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Pharmacogenomics and Personalized Medicine

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https://www.readbyqxmd.com/read/30214267/qualitative-user-evaluation-of-a-revised-pharmacogenetic-educational-toolkit
#1
Rachel Mills, Susanne B Haga
Introduction: Pharmacogenetic (PGx) testing is a leading application for personalized and precision medicine; however, there are barriers, including limited provider and patient understanding, which affect its uptake. There is a need for tools that can enhance the patient and provider experience with testing and promoting the shared and informed decision-making. Materials and methods: In this study, we sought to gather additional feedback on a PGx toolkit comprised of four educational tools that had been previously evaluated through an online survey by pharmacists...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/30100750/the-impact-of-abcb1-rs1045642-and-rs4148738-and-ces1-rs2244613-gene-polymorphisms-on-dabigatran-equilibrium-peak-concentration-in-patients-after-total-knee-arthroplasty
#2
Dmitriy Alekseevich Sychev, Alexander Nikolaevich Levanov, Tatiana Vladimirovna Shelekhova, Pavel Olegovich Bochkov, Natalia Pavlovna Denisenko, Kristina Anatolyevna Ryzhikova, Karin Badavievich Mirzaev, Elena Anatolyevna Grishina, Mikhail Alekseevich Gavrilov, Galina Vladislavovna Ramenskaya, Aleksei Vladimirovich Kozlov, Tanya Bogoslovsky
Background: Non-vitamin K oral anticoagulants (NOACs) are commonly used for prophylaxis of venous thromboembolism (VTE) in orthopedic patients. Despite known safety and high potency of NOACs, potential interactions of NOACs with genetic polymorphisms are poorly understood. Dabigatran etexilate is one of the most commonly prescribed direct thrombin inhibitors for the prevention of VTE. The objectives of this study were to assess the effect of ABCB1 (rs1045642 and rs4148738) and CES1 (rs2244613) polymorphisms on dabigatran pharmacokinetics in patients after total knee arthroplasty...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/30050316/the-functional-variant-rs334558-of-gsk3b-is-associated-with-remission-in-patients-with-depressive-disorders
#3
Anastasia Levchenko, Innokentiy S Losenkov, Natalia M Vyalova, German G Simutkin, Nikolay A Bokhan, Bob Wilffert, Anton Jm Loonen, Svetlana A Ivanova
Purpose: GSK3B and AKT1 genes have been implicated in the pathogenesis of a number of psychiatric and neurological disorders. Furthermore, their genetic variants are associated with response to antidepressant pharmacotherapy. As the evidence is still incomplete and inconsistent, continuing efforts to investigate the role of these two genes in the pathogenesis and treatment of brain disorders is necessary. The aim of our study was thus to evaluate the association of variants of these two genes with depressive disorders and drug treatment response...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29988737/effects-of-cyp2d6-genetic-polymorphisms-on-the-efficacy-and-safety-of-fluvoxamine-in-patients-with-depressive-disorder-and-comorbid-alcohol-use-disorder
#4
Mikhail Sergeevich Zastrozhin, Elena Anatolievna Grishina, Nataliya Petrovna Denisenko, Valentin Yurievich Skryabin, Dmitry Dmitrievich Markov, Ludmila Mikhailovna Savchenko, Evgeny Alekseevich Bryun, Dmitry Alekseevich Sychev
Background: Fluvoxamine therapy is used for treatment of patients with depressive disorder, but it is often ineffective, and some patients suffer from dose-dependent undesirable side effects such as vertigo, headache, indigestion, xerostomia, increased anxiety, etc. CYP2D6 is involved in the biotransformation of fluvoxamine. Meanwhile, the genes encoding these isoenzymes have a high level of polymorphism, which may affect the protein synthesis. Objective: The primary objective of our study was to investigate the effects of CYP2D6 genetic polymorphisms on the efficacy and safety of fluvoxamine in patients with depressive disorder and comorbid alcohol use disorder, in order to develop the algorithms of optimization of fluvoxamine therapy for reducing the risk of dose-dependent undesirable side effects and pharmacoresistance...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29950882/cyp3a-and-cyp2c19-activity-in-urine-in-relation-to-cyp3a4-cyp3a5-and-cyp2c19-polymorphisms-in-russian-peptic-ulcer-patients-taking-omeprazole
#5
Natalia P Denisenko, Dmitriy A Sychev, Zhanna M Sizova, Valeriy V Smirnov, Kristina A Ryzhikova, Zhannet A Sozaeva, Elena A Grishina
Background: Proton pump inhibitors (PPIs) are metabolized by cytochrome P450. CYP2C19 is the main isoenzyme for the majority of PPI, whereas CYP3A family is a secondary enzyme for PPI biotransformation. Purpose: The aim of the study was to find if CYP3A4*22, CYP3A5*3, CYP2C19*2, CYP2C19*3 , and CYP2C19*17 genotypes are connected with CYP3A and CYP2C19 activities in Russian peptic ulcer patients taking omeprazole. Patients and methods: Forty-eight gastric or duodenal ulcer patients (15 men, 33 women; mean age 55...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29922082/pharmacogenetic-association-study-on-clopidogrel-response-in-puerto-rican-hispanics-with-cardiovascular-disease-a-novel-characterization-of-a-caribbean-population
#6
Dagmar F Hernandez-Suarez, Mariana R Botton, Stuart A Scott, Matthew I Tomey, Mario J Garcia, Jose Wiley, Pedro A Villablanca, Kyle Melin, Angel Lopez-Candales, Jessicca Y Renta, Jorge Duconge
Introduction: High on-treatment platelet reactivity (HTPR) to clopidogrel imparts an increased risk for ischemic events in adults with coronary artery disease. Platelet reactivity varies with ethnicity and is influenced by both clinical and genetic variables; however, no clopidogrel pharmacogenetic studies with Puerto Rican patients have been reported. Therefore, we sought to identify clinical and genetic determinants of on-treatment platelet reactivity in a cohort of Puerto Rican patients with cardiovascular disease...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29844697/emerging-biomarkers-in-the-diagnosis-of-prostate-cancer
#7
REVIEW
Xavier Filella, Esther Fernández-Galan, Rosa Fernández Bonifacio, Laura Foj
Prostate cancer (PCa) is the second most common cancer in men worldwide. A large proportion of PCa are latent, never destined to progress or affect the patients' life. It is of utmost importance to identify which PCa are destined to progress and which would benefit from an early radical treatment. Prostate-specific antigen (PSA) remains the most used test to detect PCa. Its limited specificity and an elevated rate of overdiagnosis are the main problems associated with PSA testing. New PCa biomarkers have been proposed to improve the accuracy of PSA in the management of early PCa...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29731659/meta-analysis-of-the-association-of-the-haptoglobin-genotype-with-cardiovascular-outcomes-and-the-pharmacogenomic-interactions-with-vitamin-e-supplementation
#8
Rabea Asleh, Alexandros Briasoulis, Elliot M Berinstein, Joshua B Wiener, Mohan Palla, Sudhir S Kushwaha, Andrew P Levy
Objectives: The objectives of the study were to compile and summarize the data from all of the clinical trials designed to examine the association between haptoglobin (Hp) genotype and incidence of cardiovascular (CV) events in patients with diabetes mellitus (DM) and to assess the impact of vitamin E treatment on CV outcomes according to the Hp genotype. Background: The Hp genotype could serve as a predictive biomarker to DM patients who may benefit from vitamin E therapy...
2018: Pharmacogenomics and Personalized Medicine
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
#9
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/29692621/h3africa-current-perspectives
#10
REVIEW
Nicola Mulder, Alash'le Abimiku, Sally N Adebamowo, Jantina de Vries, Alice Matimba, Paul Olowoyo, Michele Ramsay, Michelle Skelton, Dan J Stein
Precision medicine is being enabled in high-income countries by the growing availability of health data, increasing knowledge of the genetic determinants of disease and variation in response to treatment (pharmacogenomics), and the decreasing costs of data generation, which promote routine application of genomic technologies in the health sector. However, there is uncertainty about the feasibility of applying precision medicine approaches in low- and middle-income countries, due to the lack of population-specific knowledge, skills, and resources...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29636628/cyp2c9-polymorphisms-in-epilepsy-influence-on-phenytoin-treatment
#11
REVIEW
Carlos Eduardo Silvado, Vera Cristina Terra, Carlos Alexandre Twardowschy
Phenytoin (PHT) is an antiepileptic drug widely used in the treatment of focal epilepsy and status epilepticus, and effective in controlling focal seizures with and without tonic-clonic generalization and status epilepticus. The metabolization of PHT is carried out by two oxidative cytochrome P450 enzymes CYP2C9 and CYP2C19; 90% of this metabolization is done by CYP2C9 and the remaining 10% by CYP2C19. Genetic polymorphism of CYP2C9 may reduce the metabolism of PHT by 25-50% in patients with variants *2 and *3 compared to those with wild-type variant *1...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29606886/influence-of-abcb1-and-cyp3a5-gene-polymorphisms-on-pharmacokinetics-of-apixaban-in-patients-with-atrial-fibrillation-and-acute-stroke
#12
Alexander Valerevich Kryukov, Dmitry Alekseevich Sychev, Denis Anatolevich Andreev, Kristina Anatolievna Ryzhikova, Elena Anatolievna Grishina, Anastasia Vladislavovna Ryabova, Mark Alekseevich Loskutnikov, Valeriy Valerevich Smirnov, Olga Dmitrievna Konova, Irina Andreevna Matsneva, Pavel Olegovich Bochkov
Introduction: Difficulties in non-vitamin K anticoagulant (NOAC) administration in acute stroke can be associated with changes in pharmacokinetic parameters of NOAC such as biotransformation, distribution, and excretion. Therefore, obtaining data on pharmacokinetics of NOAC and factors that affect it may help develop algorithms for personalized use of this drug class in patients with acute cardioembolic stroke. Patients and methods: Pharmacokinetics of apixaban in patients with acute stroke was studied earlier by Kryukov et al...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29588611/the-utility-of-pharmacogenetic-testing-to-support-the-treatment-of-bipolar-disorder
#13
Marta Ielmini, Nicola Poloni, Ivano Caselli, Jordi Espadaler, Miquel Tuson, Alessandro Grecchi, Camilla Callegari
Background: Bipolar disorder (BD) is a frequent cause of disability, health care costs, and risk of suicide. Pharmacogenetic tests (PGTs) could help clinicians to identify those patients predisposed to the occurrence of adverse events (AEs) improving the understanding of the correlation between genetic variants and drug response. Materials and methods: The study evaluated 30 patients affected by BD type I or II (according to Diagnostic and Statistical Manual of Mental Disorders, version 5 ) who underwent the PGT Neurofarmagen® (AB-BIOTICS SA, Barcelona, Spain) between March 2016 and March 2017...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29563827/cyp3a5-polymorphisms-in-renal-transplant-recipients-influence-on-tacrolimus-treatment
#14
REVIEW
Lucy Chen, G V Ramesh Prasad
Tacrolimus is a commonly used immunosuppressant after kidney transplantation. It has a narrow therapeutic range and demonstrates wide interindividual variability in pharmacokinetics, leading to potential underimmunosuppression or toxicity. Genetic polymorphism in CYP3A5 enzyme expression contributes to differences in tacrolimus bioavailability between individuals. Individuals carrying one or more copies of the wild-type allele *1 express CYP3A5, which increases tacrolimus clearance. CYP3A5 expressers require 1...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29497326/which-attributes-of-whole-genome-sequencing-tests-are-most-important-to-the-general-population-results-from-a-german-preference-study
#15
Marika Plöthner, Katharina Schmidt, Clarissa Schips, Kathrin Damm
Objective: The aim of this study was to identify the preferences for whole genome sequencing (WGS) tests without genetic counseling. Methods: A discrete choice experiment was conducted where participants chose between two hypothetical alternatives consisting of the following attributes: test accuracy, test costs, identified diseases, probability of disease occurrence, and data access. People from the general German population aged ≥18 years were eligible to participate in the survey...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29343979/the-influence-of-cyp3a5-polymorphisms-on-haloperidol-treatment-in-patients-with-alcohol-addiction
#16
Mikhail Sergeevich Zastrozhin, Elena Anatolievna Grishina, Kristina Anatolievna Ryzhikova, Valery Valerievich Smirnov, Ludmila Mikhailovna Savchenko, Evgeny Alekseevich Bryun, Dmitry Alekseevich Sychev
Background: Isoenzymes CYP2D6 and CYP3A4, the activity of which varies widely, are involved in metabolism of haloperidol and may influence its profile of efficacy and safety. Objective: The primary aim of this study was to estimate the relationship between CYP3A5 gene polymorphism, activity of the CYP3A isoenzyme, and the risk of development of adverse drug reactions by haloperidol in patients with alcohol abuse. Methods: Sixty-six male alcohol-addicted patients participated in the study...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29255371/ethiopian-health-care-professionals-knowledge-attitude-and-interests-toward-pharmacogenomics
#17
Ousman Abubeker Abdela, Akshaya Srikanth Bhagavathula, Eyob Alemayehu Gebreyohannes, Henok Getachew Tegegn
Background: Pharmacogenomics is a field of science which studies the impact of inheritance on individual variation in medication therapy response. Aim: We assessed healthcare professionals' knowledge, attitude, and interest toward pharmacogenomics. Methods: A cross-sectional survey was conducted using a 32-item questionnaire among physicians, nurses, and pharmacists who were working at the University of Gondar Referral and Teaching Hospital in northwest Ethiopia...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29184431/update-on-the-clinical-utility-of-an-rna-interference-based-treatment-focus-on-patisiran
#18
REVIEW
Malak Rizk, Şükrü Tüzmen
RNA interference (RNAi) is a naturally existing endogenous mechanism for post-transcriptional gene regulation, nowadays commonly utilized for functional characterization of genes and development of potential treatment strategies for diseases. RNAi-based studies for therapy, after being examined for over a decade, are finally in the pipeline for developing a potential treatment for the mutated transthyretin (TTR) gene, which gives rise to a dysfunctional TTR protein. This dysfunctional protein causes TTR amyloidosis (ATTR), an inherited, progressively incapacitating, and often fatal genetic disorder...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29089781/pharmacogenomics-of-sickle-cell-disease-steps-toward-personalized-medicine
#19
REVIEW
Marium Husain, Amber D Hartman, Payal Desai
Sickle cell disease (SCD) is a monogenetic disease but has a wide range of phenotypic expressions. Some of these differences in phenotype can be explained by genetic polymorphisms in the human globin gene. These polymorphisms can result in different responses to typical treatment, sometimes leading to inadequate therapeutics. Research is revealing more polymorphisms, and therefore, new targets for intervention to improve outcomes in SCD. This area of pharmacogenomics is continuing to develop. We provide a brief review of the current literature on pharmacogenomics in SCD and possible targets for intervention...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29075133/do-cyp2c19-and-abcb1-gene-polymorphisms-and-low-cyp3a4-isoenzyme-activity-have-an-impact-on-stent-implantation-complications-in-acute-coronary-syndrome-patients
#20
Eric Rytkin, Karin B Mirzaev, Elena A Grishina, Valeriy V Smirnov, Kristina A Ryzhikova, Zhannet A Sozaeva, Michael Iu Giliarov, Denis A Andreev, Dmitriy A Sychev
AIM: The aim of this study was to determine the impact of CYP2C19 and ABCB1 gene polymorphisms and CYP3A4 isoenzyme activity on stent implantation complications among patients with an acute coronary syndrome (ACS) who underwent percutaneous coronary intervention (PCI). PATIENTS AND METHODS: Seventy-six patients (median age 63, range 37-91 years) with an ACS who underwent PCI were screened for CYP2C19 and ABCB1 gene polymorphisms with real-time polymerase chain reaction: CYP2C19*2 , CYP2C19*17 , and ABCB1 3435 ...
2017: Pharmacogenomics and Personalized Medicine
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