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Costs genetic testing

Sarah E Chadwell, Hua He, Sara Knapke, Jaime Lewis, Rebecca Sisson, Jennifer Hopper
Genetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of the BRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned...
March 17, 2018: Journal of Genetic Counseling
Arthur Bob Karnuah, Gregory Dunga, Arthur Wennah, Walter T Wiles, Edmond Greaves, Roland Varkpeh, Richard Osei-Amponsah, Paul Boettcher
Phenotypic characterization of animal genetic resources (AnGR) involves identification of distinct breed populations, describing their external and production characteristics in a given environment and management, and taking into account the social and economic factors that affect them. A survey involving 346 livestock farmers was conducted in the 15 counties of Liberia to collect data on production practices and phenotypic characteristics of beef cattle. A pre-tested structured questionnaire, focus group discussions, and in-depth interviews were utilized in data collection...
March 15, 2018: Tropical Animal Health and Production
Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez, Justine E Marum, Matthew Hunter, Anna Jarmolowicz, Yael Prawer, Jessica R Riseley, Matthew Regan, Justine Elliott, Melissa Martyn, Stephanie Best, Tiong Y Tan, Clara L Gaff, Susan M White
PurposeThe purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers.MethodsRapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients with suspected monogenic disorders. Laboratory and clinical barriers to implementation were addressed through continuous multidisciplinary review of process parameters. Diagnostic and clinical utility and cost-effectiveness of rWES were assessed.ResultsOf 40 enrolled patients, 21 (52...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Dafina Ilijazi, Mohammad Abufaraj, Melanie R Hassler, Iris E Ertl, David D'Andrea, Shahrokh F Shariat
Bladder cancer (BCa) is the fifth most frequently diagnosed cancer worldwide and is, in fact, the most expensive cancer on a per-patient to treat basis. There is a critical need to implement new tests into clinical practice to improve the quality of clinical care, decrease unnecessary invasive therapies and ultimately save costs. Currently, no molecular or genetic biomarker has been widely integrated into daily clinical practice. However, major milestones have been achieved in our understanding of the molecular alterations in BCa that will provide the basis for integrating molecular and genetic biomarkers into clinical decision making to guide management...
March 15, 2018: Expert Review of Molecular Diagnostics
Hiroshi Maeda, Mahin Khatami
For over six decades reductionist approaches to cancer chemotherapies including recent immunotherapy for solid tumors produced outcome failure-rates of 90% (±5) according to governmental agencies and industry. Despite tremendous public and private funding and initial enthusiasm about missile-therapy for site-specific cancers, molecular targeting drugs for specific enzymes such as kinases or inhibitors of growth factor receptors, the outcomes are very bleak and disappointing. Major scientific reasons for repeated failures of such therapeutic approaches are attributed to reductionist approaches to research and infinite numbers of genetic mutations in chaotic molecular environment of solid tumors that are bases of drug development...
March 1, 2018: Clinical and Translational Medicine
F Popescu, C R Jaslow, W H Kutteh
STUDY QUESTION: Will the addition of 24-chromosome microarray analysis on miscarriage tissue combined with the standard American Society for Reproductive Medicine (ASRM) evaluation for recurrent miscarriage explain most losses? SUMMARY ANSWER: Over 90% of patients with recurrent pregnancy loss (RPL) will have a probable or definitive cause identified when combining genetic testing on miscarriage tissue with the standard ASRM evaluation for recurrent miscarriage...
March 12, 2018: Human Reproduction
Hitesh Shukla, Jessica Louise Mason, Abdullah Sabyah
Pharmacogenetics is an emerging area of medicine, and more work is needed to fully integrate it into a clinical setting for the benefit of patients. Genetic markers can influence the action of many drugs, including those that prevent and treat cardiovascular conditions. Genotyping is not yet commonplace, but guidelines are being put in place to help practitioners determine the effect a genetic marker may have on certain drugs. With advancements in genetic technology and falling costs, genotyping could be available to all patients via a simple saliva test...
March 13, 2018: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
Niloofar Yousefi Moteghaed, Keivan Maghooli, Masoud Garshasbi
Background: Gene expression data are characteristically high dimensional with a small sample size in contrast to the feature size and variability inherent in biological processes that contribute to difficulties in analysis. Selection of highly discriminative features decreases the computational cost and complexity of the classifier and improves its reliability for prediction of a new class of samples. Methods: The present study used hybrid particle swarm optimization and genetic algorithms for gene selection and a fuzzy support vector machine (SVM) as the classifier...
January 2018: Journal of Medical Signals and Sensors
Tamás Müller, Hajime Matsubara, Yuki Kubara, Ákos Horváth, Balázs Kolics, János Taller, Viktor Stéger, Balázs Kovács, László Horváth, Juan F Asturiano, David S Peñaranda, Béla Urbányi
The objective of this study was to assess impact of cryopreserved European eel sperm and Japanese eel native sperm on early fertilization, hatch, survival, and malformation rates of larvae, as well as develop molecular techniques to distinguish different eel species. Eggs from Japanese eel females (Anguilla japonica) were artificially fertilized with sperm of Japanese eel males and cryopreserved sperm from European eel (A. anguilla, extender was modified Tanaka solution and methanol as cryoprotectant). There were no statistical differences (p > 0...
March 2, 2018: Theriogenology
Anna Bartoletti-Stella, Simone Baiardi, Michelangelo Stanzani-Maserati, Silvia Piras, Paolo Caffarra, Alberto Raggi, Roberta Pantieri, Sara Baldassari, Leonardo Caporali, Samir Abu-Rumeileh, Simona Linarello, Rocco Liguori, Piero Parchi, Sabina Capellari
Genetics is intricately involved in the etiology of neurodegenerative dementias. The incidence of monogenic dementia among all neurodegenerative forms is unknown due to the lack of systematic studies and of patient/clinician access to extensive diagnostic procedures. In this study, we conducted targeted sequencing in 246 clinically heterogeneous patients, mainly with early-onset and/or familial neurodegenerative dementia, using a custom-designed next-generation sequencing panel covering 27 genes known to harbor mutations that can cause different types of dementia, in addition to the detection of C9orf72 repeat expansions...
February 13, 2018: Neurobiology of Aging
Merit Lamp, Paola Origone, Alessandro Geroldi, Simonetta Verdiani, Fabio Gotta, Claudia Caponnetto, Grazia Devigili, Lorenzo Verriello, Carlo Scialò, Corrado Cabona, Antonio Canosa, Irene Vanni, Emilia Bellone, Roberto Eleopra, Paola Mandich
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a heterogeneous genetic background. Because mutation analysis by Sanger sequencing is costly and time-consuming, in recent years, next-generation sequencing (NGS) techniques have become of much interest. This study analyses the results of 20 years of molecular analyses in ALS patients in our laboratory using traditional methods and NGS. Almost 300 ALS patients underwent genetic analysis with Sanger sequencing of 7 genes or with an NGS panel of 23 genes...
February 1, 2018: Neurobiology of Aging
Takahiro Otani, Hisashi Noma, Jo Nishino, Shigeyuki Matsui
Although enormous costs have been dedicated to discovering relevant disease-related genetic variants, especially in genome-wide association studies (GWASs), only a small fraction of estimated heritability can be explained by these results. This is the so-called missing heritability problem. The conventional use of overly conservative multiple testing strategies based on controlling the familywise error rate (FWER), in particular with a genome-wide significance threshold of P <5 × 10-8 , is one of the most important issues from a statistical perspective...
March 9, 2018: European Journal of Human Genetics: EJHG
Raúl J Cano, Gary A Toranzos
Microbiome analysis of environmental samples may represent the next frontier in environmental microbial forensics. Next-generation sequencing technologies significantly increased the available genetic data that could be used as evidentiary material. It is not clear, however, whether the microbiome can scale across institutions using forensic-based evidence due to the data resource requirements and the associated costs of maintaining these databases. A successful microbiome study is impacted by the quality of the information gathered and the steps in sample processing and data analysis...
March 2018: Microbiology Spectrum
Johanna C Herkert, Kristin M Abbott, Erwin Birnie, Martine T Meems-Veldhuis, Ludolf G Boven, Marloes Benjamins, Gideon J du Marchie Sarvaas, Daniela Q C M Barge-Schaapveld, J Peter van Tintelen, Paul A van der Zwaag, Yvonne J Vos, Richard J Sinke, Maarten P van den Berg, Irene M van Langen, Jan D H Jongbloed
PurposeWe evaluated the diagnostic yield in pediatric dilated cardiomyopathy (DCM) of combining exome sequencing (ES)-based targeted analysis and genome-wide copy-number variation (CNV) analysis. Based on our findings, we retrospectively designed an effective approach for genetic testing in pediatric DCM.MethodsWe identified 95 patients (in 85 families) with pediatric onset of DCM. We initially excluded 13 of these families because they already had a genetic diagnosis, leaving a total of 31 probands for single-nucleotide polymorphism (SNP) array and trio-ES...
March 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Stephanie E Wallace, Thomas D Bird
Purpose of review: Because of extensive clinical overlap among many forms of hereditary ataxia, molecular genetic testing is often required to establish a diagnosis. Interrogation of multiple genes has become a popular diagnostic approach as the cost of sequence analysis has decreased and the number of genes associated with overlapping phenotypes has increased. We describe the benefits and limitations of molecular genetic tests commonly used to determine the etiology of hereditary ataxia...
February 2018: Neurology. Clinical Practice
Filippo Baldacci, Simone Lista, Sid E O'Bryant, Roberto Ceravolo, Nicola Toschi, Harald Hampel
The discovery, development, and validation of novel candidate biomarkers in Alzheimer's disease (AD) and other neurodegenerative diseases (NDs) are increasingly gaining momentum. As a result, evolving diagnostic research criteria of NDs are beginning to integrate biofluid and neuroimaging indicators of pathophysiological mechanisms. More than 10% of people aged over 65 suffer from NDs. There is an urgent need for a refined two-stage diagnostic model to first initiate an early, sensitive, and noninvasive process in primary care settings...
2018: Methods in Molecular Biology
Xudong Chen, Zhongwen Xu, Liming Yao, Ning Ma
This study considers the two factors of environmental protection and economic benefits to address municipal sewage treatment. Based on considerations regarding the sewage treatment plant construction site, processing technology, capital investment, operation costs, water pollutant emissions, water quality and other indicators, we establish a general multi-objective decision model for optimizing municipal sewage treatment plant construction. Using the construction of a sewage treatment plant in a suburb of Chengdu as an example, this paper tests the general model of multi-objective decision-making for the sewage treatment plant construction by implementing a genetic algorithm...
March 5, 2018: International Journal of Environmental Research and Public Health
Francois Laurens, Maria José Aranzana, Pere Arus, Daniele Bassi, Marco Bink, Joan Bonany, Andrea Caprera, Luca Corelli-Grappadelli, Evelyne Costes, Charles-Eric Durel, Jehan-Baptiste Mauroux, Hélène Muranty, Nelson Nazzicari, Thierry Pascal, Andrea Patocchi, Andreas Peil, Bénédicte Quilot-Turion, Laura Rossini, Alessandra Stella, Michela Troggio, Riccardo Velasco, Eric van de Weg
Despite the availability of whole genome sequences of apple and peach, there has been a considerable gap between genomics and breeding. To bridge the gap, the European Union funded the FruitBreedomics project (March 2011 to August 2015) involving 28 research institutes and private companies. Three complementary approaches were pursued: (i) tool and software development, (ii) deciphering genetic control of main horticultural traits taking into account allelic diversity and (iii) developing plant materials, tools and methodologies for breeders...
2018: Horticulture Research
Danielle Braun, Jiabei Yang, Molly Griffin, Giovanni Parmigiani, Kevin S Hughes
The rapid drop in the cost of DNA sequencing led to the availability of multi-gene panels, which test 25 or more cancer susceptibility genes for a low cost. Clinicians and genetic counselors need a tool to interpret results, understand risk of various cancers, and advise on a management strategy. This is challenging as there are multiple studies regarding each gene, and it is not possible for clinicians and genetic counselors to be aware of all publications, nor to appreciate the relative accuracy and importance of each...
March 2, 2018: Journal of Genetic Counseling
Julia Mrosk, SriLakshmi Bhavani Gandham, Hitesh Shah, Jochen Hecht, Ulrike Krüger, Anju Shukla, Uwe Kornak, Katta Mohan Girisha
Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous disorder. Although differential diagnosis is greatly facilitated by next generation sequencing, its availability can vary considerably. In this study, we compared targeted gene panel or exome sequencing with clinical scoring and grouping in a cohort of 50 OI index patients recruited by a single Indian clinical center in an unselected fashion. In 48 patients we observed a total of 24 novel mutations and 24 known OI mutations, of which several were recurrent...
February 27, 2018: Bone
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