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https://www.readbyqxmd.com/read/28046094/analysis-of-genetic-variation-in-cyp450-genes-for-clinical-implementation
#1
Liuh Ling Goh, Chia Wei Lim, Wey Cheng Sim, Li Xian Toh, Khai Pang Leong
BACKGROUND: Genetic determinants of drug response remain stable throughout life and offer great promise to patient-tailored drug therapy. The adoption of pharmacogenetic (PGx) testing in patient care requires accurate, cost effective and rapid genotyping with clear guidance on the use of the results. Hence, we evaluated a 32 SNPs panel for implementing PGx testing in clinical laboratories. METHODS: We designed a 32-SNP panel for PGx testing in clinical laboratories...
2017: PloS One
https://www.readbyqxmd.com/read/28044932/ubiquitous-pharmacogenomics-u-pgx-the-time-for-implementation-is-now-an-horizon2020-program-to-drive-pharmacogenomics-into-clinical-practice
#2
Erika Cecchin, Rossana Roncato, Hendrik Jan Guchelaar, Giuseppe Toffoli
Although the clinical validity of a number of pharmacogenetic markers is nowadays a matter of fact, and led authoritative scientific consortia as the Dutch Pharmacogenetic Working Group (DPWG) and the Clinical Pharmacogenomics Implementation Consortium (CPIC) to publish pharmacogenetic guidelines, the clinical implementation in the real life remains challenging. Ubiquitous Pharmacogenomics (U-PGx) program is a coordinated effort that put together scientific and clinical expertise in the pharmacogenomic field, to implement the pre-emptive pharmacogenomic approach in the clinical practice in Europe, and to demonstrate its benefit in both patients clinical outcome and quality of life, with an economic advantage for the healthcare system...
January 2, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28033245/vkorc1-and-cyp2c9-polymorphisms-related-to-adverse-events-in-case-control-cohort-of-anticoagulated-patients
#3
Silvia Misasi, Giuliana Martini, Oriana Paoletti, Stefano Calza, Giovanni Scovoli, Alessandra Marengoni, Sophie Testa, Luigi Caimi, Eleonora Marchina
Vitamin K antagonists (VKAs) are highly effective but have a narrow therapeutic index and require routine monitoring of the INR. The primary aim of pharmacogenetics (PGx) is to optimize patient care, achieving drug treatments that are personalized according to the genetic profile of each patient. The best-characterized genes involved in VKA PGx involve pharmacokinetics (VKORC1) and pharmacodynamics (CYP2C9) of VKA metabolism. The role of these genes in clinical outcomes (bleeding and thrombosis) during oral anticoagulant (OAC) therapy is controversial...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28027596/implementing-pharmacogenomics-in-europe-design-and-implementation-strategy-of-the-ubiquitous-pharmacogenomics-consortium
#4
Cathelijne H van der Wouden, Anne Cambon-Thomsen, Erika Cecchin, Ka-Chun Cheung, Cristina Lucía Dávila-Fajardo, Vera H Deneer, Vita Dolžan, Magnus Ingelman-Sundberg, Siv Jönsson, Mats O Karlsson, Marjolein Kriek, Christina Mitropoulou, George P Patrinos, Munir Pirmohamed, Matthias Samwald, Elke Schaeffeler, Matthias Schwab, Daniela Steinberger, Julia Stingl, Gere Sunder-Plassmann, Giuseppe Toffoli, Richard M Turner, Mandy H van Rhenen, Jesse J Swen, Henk-Jan Guchelaar
Despite scientific and clinical advances in the field of pharmacogenomics (PGx), application into routine care remains limited. Opportunely, several implementation studies and programmes have been initiated over recent years. This article presents an overview of these studies and identifies current research gaps. Importantly, one such gap is the undetermined collective clinical utility of implementing a panel of PGx-markers into routine care, because the evidence base is currently limited to specific, individual drug-gene pairs...
December 27, 2016: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/27987157/incorporating-pharmacogenomics-into-health-information-technology-electronic-health-record-and-decision-support-system-an-overview
#5
Abdullah Alanazi
As the adoption of information technology in healthcare is rising, the potentiality of moving Pharmacogenomics from benchside to bedside is aggravated. This paper reviews the current status of Pharmacogenomics (PGx) information and the attempts for incorporating them into the Electronic Health Record (EHR) system through Decision Support Systems (DSSs). Rigorous review strategies of PGx information and providing context-relevant recommendations in form of action plan- dose adjustment, lab tests rather than just information- would be ideal for making clinical recommendations out of PGx information...
February 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/27955884/pharmacogenetics-guided-analgesics-in-major-abdominal-surgery-further-benefits-within-an-enhanced-recovery-protocol
#6
Anthony J Senagore, Bradley J Champagne, Eslam Dosokey, Justin Brady, Scott R Steele, Harry L Reynolds, Sharon L Stein, Conor P Delaney
OBJECTIVE: Effective, narcotic sparing analgesia is a major component of Enhanced Recovery Protocols (ERP), however the risk of poor analgesia and opioid related side effects (ORADE) remains an issue related to poor outcomes and satisfaction, and is strongly related to the risk of narcotic dependence after surgery. A variety of genes can impact narcotic and non-steroidal (NSAID) drug efficacy including: the CYP family (drug metabolism-narcotics and NSAID), or COMT/ABCB1/OPRM1 (functional receptor and transport activity for analgesia vs side effects)...
November 22, 2016: American Journal of Surgery
https://www.readbyqxmd.com/read/27891167/effect-on-body-weight-and-composition-in-overweight-obese-australian-adults-over-12%C3%A2-months-consumption-of-two-different-types-of-fibre-supplementation-in-a-randomized-trial
#7
Sebely Pal, Suleen Ho, Roland J Gahler, Simon Wood
BACKGROUND/OBJECTIVES: Higher fibre intakes are associated with risk reduction for chronic diseases. However, many people find difficulty in consuming sufficient fibre through their diet. Supplements may be an effective alternative. We aimed to investigate the effects of PolyGlycopleX® (PGX®), a proprietary polysaccharide complex and a proprietary Psyllium product (PgxSyl™) (PSY) on diet, body weight and composition in overweight and obese individuals. SUBJECTS/METHODS: This was a double-blind 52 weeks study with 159 people randomized to 3 groups: control (rice flour); PGX (PGX) and proprietary psyllium (PSY)...
2016: Nutrition & Metabolism
https://www.readbyqxmd.com/read/27821435/what-can-be-learned-from-recent-new-drug-applications-a-systematic-review-of-drug-interaction-data-for-drugs-approved-by-the-us-fda-in-2015
#8
Jingjing Yu, Zhu Zhou, Katie H Owens, Tasha K Ritchie, Isabelle Ragueneau-Majlessi
As a follow up to previous reviews, the aim of the present analysis was to systematically examine all drug metabolism, transport, pharmacokinetics (PK), and drug-drug interaction (DDI) data available in the 33 new drug applications (NDAs) approved by the Food and Drug Administration (FDA) in 2015, using the University of Washington Drug Interaction Database, and to highlight the significant findings. In vitro, a majority of the new molecular entities (NMEs) were found to be substrates or inhibitors/inducers of at least one drug metabolizing enzyme or transporter...
January 2017: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/27798813/economic-evaluation-of-a-pharmacogenomics-test-for-statin-induced-myopathy-in-cardiovascular-high-risk-patients-initiating-a-statin
#9
Dominic Mitchell, Jason R Guertin, Ange Christelle Iliza, Fiorella Fanton-Aita, Jacques LeLorier
BACKGROUND: Statins are the mainstay hypercholesterolemia treatment and reduce the risk of cardiovascular events in patients. However, statin therapy is often interrupted in patients experiencing musculoskeletal pain or myopathy, which are common in this patient group. Currently, the standard tests for diagnosing statin myopathies are difficult to interpret. A pharmacogenomics (PGx) test to diagnose statin-induced myopathy would be highly desirable. METHODS: We developed a Markov state model to assess the cost-effectiveness of a hypothetical PGx test, which aims to identify statin-induced myopathy in high-risk, secondary prevention cardiovascular patients...
October 31, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/27767407/addressing-ethical-challenges-at-the-intersection-of-pharmacogenomics-and-primary-care-using-deliberative-consultations
#10
Cristina Longo, Vasiliki Rahimzadeh, Kieran O'Doherty, Gillian Bartlett
AIM: Primary care physicians will play a central role in the successful implementation of pharmacogenomics (PGx); however, important challenges remain. We explored the perspectives of stakeholders on key challenges of the PGx translation process in primary care using deliberative consultations. METHODS: Primary care physicians, patients and policy-makers attended deliberations, where they discussed four ethical questions raised by PGx research and implementation in the primary care context...
October 21, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27764192/incidence-of-exposure-of-patients-in-the-united-states-to-multiple-drugs-for-which-pharmacogenomic-guidelines-are-available
#11
Matthias Samwald, Hong Xu, Kathrin Blagec, Philip E Empey, Daniel C Malone, Seid Mussa Ahmed, Patrick Ryan, Sebastian Hofer, Richard D Boyce
Pre-emptive pharmacogenomic (PGx) testing of a panel of genes may be easier to implement and more cost-effective than reactive pharmacogenomic testing if a sufficient number of medications are covered by a single test and future medication exposure can be anticipated. We analysed the incidence of exposure of individual patients in the United States to multiple drugs for which pharmacogenomic guidelines are available (PGx drugs) within a selected four-year period (2009-2012) in order to identify and quantify the incidence of pharmacotherapy in a nation-wide patient population that could be impacted by pre-emptive PGx testing based on currently available clinical guidelines...
2016: PloS One
https://www.readbyqxmd.com/read/27719379/a-model-to-assess-the-cost-effectiveness-of-pharmacogenomics-tests-in-chronic-heart-failure-the-case-of-ivabradine
#12
Ange C Iliza, Alexis Matteau, Jason R Guertin, Dominic Mitchell, Fiorella Fanton-Aita, Anick Dubois, Marie-Pierre Dubé, Jean-Claude Tardif, Jacques LeLorier
Pharmacogenomics (PGx) tests have the potential of improving the effectiveness of expensive new drugs by predicting the likelihood, for a particular patient, to respond to a treatment. The objective of this study was to develop a pharmacoeconomic model to determine the characteristics and the cost-effectiveness of a hypothetical PGx test, which would identify patients who are most likely to respond to an expensive treatment for chronic heart failure. For this purpose, we chose the example of ivabradine. Our results suggest that the use of a PGx test that could select a subgroup of patients to be treated with an expensive drug has the potential to provide more efficient drug utilization...
October 10, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27662648/pharmacogenomics-in-pain-treatment
#13
Ana M Peiró, Beatriz Planelles, Gabriella Juhasz, György Bagdy, Frédéric Libert, Alain Eschalier, Jérôme Busserolles, Beata Sperlagh, Adrián Llerena
The experience of chronic pain is one of the commonest reasons for seeking medical attention, being a major issue in clinical practice. While pain is a universal experience, only a small proportion of people who felt pain develop pain syndromes. In addition, painkillers are associated with wide inter-individual variability in the analgesic response. This may be partly explained by the presence of single nucleotide polymorphisms in genes encoding molecular entities involved in pharmacodynamics and pharmacokinetics...
September 1, 2016: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/27648637/patient-experiences-with-pharmacogenetic-testing-in-a-primary-care-setting
#14
Susanne B Haga, Rachel Mills, Jivan Moaddeb, Nancy Allen Lapointe, Alex Cho, Geoffrey S Ginsburg
AIM: To investigate patient experiences with pharmacogenetic (PGx) testing. METHODS: Patients were offered PGx testing through a study on pharmacist-assisted delivery of PGx testing and invited to complete pre- and post-testing surveys about their experience. RESULTS: Of 63 patients tested, 17 completed the baseline survey (27%). Interest in testing was mostly impacted by desire to inform selection of best treatment (n = 13). Seven of 12 patients that completed the follow-up survey indicated that their provider discussed the test result with them...
October 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27631363/epga-a-web-based-information-system-for-translational-pharmacogenomics
#15
Kleanthi Lakiotaki, Evgenia Kartsaki, Alexandros Kanterakis, Theodora Katsila, George P Patrinos, George Potamias
One of the challenges that arise from the advent of personal genomics services is to efficiently couple individual data with state of the art Pharmacogenomics (PGx) knowledge. Existing services are limited to either providing static views of PGx variants or applying a simplistic match between individual genotypes and existing PGx variants. Moreover, there is a considerable amount of haplotype variation associated with drug metabolism that is currently insufficiently addressed. Here, we present a web-based electronic Pharmacogenomics Assistant (ePGA; http://www...
2016: PloS One
https://www.readbyqxmd.com/read/27606321/genetics-of-common-antipsychotic-induced-adverse-effects
#16
REVIEW
Raymond R MacNeil, Daniel J Müller
The effectiveness of antipsychotic drugs is limited due to accompanying adverse effects which can pose considerable health risks and lead to patient noncompliance. Pharmacogenetics (PGx) offers a means to identify genetic biomarkers that can predict individual susceptibility to antipsychotic-induced adverse effects (AAEs), thereby improving clinical outcomes. We reviewed the literature on the PGx of common AAEs from 2010 to 2015, placing emphasis on findings that have been independently replicated and which have additionally been listed to be of interest by PGx expert panels...
July 2016: Molecular Neuropsychiatry
https://www.readbyqxmd.com/read/27551817/progressing-preemptive-genotyping-of-cyp2c19-allelic-variants-for-sickle-cell-disease-patients
#17
Cheedy Jaja, Nadine Barrett, Niren Patel, Matt Lyon, Hongyan Xu, Abdullah Kutlar
AIMS: Interindividual variability in drug response and adverse effects have been described for proton pump inhibitors, anticonvulsants, selective serotonin reuptake inhibitors, tricyclic antidepressants, and anti-infectives, but little is known about the safety and efficacy of these medications in patients with sickle cell disease (SCD). We genotyped the CYP2C19 gene which has been implicated in the metabolism of these drugs in an SCD patient cohort to determine the frequencies of reduced function, increased function, or complete loss-of-function variants...
October 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27533720/a-review-of-consent-practices-and-perspectives-for-pharmacogenetic-testing
#18
Susanne B Haga, Rachel Mills
AIM: We aimed to understand consent practices for pharmacogenetic (PGx) testing. METHODS: We conducted a literature review and analysis of consent forms from clinical laboratories offering PGx testing. RESULTS: Our review of the literature shows a lack of consensus about the need for and type of informed consent for PGx testing. We identified 35 companies offering PGx testing and were able to confirm consent practices for 22 of those. We found a range of variability in the consent practices regarding the consent approach and information disclosed...
September 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27533631/evaluation-of-a-pharmacogenetic-educational-toolkit-for-community-pharmacists
#19
Susanne B Haga, Rachel Mills, Jivan Moaddeb
AIM: Over the past several decades, the roles and services of community pharmacists have expanded beyond traditional medical dispensation and compounding, and include health services such as vaccinations, and clinical testing and screening. Incorporating pharmacogenetic (PGx) testing into the menu of pharmacy services is logical and feasible; however, few pharmacists have experience with PGx testing, and few educational resources about PGx are available to support the uptake of PGx testing in community pharmacies...
September 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27459874/evaluation-of-the-iplex%C3%A2-adme-pgx-pro-panel-and-allele-frequencies-of-pharmacogenetic-markers-in-danes
#20
Line Jensen, Claus Børsting, Kim Dalhoff, Niels Morling
OBJECTIVES: The iPlex® ADME PGx Pro Panel was developed to investigate 191 polymorphisms including single nucleotide polymorphisms (SNPs), insertion-deletions (INDELS), and copy number variations (CNV) relevant for absorption, distribution, metabolism, and excretion (ADME) of drugs. The purpose of this study was to perform a technical evaluation of the iPlex® ADME PGx Pro Panel by genotyping 50 unrelated Danes and estimate preliminary genotype frequencies among Danes. DESIGN AND METHODS: The investigations were performed by the use of PCR, single base extension (SBE) and Matrix Assisted Laser Desorption/Ionization-Time of Flight Mass Spectrometry (MALDI-TOF-MS)...
November 2016: Clinical Biochemistry
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