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Application of pharmacogenetic tests

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https://www.readbyqxmd.com/read/28552060/thiopurine-s-methyltransferase-as-a-pharmacogenetic-biomarker-significance-of-testing-and-review-of-major-methods
#1
Chingiz Asadov, Gunay Aliyeva, Kamala Mustafayeva
Thiopurine S-methyltransferase (TPMT) enzyme metabolizes thiopurine drugs which are widely used in various disciplines as well as in leukemias. Individual enzyme activity varies depending on the genetic polymorphisms of TPMT gene located at chromosome 6. Up to 14% of population is known to have a decreased enzyme activity, and if treated with standard doses of thiopurines, these individuals are at the high risk of severe adverse drug reactions (ADR) as myelosuppression, gastrointestinal intolerance, pancreatitis and hypersensitivity...
May 28, 2017: Cardiovascular & Hematological Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/28318610/pharmacogenetics-of-immunosuppressants-state-of-the-art-and-clinical-implementation%C3%A2-%C3%A2-recommendations-from-the-french-national-network-of-pharmacogenetics-rnpgx
#2
Jean-Baptiste Woillard, Laurent Chouchana, Nicolas Picard, Marie-Anne Loriot
Therapeutic drug monitoring is already widely used for immunosuppressive drugs due to their narrow therapeutic index. This article summarizes evidence reported in the literature regarding the pharmacogenetics of (i) immunosuppressive drugs used in transplantation and (ii) azathioprine used in chronic inflammatory bowel disease. The conditions of use of currently available major pharmacogenetic tests are detailed and recommendations are provided based on a scale established by the RNPGx scoring tests as "essential", "advisable" and "potentially useful"...
April 2017: Thérapie
https://www.readbyqxmd.com/read/28262261/pharmacogenetics-of-anti-cancer-drugs-state-of-the-art-and-implementation%C3%A2-%C3%A2-recommendations-of-the-french-national-network-of-pharmacogenetics
#3
Sylvie Quaranta, Fabienne Thomas
Individualized treatment is of special importance in oncology because the drugs used for chemotherapy have a very narrow therapeutic index. Pharmacogenetics may contribute substantially to clinical routine for optimizing cancer treatment to limit toxic effects while maintaining efficacy. This review presents the usefulness of pharmacogenetic tests for some key applications: dihydropyrimidine dehydrogenase (DPYD) genotyping for fluoropyrimidine (5-fluorouracil, capecitabine), UDP glucuronosylstransferase (UGT1A1) for irinotecan and thiopurine S-methyltransferase (TPMT) for thiopurine drugs...
January 30, 2017: Thérapie
https://www.readbyqxmd.com/read/28259615/resequencing-array-for-gene-variant-detection-in-malignant-hyperthermia-and-butyrylcholinestherase-deficiency
#4
Soledad Levano, Asensio Gonzalez, Martine Singer, Philippe Demougin, Henrik Rüffert, Albert Urwyler, Thierry Girard
Malignant hyperthermia (MH) and butyrylcholinestherase (BCHE) deficiency are two relevant pharmacogenetic disorders in anesthetic practice linked with sequence variants, the former in the RyR1 and CACNA1S genes, the latter in the BCHE gene. Genotyping for known pathogenic variants in these genes is useful to help identify susceptible individuals, and others may exist but remain unknown, because full-length sequence of these genes is, in general, not investigated. To facilitate this task, we developed a resequencing DNA array, the perioperative patient safety (POPS) array, to be able to screen the entire coding sequences of the RyR1, CACNA1S and BCHE genes...
May 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28188737/genetic-variation-in-the-behavioral-effects-of-buprenorphine-in-female-mice-derived-from-a-murine-model-of-the-oprm1-a118g-polymorphism
#5
Caroline A Browne, Rebecca L Erickson, Julie A Blendy, Irwin Lucki
Pharmacogenetic studies have identified the non-synonymous single nucleotide polymorphism (A118G) in the human mu opioid receptor (MOR) gene (OPRM1) as a critical genetic variant capable of altering the efficacy of opioid therapeutics. To date few studies have explored the potential impact of the OPRM1 A118G polymorphism on the pharmacological effects of buprenorphine (BPN), a potent MOR partial agonist and kappa opioid receptor antagonist, which is approved by the FDA for the treatment of opioid addiction and chronic pain...
May 1, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28176850/application-of-machine-learning-models-to-predict-tacrolimus-stable-dose-in-renal-transplant-recipients
#6
Jie Tang, Rong Liu, Yue-Li Zhang, Mou-Ze Liu, Yong-Fang Hu, Ming-Jie Shao, Li-Jun Zhu, Hua-Wen Xin, Gui-Wen Feng, Wen-Jun Shang, Xiang-Guang Meng, Li-Rong Zhang, Ying-Zi Ming, Wei Zhang
Tacrolimus has a narrow therapeutic window and considerable variability in clinical use. Our goal was to compare the performance of multiple linear regression (MLR) and eight machine learning techniques in pharmacogenetic algorithm-based prediction of tacrolimus stable dose (TSD) in a large Chinese cohort. A total of 1,045 renal transplant patients were recruited, 80% of which were randomly selected as the "derivation cohort" to develop dose-prediction algorithm, while the remaining 20% constituted the "validation cohort" to test the final selected algorithm...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28176639/personalized-medicine-in-the-paediatric-population-the-balance-between-pharmacogenetics-progress-and-bioethics
#7
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/28151991/clinical-impact-of-pharmacogenetic-profiling-with-a-clinical-decision-support-tool-in-polypharmacy-home-health-patients-a-prospective-pilot-randomized-controlled-trial
#8
Lindsay S Elliott, John C Henderson, Moni B Neradilek, Nicolas A Moyer, Kristine C Ashcraft, Ranjit K Thirumaran
BACKGROUND: In polypharmacy patients under home health management, pharmacogenetic testing coupled with guidance from a clinical decision support tool (CDST) on reducing drug, gene, and cumulative interaction risk may provide valuable insights in prescription drug treatment, reducing re-hospitalization and emergency department (ED) visits. We assessed the clinical impact of pharmacogenetic profiling integrating binary and cumulative drug and gene interaction warnings on home health polypharmacy patients...
2017: PloS One
https://www.readbyqxmd.com/read/28150136/scamps-for-multimodal-post-operative-analgesia-a-concept-to-standardize-and-individualize-care
#9
REVIEW
Anair Beverly, Alan D Kaye, Richard D Urman
PURPOSE OF REVIEW: We discuss the challenges and strategies in delivering post-operative pain relief that is both standardized and individualized as appropriate. Post-operative pain remains under-treated and is frequently complicated by side effects. Guidelines for multimodal analgesia report varying strengths of evidence. Additionally, there are particular evidence gaps in establishing how individual and population subgroups responses vary, due to pharmacogenetic, metabolic, and psychological variation...
January 2017: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/28029011/clinical-pharmacogenetic-testing-and-application-laboratory-medicine-clinical-practice-guidelines
#10
Sollip Kim, Yeo Min Yun, Hyo Jin Chae, Hyun Jung Cho, Misuk Ji, In Suk Kim, Kyung A Wee, Woochang Lee, Sang Hoon Song, Hye In Woo, Soo Youn Lee, Sail Chun
Pharmacogenetic testing for clinical applications is steadily increasing. Correct and adequate use of pharmacogenetic tests is important to reduce unnecessary medical costs and adverse patient outcomes. This document contains recommended pharmacogenetic testing guidelines for clinical application, interpretation, and result reporting through a literature review and evidence-based expert opinions for the clinical pharmacogenetic testing covered by public medical insurance in Korea. This document aims to improve the utility of pharmacogenetic testing in routine clinical settings...
March 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/27864204/integrating-pharmacogenomics-into-electronic-health-records-with-clinical-decision-support
#11
J Kevin Hicks, Henry M Dunnenberger, Karl F Gumpper, Cyrine E Haidar, James M Hoffman
PURPOSE: Existing pharmacogenomic informatics models, key implementation steps, and emerging resources to facilitate the development of pharmacogenomic clinical decision support (CDS) are described. SUMMARY: Pharmacogenomics is an important component of precision medicine. Informatics, especially CDS in the electronic health record (EHR), is a critical tool for the integration of pharmacogenomics into routine patient care. Effective integration of pharmacogenomic CDS into the EHR can address implementation challenges, including the increasing volume of pharmacogenomic clinical knowledge, the enduring nature of pharmacogenomic test results, and the complexity of interpreting results...
December 1, 2016: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/27824309/-personalized-medicine-in-psychiatry-nightmare-of-the-industry
#12
Judit Lazary, Monika Elemery, Iren Csala, Gabor Faludi
Personalized medicine is a hot topic in the literature of the psychiatric field but it seems that regular clinical application of valid tests are awaited. Urgent requirement of objective tools for screening high-risk patients is postulated by prominent authors because long-term set up time, serious side effects or ineffectiveness of psychiatric agents mean a great challenge for clinicians to find optimal therapy on time. Unwanted suffering from inaccurate medicine, progression of the disorder and mistrust or in adherence of the patients are dramatic consequences of the delay of adequate therapy which is linked with irreversible health and mental damages and financial loss...
September 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/27692183/primary-care-providers-interest-in-using-a-genetic-test-to-guide-alcohol-use-disorder-treatment
#13
Emily C Williams, Jessica P Young, Carol E Achtmeyer, Christian S Hendershot
BACKGROUND: Efforts to identify genetic moderators of pharmacotherapy response have generated interest in clinical applications of pharmacogenetic tests in alcohol use disorder (AUD) treatment. To date, no research on providers' interest in using pharmacogenetic tests in the context of AUD treatment has been reported. We conducted qualitative interviews with primary care providers from 5 clinics in the Veterans Health Administration (VA) to assess their interest in using a hypothetical genetic test to inform treatment of AUD with pharmacotherapy...
November 2016: Journal of Substance Abuse Treatment
https://www.readbyqxmd.com/read/27686559/evaluating-genomic-dna-extraction-methods-from-human-whole-blood-using-endpoint-and-real-time-pcr-assays
#14
COMPARATIVE STUDY
Linda Koshy, A L Anju, S Harikrishnan, V R Kutty, V T Jissa, Irin Kurikesu, Parvathy Jayachandran, A Jayakumaran Nair, A Gangaprasad, G M Nair, P R Sudhakaran
The extraction of genomic DNA is the crucial first step in large-scale epidemiological studies. Though there are many popular DNA isolation methods from human whole blood, only a few reports have compared their efficiencies using both end-point and real-time PCR assays. Genomic DNA was extracted from coronary artery disease patients using solution-based conventional protocols such as the phenol-chloroform/proteinase-K method and a non-phenolic non-enzymatic Rapid-Method, which were evaluated and compared vis-a-vis a commercially available silica column-based Blood DNA isolation kit...
February 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/27630984/economic-evaluation-of-pharmacogenetic-tests-in-patients-subjected-to-renal-transplantation-a-review-of-literature
#15
REVIEW
Nemanja Rancic, Viktorija Dragojevic-Simic, Neven Vavic, Aleksandra Kovacevic, Zoran Segrt, Natasa Djordjevic
Renal transplantation is the treatment of choice for the patients with end-stage renal failure. Genetic factors, among others, can influence variability in response to immunosuppressive drugs. Nowadays, due to restrictive health resources, the question arises whether routine pharmacogenetic analyses should be done in the renal transplant recipients or not. The aim of this literature review was to present the up-to-date information considering the economic feasibility of pharmacogenetic testing in patients subjected to renal transplantation...
2016: Frontiers in Public Health
https://www.readbyqxmd.com/read/27603714/consensus-paper-of-the-wfsbp-task-force-on-genetics-genetics-epigenetics-and-gene-expression-markers-of-major-depressive-disorder-and-antidepressant-response
#16
Chiara Fabbri, Ladislav Hosak, Rainald Mössner, Ina Giegling, Laura Mandelli, Frank Bellivier, Stephan Claes, David A Collier, Alejo Corrales, Lynn E Delisi, Carla Gallo, Michael Gill, James L Kennedy, Marion Leboyer, Amanda Lisoway, Wolfgang Maier, Miguel Marquez, Isabelle Massat, Ole Mors, Pierandrea Muglia, Markus M Nöthen, Michael C O'Donovan, Jorge Ospina-Duque, Peter Propping, Yongyong Shi, David St Clair, Florence Thibaut, Sven Cichon, Julien Mendlewicz, Dan Rujescu, Alessandro Serretti
Major depressive disorder (MDD) is a heritable disease with a heavy personal and socio-economic burden. Antidepressants of different classes are prescribed to treat MDD, but reliable and reproducible markers of efficacy are not available for clinical use. Further complicating treatment, the diagnosis of MDD is not guided by objective criteria, resulting in the risk of under- or overtreatment. A number of markers of MDD and antidepressant response have been investigated at the genetic, epigenetic, gene expression and protein levels...
September 7, 2016: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/27573590/parental-perception-of-self-empowerment-in-pediatric-pharmacogenetic-testing-the-reactions-of-parents-to-the-communication-of-actual-and-hypothetical-cyp2d6-test-results
#17
Sarah Adelsperger, Cynthia A Prows, Melanie F Myers, Cassandra L Perry, Ariel Chandler, Ingrid A Holm, John A Lynch
Concerns about the ethical and social implications of genetics persist as more applications of genetic and genomic technology have become available. Pediatric testing for genetic influences on response to opioids like codeine is one area of application. We interviewed parents of children enrolled in a mixed-methods study following the communication of actual or hypothetical results for CYP2D6, which impacts opioid response. Forty-one parents of children naive to opioids and 42 parents of children previously exposed to opioids participated in qualitative interviews...
August 30, 2016: Health Communication
https://www.readbyqxmd.com/read/27499796/frequency-distribution-of-polymorphisms-of-cyp2c19-cyp2c9-vkorc1-and-slco1b1-genes-in-the-yakut-population
#18
Filipp Filippovich Vasilyev, Diana Aleksandrovna Danilova, Vladimir Sergeevich Kaimonov, Yana Valerievna Chertovskih, Nadezda Romanovna Maksimova
Allele frequencies of single nucleotide polymorphisms (SNPs) are variable among different populations; therefore the study of SNPs in ethnic groups is important for establishing the clinical significance of the screening of these polymorphisms. The main goal of the research is to study the polymorphisms of CYP2C9, CYP2C19, VKORC1, and SLCO1B1 in Yakuts. Genomic DNA from 229 Yakut subjects were analyzed by real-time polymerase chain reaction (PCR) (SLCO1B1 +521T > C, VKORC1 -1639G>A, CYP2C19 +681G>A, +636G>A, CYP2C9 +430С>T, +1075A>C)...
May 2016: Research in Pharmaceutical Sciences
https://www.readbyqxmd.com/read/27406232/cost-effectiveness-of-pharmacogenomic-and-pharmacogenetic-test-guided-personalized-therapies-a-systematic-review-of-the-approved-active-substances-for-personalized-medicine-in-germany
#19
REVIEW
Marika Plöthner, Dana Ribbentrop, Jan-Phillipp Hartman, Martin Frank
BACKGROUND: The use of targeted therapies has recently increased. Pharmacogenetic tests are a useful tool to guide patient treatment and to test a response before administering medicines. Pharmacogenetic tests can predict potential drug resistance and may be used for determining genotype-based drug dosage. However, their cost-effectiveness as a diagnostic tool is often debatable. In Germany, 47 active ingredients are currently approved. A prior predictive test is required for 39 of these and is recommended for eight...
September 2016: Advances in Therapy
https://www.readbyqxmd.com/read/27310483/progress-and-prospects-in-pharmacogenetics-of-antidepressant-drugs
#20
REVIEW
Chiara Fabbri, Concetta Crisafulli, Marco Calabrò, Edoardo Spina, Alessandro Serretti
INTRODUCTION: Depression is responsible for the most part of the personal and socio-economic burden due to psychiatric disorders. Since antidepressant response clusters in families, pharmacogenetics represents a meaningful tool to provide tailored treatments and improve the prognosis of depression. AREAS COVERED: This review aims to summarize and discuss the pharmacogenetics of antidepressant drugs in major depressive disorder, with a focus on the most replicated genes, genome-wide association studies (GWAS), but also on the findings provided by new and promising analysis methods...
October 2016: Expert Opinion on Drug Metabolism & Toxicology
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