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https://www.readbyqxmd.com/read/29785639/development-of-a-molecular-diagnostic-test-for-retinitis-pigmentosa-in-the-japanese-population
#1
Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yuki Arai, Ryutaro Akiba, Akira Inaba, Seiji Takagi, Ryoji Fujiki, Yasuhiko Hirami, Yasuo Kurimoto, Osamu Ohara, Masayo Takahashi
PURPOSE: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population. STUDY DESIGN: Evaluation of diagnostic technology, Prospective, Clinical and experimental study...
May 21, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29782485/evaluation-and-application-of-summary-statistic-imputation-to-discover-new-height-associated-loci
#2
Sina Rüeger, Aaron McDaid, Zoltán Kutalik
As most of the heritability of complex traits is attributed to common and low frequency genetic variants, imputing them by combining genotyping chips and large sequenced reference panels is the most cost-effective approach to discover the genetic basis of these traits. Association summary statistics from genome-wide meta-analyses are available for hundreds of traits. Updating these to ever-increasing reference panels is very cumbersome as it requires reimputation of the genetic data, rerunning the association scan, and meta-analysing the results...
May 21, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29779145/comprehensive-genetic-testing-for-female-and-male-infertility-using-next-generation-sequencing
#3
Bonny Patel, Sasha Parets, Matthew Akana, Gregory Kellogg, Michael Jansen, Chihyu Chang, Ying Cai, Rebecca Fox, Mohammad Niknazar, Roman Shraga, Colby Hunter, Andrew Pollock, Robert Wisotzkey, Malgorzata Jaremko, Alex Bisignano, Oscar Puig
PURPOSE: To develop a comprehensive genetic test for female and male infertility in support of medical decisions during assisted reproductive technology (ART) protocols. METHODS: We developed a next-generation sequencing (NGS) gene panel consisting of 87 genes including promoters, 5' and 3' untranslated regions, exons, and selected introns. In addition, sex chromosome aneuploidies and Y chromosome microdeletions were analyzed concomitantly using the same panel. RESULTS: The NGS panel was analytically validated by retrospective analysis of 118 genomic DNA samples with known variants in loci representative of female and male infertility...
May 19, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29778799/physiological-vagility-affects-population-genetic-structure-and-dispersal-and-enables-migratory-capacity-in-vertebrates
#4
Thomas V Hancock, Michael S Hedrick
Vagility is defined as the relative capacity for movement. We developed previously a quantitative metric in vertebrates for physiological vagility (PV), the speed at which an animal can move sustainably, incorporating aerobic capacity, body size, body temperature, and transport costs, allowing quantitative tests of whether PV can explain variation in interclass population genetic structure and behaviors involved in dispersal. We found that PV increased with body mass, correlated with maximal dispersal distances, and was inversely related to genetic structure in multiple vertebrate groups...
May 17, 2018: Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology
https://www.readbyqxmd.com/read/29777376/comprehensive-molecular-diagnosis-of-epstein-barr-virus-associated-lymphoproliferative-diseases-using-next-generation-sequencing
#5
Shintaro Ono, Manabu Nakayama, Hirokazu Kanegane, Akihiro Hoshino, Saeko Shimodera, Hirofumi Shibata, Hisanori Fujino, Takahiro Fujino, Yuta Yunomae, Tsubasa Okano, Motoi Yamashita, Takahiro Yasumi, Kazushi Izawa, Masatoshi Takagi, Kohsuke Imai, Kejian Zhang, Rebecca Marsh, Capucine Picard, Sylvain Latour, Osamu Ohara, Tomohiro Morio
Epstein-Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodeficiency diseases (PIDs) including X-linked lymphoproliferative syndrome (XLP), are characterized by susceptibility and vulnerability to EBV infection. The number of genetically defined PIDs is rapidly increasing, and clinical genetic testing plays an important role in establishing a definitive diagnosis. Whole-exome sequencing is performed for diagnosing rare genetic diseases, but is both expensive and time-consuming...
May 18, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29765138/does-genomic-sequencing-early-in-the-diagnostic-trajectory-make-a-difference-a-follow-up-study-of-clinical-outcomes-and-cost-effectiveness
#6
Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White
PURPOSE: To systematically investigate the longer-term clinical and health economic impacts of genomic sequencing for rare-disease diagnoses. METHODS: We collected information on continuing diagnostic investigation, changes in management, cascade testing, and parental reproductive outcomes in 80 infants who underwent singleton whole-exome sequencing (WES). RESULTS: The median duration of follow-up following result disclosure was 473 days. Changes in clinical management due to diagnostic WES results led to a cost saving of AU$1,578 per quality-adjusted life year gained, without increased hospital service use...
May 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#7
Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R Behr, Sanjay Sharma
Background -T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. Methods -We investigated 50 consecutive asymptomatic black and 50 white athletes aged 14-35-years-old with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology...
May 15, 2018: Circulation
https://www.readbyqxmd.com/read/29760947/incorporating-epilepsy-genetics-into-clinical-practice-a-360%C3%A2-evaluation
#8
Stephanie Oates, Shan Tang, Richard Rosch, Rosalie Lear, Elaine F Hughes, Ruth E Williams, Line H G Larsen, Qin Hao, Hans Atli Dahl, Rikke S Møller, Deb K Pal
We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Patients with epilepsy of unknown aetiology onset < 2 years; treatment resistant epilepsy; or familial epilepsy were referred for counseling and testing. We developed NGS panels, performing clinical interpretation with a multidisciplinary team...
2018: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29755524/a-clinical-roadmap-to-investigate-the-genetic-basis-of-pediatric-pheochromocytoma-which-genes-should-physicians-think-about
#9
REVIEW
Bernardo Dias Pereira, Tiago Nunes da Silva, Ana Teresa Bernardo, Rui César, Henrique Vara Luiz, Karel Pacak, Luísa Mota-Vieira
Pheochromocytoma is very rare at a pediatric age, and when it is present, the probability of a causative genetic mutation is high. Due to high costs of genetic surveys and an increasing number of genes associated with pheochromocytoma, a sequential genetic analysis driven by clinical and biochemical phenotypes is advised. The published literature regarding the genetic landscape of pediatric pheochromocytoma is scarce, which may hinder the establishment of genotype-phenotype correlations and the selection of appropriate genetic testing at this population...
2018: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29750358/a-population-based-cost-effectiveness-study-of-early-genetic-testing-in-severe-epilepsies-of-infancy
#10
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford, Ingrid E Scheffer, A Simon Harvey
OBJECTIVE: The severe epilepsies of infancy (SEI) are a devastating group of disorders that pose a major care and economic burden on society; early diagnosis is critical for optimal management. This study sought to determine the incidence and etiologies of SEI, and model the yield and cost-effectiveness of early genetic testing. METHODS: A population-based study was undertaken of the incidence, etiologies, and cost-effectiveness of a whole exome sequencing-based gene panel (targeted WES) in infants with SEI born during 2011-2013, identified through electroencephalography (EEG) and neonatal databases...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29749250/development-and-characterization-of-human-cerebral-organoids-an-optimized-protocol
#11
Abraam M Yakoub, Mark Sadek
Studies of human neurodevelopmental disorders and stem cell-based regenerative transplants have been hampered by the lack of a model of the developing human brain. Stem cell-derived neurons suffer major limitations, including the ability to recapitulate the 3-dimensional architecture of a brain tissue and the representation of multiple layers and cell types that contribute to the overall brain functions in vivo. Recently, cerebral organoid technology was introduced; however, such technology is still in its infancy, and its low reproducibility and limitations significantly reduce the reliability of such a model as it currently exists, especially considering the complexity of cerebral-organoid protocols...
January 1, 2018: Cell Transplantation
https://www.readbyqxmd.com/read/29744709/cryopreservation-without-vitrification-suitable-for-large-scale-cryopreservation-of-orchid-seeds
#12
Emily Schofield, Edward P Jones, Viswambharan Sarasan
BACKGROUND: Orchids are under threat from human activities and climate change, with populations limited to small geographic hotspots. This makes them ideal candidates for ex situ conservation. Orchid seeds are desiccation tolerant, but often have poor longevity in seed banks and cryopreservation of orchid protocorms is complex and expensive. Therefore, simple methods for large-scale storage programs are essential to store orchid seeds of different life forms. Seeds of five species representing epiphytic, lithophytic and terrestrial orchids from the Central Highlands of Madagascar were studied to find a simple and effective system of cryopreservation...
May 9, 2018: Botanical Studies (Taipei, Taiwan)
https://www.readbyqxmd.com/read/29738245/enzyme-responsive-charge-reversal-polymer-mediated-effective-gene-therapy-for-intraperitoneal-tumors
#13
Nasha Qiu, Jianqing Gao, Qi Liu, Jinqiang Wang, Youqing Shen
Gene therapy has demonstrated effectiveness in many genetic diseases as evidenced by recent clinical applications. Viral vectors have been extensively tested in clinical gene-therapy trials, but nonviral vectors such as cationic polymers or lipids are much less used due to their lower gene-transfection efficiencies. However, the advantages of nonviral vectors, such as easily tailored structures, nonimmunogenetics, and relatively low cost, still drive great efforts to improve their transfection efficiencies...
May 8, 2018: Biomacromolecules
https://www.readbyqxmd.com/read/29735903/pharmaceutical-machine-learning-virtual-high-throughput-screens-identifying-promising-and-economical-small-molecule-inhibitors-of-complement-factor-c1s
#14
Jonathan J Chen, Lyndsey N Schmucker, Donald P Visco
When excessively activated, C1 is insufficiently regulated, which results in tissue damage. Such tissue damage causes the complement system to become further activated to remove the resulting tissue damage, and a vicious cycle of activation/tissue damage occurs. Current Food and Drug Administration approved treatments include supplemental recombinant C1 inhibitor, but these are extremely costly and a more economical solution is desired. In our work, we have utilized an existing data set of 136 compounds that have been previously tested for activity against C1...
May 7, 2018: Biomolecules
https://www.readbyqxmd.com/read/29734486/pharmacogenetic-testing-among-patients-with-mood-and-anxiety-disorders-is-associated-with-decreased-utilization-and-cost-a-propensity-score-matched-study
#15
Roy H Perlis, Rajesh Mehta, Alison M Edwards, Arun Tiwari, Guido W Imbens
BACKGROUND: Naturalistic and small randomized trials have suggested that pharmacogenetic testing may improve treatment outcomes in depression, but its cost-effectiveness is not known. There is growing enthusiasm for personalized medicine, relying on genetic variation as a contributor to heterogeneity of treatment effects. We sought to examine the relationship between a commercial pharmacogenetic test for psychotropic medications and 6-month cost of care and utilization in a large commercial health plan...
May 7, 2018: Depression and Anxiety
https://www.readbyqxmd.com/read/29734442/cryopreservation-of-arecanut-areca-catechu-l-pollen
#16
A Karun, K K Sajini, K S Muralikrishna, M K Rajesh, F Engelmann
BACKGROUND: Cryopreservation opens new avenues in the field of genetic resource conservation, especially in recalcitrant seeded palms such as arecanut for which field genebanks are exposed to pest and disease attacks and natural calamities. It is only through cryopreservation that the safety of the conserved germplasm can be assured at a relatively low cost for extended periods. OBJECTIVE: The objective of this work was to standardize various aspects of arecanut pollen cryopreservation, viz...
November 2017: Cryo Letters
https://www.readbyqxmd.com/read/29733721/precision-medicine
#17
(no author information available yet)
Every human being has twenty-three chromosomes and thousands of genes. Precision medicine aims to assess risk and customize treatment for specific genetic variants and disease characteristics associated with these human building blocks. Large databases of genetic information are needed to locate the best targets for specific therapies. This month's DataGraphic focuses on precision medicine's rapid growth in the past two decades in genetic tests and therapies and its successes in prolonging life and cutting some costs...
May 2018: Health Affairs
https://www.readbyqxmd.com/read/29731658/budget-impact-model-for-oncopharmacogenetics-from-the-perspective-of-mandatory-basic-health-insurance-in-switzerland-using-the-example-of-breast-cancer
#18
Thomas D Szucs, Kevin P Szillat, Eva Blozik
Single-nucleotide polymorphisms (SNPs) can severely impact individual drug response and health outcomes in cancer patients. Genetic tests to screen for marker SNPs are available to adjust the drug dose of oncologicals to the patient's needs. However, it is unclear whether the positive effects outbalance the increased costs or even lead to an overall cost reduction. This very pragmatic analysis used three frequently used oncologicals for the treatment of breast cancer to evaluate whether preemptive pharmacogenetic testing may have a cost-reducing impact on health care spending in the Swiss health care system...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29731357/a-low-cost-and-simple-genetic-screening-for-cystic-fibrosis-provided-by-the-brazilian-public-health-system
#19
Thaiane Rispoli, Simone Martins de Castro, Tarciana Grandi, Mayara Prado, Letícia Filippon, Cláudia Maria Dornelles da Silva, José Eduardo Vargas, Lucia Maria Rosa Rossetti
Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.
May 3, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29730979/economic-impact-of-olaparib-on-maintenance-treatment-of-patients-with-brca-mutation-positive-platinum-sensitive-relapsing-high-grade-serous-epithelial-ovarian-cancer-in-spain
#20
Laura Delgado-Ortega, Jordi Ginés Rubió, Maria Del Carmen Garcías de España, David Carcedo, Luis Cordero Puentes, Carlota Moya de Alarcón
OBJECTIVE: To estimate the economic impact of the introduction of olaparib in  the Spanish National Health System as maintenance monotherapy in patients  with BRCA-mutation positive high-grade serous ovarian cancer. METHOD: A budget impact model was developed from the Spanish NHS perspective and a time horizon of 5 years for four treatment lines. The model included prevalent and incident patients estimated according to Spanish epidemiological data. Patients moved between treatment lines according to the progression-free survival and overall survival curves  obtained from the respective clinical trials...
May 1, 2018: Farmacia Hospitalaria
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