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https://www.readbyqxmd.com/read/28502727/concordance-between-research-sequencing-and-clinical-pharmacogenetic-genotyping-in-the-emerge-pgx-study
#1
Laura J Rasmussen-Torvik, Berta Almoguera, Kimberly F Doheny, Robert R Freimuth, Adam S Gordon, Hakon Hakonarson, Jared B Hawkins, Ammar Husami, Lynn Ivacic, Iftikhar J Kullo, Michael D Linderman, Teri A Manolio, Aniwaa O Obeng, Renata Pellegrino, Cynthia A Prows, Marylyn D Ritchie, Maureen Smith, Sarah C Stallings, Wendy A Wolf, Kejian Zhang, Stuart A Scott
There has been extensive debate about both the necessity of orthogonal confirmation of next-generation sequencing (NGS) results in Clinical Laboratory Improvement Amendments-approved laboratories and return of research NGS results to participants enrolled in research studies. In eMERGE-PGx, subjects underwent research NGS using PGRNseq and orthogonal targeted genotyping in clinical laboratories, which prompted a comparison of genotyping results between platforms. Concordance (percentage agreement) was reported for 4077 samples tested across nine combinations of research and clinical laboratories...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28389049/intuitive-pharmacogenetic-dosing-of-risperidone-according-to-cyp2d6-phenotype-extrapolated-from-genotype-in-a-cohort-of-first-episode-psychosis-patients
#2
Sergi Mas, Patricia Gassó, Mercé Torra, Miquel Bioque, Antonio Lobo, Ana González-Pinto, Maria Soledad Olmeda, Iluminada Corripio, Eduard Vieta, Josefina Castro-Fornieles, Roberto Rodriguez-Jimenez, Julio Bobes, Judith Usall, Adrián Llerena, Jerónimo Saiz-Ruiz, Miguel Bernardo, Amalia Lafuente, PEPs Group
Risperidone (R) is the most prescribed antipsychotic drug for patients with a first episode of psychosis (FEP). In a naturalistic cohort of chronic psychiatric inpatients, we demonstrated that clinicians adjust R dosage by CYP2D6 activity, despite being blinded to the genotype, which we described as an "intuitive pharmacogenetic" process. The aim of the present study is to replicate our previous findings of intuitive pharmacogenetic in a cohort of FEP patients using CYP2D6 phenotype extrapolated from genotypes...
April 4, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28314093/clinical-impact-of-pharmacogenetic-guided-treatment-for-patients-exhibiting-neuropsychiatric-disorders-a-randomized-controlled-trial
#3
RANDOMIZED CONTROLLED TRIAL
Marilyn C Olson, Alejandra Maciel, Jean Francois Gariepy, Ali Cullors, Juan-Sebastian Saldivar, David Taylor, Joel Centeno, Jorge A Garces, Sandeep Vaishnavi
Objective: Pharmacogenetic testing holds promise as a personalized medicine tool by permitting individualization of pharmacotherapy in accordance with genes influencing therapeutic response, side effects, and adverse events. The authors evaluated the effect on outcomes for patients diagnosed with neuropsychiatric disorders of pharmacogenetics (PGx)-guided treatment compared to usual standard of care. Methods: This was a prospective, randomized study of 237 patients at an outpatient community-based psychiatric practice conducted between April 2015 and October 2015...
March 16, 2017: Primary Care Companion to CNS Disorders
https://www.readbyqxmd.com/read/28282716/personalized-medicine-pharmacogenomics-and-drug-development
#4
Somayeh Mirsadeghi, Bagher Larijani
Personalized medicine aims is to supply the proper drug to the proper patient within the right dose. Pharmacogenomics (PGx) is to recognize genetic variants that may influence drug efficacy and toxicity. All things considered, the fields cover a wide area, including basic drug discovery researches, the genetic origin of pharmacokinetics and pharmacodynamics, novel drug improvement, patient genetic assessment and clinical patient administration. At last, the objective of Pharmacogenomics is to anticipate a patient's genetic response to a particular drug as a way of presenting the best possible medical treatment...
March 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28244804/assessing-feasibility-of-delivering-pharmacogenetic-testing-in-a-community-pharmacy-setting
#5
Susanne B Haga, Jivan Moaddeb, Rachel Mills, Deepak Voora
AIM: To describe the rationale and design of a study evaluating the delivery of pharmacogenetic (PGx) testing in community pharmacies. Study rationale: Pharmacists have expressed interest in offering PGx testing; however, their lack of knowledge and experience, patients' acceptance and feasibility are unknown in this setting. STUDY DESIGN: Through a cluster randomized trial, we will assess pharmacist and patient experiences with delivery of PGx testing as a standalone service or integrated into medication therapy management services...
March 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28238356/economic-utility-combinatorial-pharmacogenomics-and-medication-cost-savings-for-mental-health-care-in-a-primary-care-setting
#6
Lisa C Brown, Raymond A Lorenz, James Li, Bryan M Dechairo
PURPOSE: This study was an analysis based on a previously completed prospective study investigating medication costs of patients with mental illness guided by using the GeneSight proprietary combinatorial pharmacogenomic (PGx) test. The primary objective of this study was to determine potential cost savings of combinatorial PGx testing over the course of 1 year in patients with mental illness treated by primary care providers (PCPs) and psychiatrists who had switched or added a new psychiatric medication after patients failed to respond to monotherapy...
February 18, 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/28223667/-molecular-diagnosis-and-treatment-of-hboc-syndrome
#7
Yoshio Miki
Hereditary breast and ovarian cancer(HBOC)is an inherited cancer caused by mutations of the BRCA1 or BRCA2 genes. BRCA genetic testing is used for HBOC diagnosis and continues to progress such as the annotation of VUS. In HBOC clinical practice, surveillance methods have been established through collaboration between genetic medicine and cancer medicine, and treatment, including options based on genetic diagnosis, has advanced significantly. Furthermore, the analysis of BRCA1 and BRCA2 function has progressed, and a novel therapeutic method based on synthetic lethality, such as a PARP inhibitor use, has been developed...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28213088/personalized-medicine-genetic-risk-prediction-of-drug-response
#8
REVIEW
Ge Zhang, Daniel W Nebert
Pharmacogenomics (PGx), a substantial component of "personalized medicine", seeks to understand each individual's genetic composition to optimize drug therapy -- maximizing beneficial drug response, while minimizing adverse drug reactions (ADRs). Drug responses are highly variable because innumerable factors contribute to ultimate phenotypic outcomes. Recent genome-wide PGx studies have provided some insight into genetic basis of variability in drug response. These can be grouped into three categories. [a] Monogenic (Mendelian) traits include early examples mostly of inherited disorders, and some severe (idiosyncratic) ADRs typically influenced by single rare coding variants...
February 14, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28212353/effect%C3%A2-of%C3%A2-fibre%C3%A2-supplementation%C3%A2-on%C3%A2-body%C3%A2-weight%C3%A2-and%C3%A2-composition-%C3%A2-frequency%C3%A2-of%C3%A2-eating%C3%A2-and%C3%A2-dietary%C3%A2-choice%C3%A2-in%C3%A2-overweight%C3%A2-individuals
#9
Vicky A Solah, Deborah A Kerr, Wendy J Hunt, Stuart K Johnson, Carol J Boushey, Edward J Delp, Xingqiong Meng, Roland J Gahler, Anthony P James, Aqif S Mukhtar, Haelee K Fenton, Simon Wood
Fibre supplementation can potentially reduce energy intake and contribute to weight loss. The mechanism may be reduced frequency of eating, resulting in reduced food consumption. The objective of this research was to determine the effectiveness of fibre supplementation with PolyGlycopleX® (PGX®), on body weight and composition, frequency of eating and dietary intake in 118 overweight adults. In a three-arm, parallel, blind, randomised controlled trial participants were randomised to one of three groups; 4...
February 16, 2017: Nutrients
https://www.readbyqxmd.com/read/28176639/personalized-medicine-in-the-paediatric-population-the-balance-between-pharmacogenetics-progress-and-bioethics
#10
Stefania Schiavone, Margherita Neri, Cristoforo Pomara, Irene Riezzo, Luigia Trabace, Emanuela Turillazzi
Personalized medicine (PM) is becoming increasingly important in contemporary clinical and research scenarios. In the context of PM, pharmacogenomics and pharmacogenetics are aimed at the genetic personalization of drug response. Extrinsic and intrinsic factors may explain inter-individual variability in drug response. Among such factors, age seems to specifically intervene to modulate drug response since normal developmental changes may influence the exposure-response relation. Consequently, the potential benefit of pharmacogenomics (PGx) in the paediatric population is considerable...
February 7, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28146065/effect-on-insulin-glucose-and-lipids-in-overweight-obese-australian-adults-of-12-months-consumption-of-two-different-fibre-supplements-in-a-randomised-trial
#11
Sebely Pal, Suleen Ho, Roland J Gahler, Simon Wood
Higher fibre intakes are associated with risk reduction for chronic diseases. This study investigated the effects of supplementation with PolyGlycopleX(®) (PGX), a complexed polysaccharide, on insulin, glucose and lipids in overweight and obese individuals. In this double-blind 12 months study, participants were randomised into three groups: control (rice flour); PGX or psyllium (PSY). Participants followed their usual lifestyle and diet but consumed 5 g of their supplement before meals. Insulin was significantly lower in the PGX and PSY groups compared to control at 3 and 6 months and in the PSY group compared to control at 12 months...
January 29, 2017: Nutrients
https://www.readbyqxmd.com/read/28112992/a-nationwide-survey-of-pharmacists-perception-of-pharmacogenetics-in-the-context-of-a-clinical-decision-support-system-containing-pharmacogenetics-dosing-recommendations
#12
Paul Cd Bank, Jesse J Swen, Henk-Jan Guchelaar
AIM: To benchmark Dutch pharmacists knowledge, experience and attitudes toward pharmacogenetics (PGx) with a specific focus on the effects of awareness of the Dutch Pharmacogenetics Working Group guidelines. METHODS: A web-based survey containing 41 questions was sent to all certified Dutch pharmacists. RESULTS: A total of 667 pharmacists completed the survey (18.8%). Virtually all responders believed in the concept of PGx (99.7%). However, only 14...
February 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28046094/analysis-of-genetic-variation-in-cyp450-genes-for-clinical-implementation
#13
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
#14
Erika Cecchin, Rossana Roncato, Hendrik Jan Guchelaar, Giuseppe Toffoli, and for the Ubiquitous Pharmacogenomics Consortium
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
#15
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
#16
RANDOMIZED CONTROLLED TRIAL
C H van der Wouden, A Cambon-Thomsen, E Cecchin, K C Cheung, C L Dávila-Fajardo, V H Deneer, V Dolžan, M Ingelman-Sundberg, S Jönsson, M O Karlsson, M Kriek, C Mitropoulou, G P Patrinos, M Pirmohamed, M Samwald, E Schaeffeler, M Schwab, D Steinberger, J Stingl, G Sunder-Plassmann, G Toffoli, R M Turner, M H van Rhenen, J J Swen, H-J Guchelaar
Despite scientific and clinical advances in the field of pharmacogenomics (PGx), application into routine care remains limited. Opportunely, several implementation studies and programs 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...
March 2017: 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
#17
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
#18
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)...
March 2017: 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
#19
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
#20
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
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