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https://www.readbyqxmd.com/read/29162038/a-qualitative-study-on-singaporean-women-s-views-towards-breast-cancer-screening-and-single-nucleotide-polymorphisms-snps-gene-testing-to-guide-personalised-screening-strategies
#1
Xin Yi Wong, Kok Joon Chong, Janine A van Til, Hwee Lin Wee
BACKGROUND: Breast cancer is the top cancer by incidence and mortality in Singaporean women. Mammography is by far its best screening tool, but current recommended age and interval may not yield the most benefit. Recent studies have demonstrated the potential of single nucleotide polymorphisms (SNPs) to improve discriminatory accuracy of breast cancer risk assessment models. This study was conducted to understand Singaporean women's views towards breast cancer screening and SNPs gene testing to guide personalised screening strategies...
November 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29156571/studies-for-improving-a-rat-model-of-alzheimer-s-disease-icv-administration-of-well-characterized-%C3%AE-amyloid-1-42-oligomers-induce-dysfunction-in-spatial-memory
#2
Ágnes Kasza, Botond Penke, Zsuzsanna Frank, Zsolt Bozsó, Viktor Szegedi, Ákos Hunya, Klaudia Németh, Gábor Kozma, Lívia Fülöp
During the past 15 years, several genetically altered mouse models of human Alzheimer's disease (AD) have been developed. These costly models have greatly facilitated the evaluation of novel therapeutic approaches. Injecting synthetic β-amyloid (Aβ) 1-42 species into different parts of the brain of non-transgenic rodents frequently provided unreliable results, owing to a lack of a genuine characterization of the administered Aβ aggregates. Previously, we have published a new rat AD-model in which protofibrillar-fibrillar Aβ1-42 was administered into rat entorhinal cortex (Sipos 2007)...
November 18, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29154167/genetic-clustering-of-depressed-patients-and-normal-controls-based-on-single-nucleotide-variant-proportion
#3
Chenglong Yu, Bernhard T Baune, Ke-Ang Fu, Ma-Li Wong, Julio Licinio
BACKGROUND: Genetic components play important roles in the susceptibility to major depressive disorder (MDD). The rapid development of sequencing technologies is allowing scientists to contribute new ideas for personalized medicine; thus, it is essential to design non-invasive genetic tests on sequencing data, which can help physicians diagnose and differentiate depressed patients and healthy individuals. METHODS: We have recently proposed a genetic concept involving single-nucleotide variant proportion (SNVP) in genes to study MDD...
November 10, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29152178/the-genetics-of-phenotypic-plasticity-xv-genetic-assimilation-the-baldwin-effect-and-evolutionary-rescue
#4
Samuel M Scheiner, Michael Barfield, Robert D Holt
We used an individual-based simulation model to examine the role of phenotypic plasticity on persistence and adaptation to two patterns of environmental variation, a single, abrupt step change and continual, linear change. Our model tested the assumptions and predictions of the theory of genetic assimilation, explored the evolutionary dynamics of the Baldwin effect, and provided expectations for the evolutionary response to climate change. We found that genetic assimilation as originally postulated is not likely to occur because the replacement of plasticity by fixed genetic effects takes much longer than the environment is likely to remain stable...
November 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29151862/profiling-the-immunome-of-little-brown-myotis-provides-a-yardstick-for-measuring-the-genetic-response-to-white-nose-syndrome
#5
Michael E Donaldson, Christina M Davy, Craig K R Willis, Scott McBurney, Allysia Park, Christopher J Kyle
White-nose syndrome (WNS) has devastated populations of hibernating bats in eastern North America, leading to emergency conservation listings for several species including the previously ubiquitous little brown myotis (Myotis lucifugus). However, some bat populations near the epicenter of the WNS panzootic appear to be stabilizing after initial precipitous declines, which could reflect a selective immunogenetic sweep. To investigate the hypothesis that WNS exerts significant selection on the immunome of affected bat populations, we developed a novel, high-throughput sequence capture assay targeting 138 adaptive, intrinsic, and innate immunity genes of putative adaptive significance, as well as their respective regulatory regions (~370 kbp of genomic sequence/individual)...
December 2017: Evolutionary Applications
https://www.readbyqxmd.com/read/29151150/a-comparison-of-cancer-risk-assessment-and-testing-outcomes-in-patients-from-underserved-vs-tertiary-care-settings
#6
Huma Q Rana, Sarah R Cochrane, Elaine Hiller, Ruth N Akindele, Callie M Nibecker, Ludmila A Svoboda, Angel M Cronin, Judy E Garber, Christopher S Lathan
In cancer genetics, technological advances (next generation sequencing) and the expansion of genetic test options have resulted in lowered costs and increased access to genetic testing. Despite this, the majority of patients utilizing cancer genetics services lack diversity of gender, ethnicity, and socioeconomic status. Through retrospective chart review, we compared outcomes of cancer genetics consultations at a tertiary cancer center and a Federally Qualified Health Center (FQHC) (58 tertiary and 23 FQHC patients) from 2013 to 2015...
November 18, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29150007/crispr-in-animals-and-animal-models
#7
Ellen Shrock, Marc Güell
CRISPR-Cas9 has revolutionized the generation of transgenic animals. This system has demonstrated an unprecedented efficiency, multiplexability, and ease of use, thereby reducing the time and cost required for genome editing and enabling the production of animals with more extensive genetic modifications. It has also been shown to be applicable to a wide variety of animals, from early-branching metazoans to primates. Genome-wide screens in model organisms have been performed, accurate models of human diseases have been constructed, and potential therapies have been tested and validated in animal models...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29149126/pharmacogenomics-principles-and-relevance-to-oncology-nursing%C3%A2
#8
Crystal H Dodson
BACKGROUND: Pharmacogenomics is the fastest growing field in precision medicine. Based on current use, oncology encompasses the largest share of the precision medicine market, necessitating that oncology nurses understand the principles of pharmacogenomics and how it affects clinical practice.
. OBJECTIVES: This article will define precision medicine and pharmacogenomics and will provide examples of pharmacogenomic tests, including those associated with tumor markers, and nursing implications...
December 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29142115/males-harm-females-less-when-competing-with-familiar-relatives
#9
Samuel J Lymbery, Leigh W Simmons
Sexual conflict occurs when reproductive partners have different fitness optima, and can lead to the evolution of traits in one sex that inflict fitness costs on the opposite sex. Recently, it has been proposed that antagonism by males towards females should be reduced when they compete with relatives, because reducing the future productivity of a female would result in an indirect fitness cost for a harmful male. We tested this prediction in the seed beetle Callosobruchus maculatus, the males of which harm females with genital spines and pre-copulatory harassment...
November 29, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/29140977/low-cost-and-open-source-multi-fluorescence-imaging-system-for-teaching-and-research-in-biology-and-bioengineering
#10
Isaac Nuñez, Tamara Matute, Roberto Herrera, Juan Keymer, Timothy Marzullo, Timothy Rudge, Fernán Federici
The advent of easy-to-use open source microcontrollers, off-the-shelf electronics and customizable manufacturing technologies has facilitated the development of inexpensive scientific devices and laboratory equipment. In this study, we describe an imaging system that integrates low-cost and open-source hardware, software and genetic resources. The multi-fluorescence imaging system consists of readily available 470 nm LEDs, a Raspberry Pi camera and a set of filters made with low cost acrylics. This device allows imaging in scales ranging from single colonies to entire plates...
2017: PloS One
https://www.readbyqxmd.com/read/29139377/laboratory-colonization-and-mass-rearing-of-phlebotomine-sand-flies-diptera-psychodidae
#11
Jérôme Depaquit, Bernard Pesson, Denis Augot, James Gordon Campbell Hamilton, Phillip Lawyer, Nicole Léger, Phillip Lawyer, Mireille Killick-Kendrick, Tobin Rowland, Edgar Rowton, Petr Volf
Laboratory colonies of phlebotomine sand flies are necessary for experimental study of their biology, behaviour and mutual relations with disease agents and for testing new methods of vector control. They are indispensable in genetic studies and controlled observations on the physiology and behaviour of sand flies, neglected subjects of high priority. Colonies are of particular value for screening insecticides. Colonized sand flies are used as live vector models in a diverse array of research projects, including xenodiagnosis, that are directed toward control of leishmaniasis and other sand fly-associated diseases...
2017: Parasite: Journal de la Société Française de Parasitologie
https://www.readbyqxmd.com/read/29137673/a-cheap-and-open-hiv-viral-load-technique-applicable-in-routine-analysis-in-a-resource-limited-setting-with-a-wide-hiv-genetic-diversity
#12
Elodie Téclaire Ngo-Malabo, Paul Alain Ngoupo T, Martin Zekeng, Valérie Ngono, Laure Ngono, Serge Alain Sadeuh-Mba, Richard Njouom, Anfumbom Kfutwah
BACKGROUND: HIV infection in Cameroon is characterized by a great viral diversity with all HIV-1 groups (M, N, O, and P) and HIV-2 in circulation. HIV group determination is very important if tailored viral load analysis and treatments are to be applied. In our laboratory, HIV viral load is carried out using two platforms; Biocentric and Abbott depending on the HIV group identified. Biocentric which quantifies HIV-1 group M is a cheap and open system useful in resource limited settings...
November 14, 2017: Virology Journal
https://www.readbyqxmd.com/read/29135578/when-prevention-of-mother-to-child-hiv-transmission-fails-preventing-pretreatment-drug-resistance-in-african-children
#13
Seth C Inzaule, Raph L Hamers, Job Calis, Ragna Boerma, Kim Sigaloff, Clement Zeh, Peter Mugyenyi, Sulaimon Akanmu, Tobias F Rinke de Wit
: The scale-up of antiretroviral prophylaxis to prevent mother-to-child transmission of HIV has significantly reduced new pediatric infections in sub-Saharan Africa. However, among infants who become HIV-infected despite prevent mother-to-child transmission, more than 50% have drug-resistant HIV. Given high levels of resistance, WHO recommends the use of protease inhibitors as part of first-line pediatric antiretroviral therapy (ART) to optimize treatment response, but costs and logistic challenges restrict access...
November 10, 2017: AIDS
https://www.readbyqxmd.com/read/29134631/microbial-expansion-collision-dynamics-promote-cooperation-and-coexistence-on-surfaces
#14
Shuang Xu, J David Van Dyken
Microbes colonizing a surface often experience colony growth dynamics characterized by an initial phase of spatial clonal expansion followed by collision between neighboring colonies to form potentially genetically heterogeneous boundaries. For species with life cycles consisting of repeated surface colonization and dispersal, these spatially-explicit "expansion-collision dynamics" generate periodic transitions between two distinct selective regimes, "expansion competition" and "boundary competition", each one favoring a different growth strategy...
November 14, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/29132555/considerations-in-testing-for-inherited-breast-cancer-predisposition-in-the-era-of-personalized-medicine
#15
REVIEW
Benjamin Powers, Tuya Pal, Christine Laronga
Technological advances realized through next-generation sequencing technologies coupled with the loss of the ability to patent genes have led to reduction in costs for genetic testing. As a result, more people are being identified with inherited breast cancer syndromes that may affect recommendations for surveillance and risk reduction. Surgeons, at the forefront for patients newly diagnosed with breast cancer, must keep current with the changing landscape of genetics to continue to provide appropriate counsel and care...
January 2018: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/29131714/understanding-variations-in-secondary-findings-reporting-practices-across-u-s-genome-sequencing-laboratories
#16
Sara Ackerman, Barbara Koenig
BACKGROUND: Increasingly used for clinical purposes, genome and exome sequencing can generate clinically relevant information that is not directly related to the reason for testing (incidental or secondary findings). Debates about the ethical implications of secondary findings were sparked by the American College of Medical Genetics (ACMG)'s 2013 policy statement, which recommended that laboratories report pathogenic alterations in 56 genes. Although wide variation in laboratories' secondary findings policies has been reported, little is known about its causes...
November 13, 2017: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/29130948/mapping-genomic-scaffolds-to-chromosomes-using-laser-capture-microdissection-in-application-to-hawaiian-picture-winged-drosophila
#17
Lin Kang, Phillip George, Donald K Price, Igor Sharakhov, Pawel Michalak
Next-generation sequencing technologies have led to a decreased cost and an increased throughput in genome sequencing. Yet, many genome assemblies based on short sequencing reads have been assembled only to the scaffold level due to the lack of sufficient chromosome mapping information. Traditional ways of mapping scaffolds to chromosomes require a large amount of laboratory work and time to generate genetic and/or physical maps. To address this problem, we conducted a rapid technique which uses laser capture microdissection and enables mapping scaffolds of de novo genome assemblies directly to chromosomes in Hawaiian picture-winged Drosophila...
November 8, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29128178/cost-effectiveness-of-lobectomy-versus-genetic-testing-afirma%C3%A2-for-indeterminate-thyroid-nodules-considering-the-costs-of-surveillance
#18
Courtney J Balentine, David J Vanness, David F Schneider
BACKGROUND: We evaluated whether diagnostic thyroidectomy for indeterminate thyroid nodules would be more cost-effective than genetic testing after including the costs of long-term surveillance. METHODS: We used a Markov decision model to estimate the cost-effectiveness of thyroid lobectomy versus genetic testing (Afirma®) for evaluation of indeterminate (Bethesda 3-4) thyroid nodules. The base case was a 40-year-old woman with a 1-cm indeterminate nodule. Probabilities and estimates of utilities were obtained from the literature...
November 8, 2017: Surgery
https://www.readbyqxmd.com/read/29126427/a-murine-model-for-developmental-dysplasia-of-the-hip-ablation-of-cx3cr1-affects-acetabular-morphology-and-gait
#19
George Feldman, Arlene Offemaria, Hind Sawan, Javad Parvizi, Theresa A Freeman
BACKGROUND: Developmental dysplasia of the hip (DDH) is a debilitating condition whose distinguishing signs include incomplete formation of the acetabulum leading to dislocation of the femur, accelerated wear of the articular cartilage and joint laxity resulting in osteoarthritis. It is a complex disorder having environmental and genetic causes. Existing techniques fail to detect milder forms of DDH in newborns leading to hip osteoarthritis in young adults. A sensitive, specific and cost effective test would allow identification of newborns that could be non-invasively corrected by the use of a Pavlik harness...
November 10, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#20
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
OBJECTIVE: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
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