-of-expanded-carrier-screening-exploration-of-european-geneticists-views
#13
Sandra Janssens, Davit Chokoshvili, Danya F Vears, Anne De Paepe, Pascal Borry
BACKGROUND: Carrier screening is generally performed with the aim of identifying healthy couples at risk of having a child affected with a monogenic disorder to provide them with reproductive options. Expanded carrier screening (ECS), which provides the opportunity for multiple conditions to be screened in one test, offers a more cost-effective and comprehensive option than screening for single disorders. However, implementation of ECS at a population level would have implications for genetic counseling practice...
August 1, 2017: BMC Medical Ethics
https://www.readbyqxmd.com/read/28764766/physicians-pharmacogenomics-information-needs-and-seeking-behavior-a-study-with-case-vignettes
#14
Bret S E Heale, Aly Khalifa, Bryan L Stone, Scott Nelson, Guilherme Del Fiol
BACKGROUND: Genetic testing, especially in pharmacogenomics, can have a major impact on patient care. However, most physicians do not feel that they have sufficient knowledge to apply pharmacogenomics to patient care. Online information resources can help address this gap. We investigated physicians' pharmacogenomics information needs and information-seeking behavior, in order to guide the design of pharmacogenomics information resources that effectively meet clinical information needs...
August 1, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28762015/using-genomic-information-to-guide-ibrutinib-treatment-decisions-in-chronic-lymphocytic-leukaemia-a-cost-effectiveness-analysis
#15
James Buchanan, Sarah Wordsworth, Ruth Clifford, Pauline Robbe, Jenny C Taylor, Anna Schuh, Samantha J L Knight
BACKGROUND: Genomic tests may improve the stratification of patients to receive new therapies in several disease areas. However, the use of expensive targeted therapies can impact on the cost effectiveness of these tests. This study presents an economic evaluation of genomic testing in chronic lymphocytic leukaemia in the context of the UK National Health Service. METHODS: Cost-effectiveness and cost-utility analyses (using life-years and quality-adjusted life-years) were undertaken from a National Health Service and societal perspective...
July 31, 2017: PharmacoEconomics
https://www.readbyqxmd.com/read/28759686/diagnostic-impact-and-cost-effectiveness-of-whole-exome-sequencing-for-ambulant-children-with-suspected-monogenic-conditions
#16
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J Robertson, Aaron J Robinson, Ivan Macciocca, Simon Sadedin, Katrina Bell, Alicia Oshlack, Peter Georgeson, Natalie Thorne, Clara Gaff, Susan M White
Importance: Optimal use of whole-exome sequencing (WES) in the pediatric setting requires an understanding of who should be considered for testing and when it should be performed to maximize clinical utility and cost-effectiveness. Objectives: To investigate the impact of WES in sequencing-naive children suspected of having a monogenic disorder and evaluate its cost-effectiveness if WES had been available at different time points in their diagnostic trajectory. Design, Setting, and Participants: This prospective study was part of the Melbourne Genomics Health Alliance demonstration project...
July 31, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28758101/brca-population-screening-for-predicting-breast-cancer-for-or-against
#17
Giuseppe Lippi, Camilla Mattiuzzi, Martina Montagnana
The pathogenesis of breast cancer, the most frequent female malignancy, entails both genetic and acquired risk factors. Among the various oncogenetic mutations, those involving the BReast Cancer 1 (BRCA1) and BReast Cancer 2 (BRCA2) genes are associated with an extremely high risk of developing breast cancer, with a penetration approximating 70% in women with a positive family history for this malignancy. This important evidence elicits some pragmatic considerations, such as the clinical effectiveness of screening for the most penetrant BRCA mutations in women with or without a positive familial history, but also raises important issues related to the most appropriate clinical management of these patients...
July 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28757654/predicting-triple-negative-breast-cancer-subtype-using-multiple-single-nucleotide-polymorphisms-for-breast-cancer-risk-and-several-variable-selection-methods
#18
Lothar Häberle, Alexander Hein, Matthias Rübner, Michael Schneider, Arif B Ekici, Paul Gass, Arndt Hartmann, Rüdiger Schulz-Wendtland, Matthias W Beckmann, Wing-Yee Lo, Werner Schroth, Hiltrud Brauch, Peter A Fasching, Marius Wunderle
INTRODUCTION: Studies of triple-negative breast cancer have recently been extending the inclusion criteria and incorporating additional molecular markers into the selection criteria, opening up scope for targeted therapies. The screening phases required for studies of this type are often prolonged, since the process of determining the molecular subtype and carrying out additional biomarker assessment is time-consuming. Parameters such as germline genotypes capable of predicting the molecular subtype before it becomes available from pathology might be helpful for treatment planning and optimizing the timing and cost of screening phases...
June 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28755212/in-vitro-cryopreservation-of-date-palm-caulogenic-meristems
#19
Lotfi Fki, Olfa Chkir, Walid Kriaa, Ameni Nasri, Emna Baklouti, Raja B Masmoudi, Alain Rival, Noureddine Drira, Bart Panis
Cryopreservation is the technology of choice not only for plant genetic resource preservation but also for virus eradication and for the efficient management of large-scale micropropagation. In this chapter, we describe three cryopreservation protocols (standard vitrification, droplet vitrification, and encapsulation vitrification) for date palm highly proliferating meristems that are initiated from vitro-cultures using plant growth regulator-free MS medium. The positive impact of sucrose preculture and cold hardening treatments on survival rates is significant...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28750519/pcr-technologies-for-point-of-care-testing-progress-and-perspectives
#20
Salvatore Petralia, Sabrina Conoci
Since the Human Genome Project completed in 2000, the sequencing of the first genome, massive progress has been made by medical science in the early diagnosis and personalized therapies based on nucleic acids (NA) analysis. To allow the extensive use of these molecular methods in medical practice, scientific research is nowadays strongly focusing on the development of new miniaturized and easy-to-use technologies and devices allowing fast and low cost NA analysis in decentralized environments. It is now the era of so-called genetic "Point-of-Care" (PoC)...
July 28, 2017: ACS Sensors
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