keyword
https://read.qxmd.com/read/38423983/chapitre-5-from-individuals-to-social-the-needs-for-a-global-ethics-overview-in-pharmacogenomics
#21
JOURNAL ARTICLE
Anastasia Constantin, Alfonsina Faya Robles, Emmanuelle Rial-Sebbag
As a part of personalized medicine, pharmacogenomics (PGx) allows practitioners to provide the right drug for a given patient, in accordance with the result of a genetic test. This practice raises many ethical issues that are discussed in the literature, sometimes within the larger context of personalized medicine. This article is based on a literature review that is original insofar as it is interdisciplinary and based on an approach that articulates individual and social rights. Here, we propose to reconsider some classic ethical issues, such as informed consent, incidental findings and data protection which are raised by genetic testing and also by PGx in the same or in a different way...
2024: Journal International de Bioéthique et D'éthique des Sciences
https://read.qxmd.com/read/38416349/unveiling-the-future-precision-pharmacovigilance-in-the-era-of-personalized-medicine
#22
JOURNAL ARTICLE
Lurdes Silva, Teresa Pacheco, Emília Araújo, Rita J Duarte, Inês Ribeiro-Vaz, Renato Ferreira-da-Silva
In the era of personalized medicine, pharmacovigilance faces new challenges and opportunities, demanding a shift from traditional approaches. This article delves into the evolving landscape of drug safety monitoring in the context of personalized treatments. We aim to provide a succinct reflection on the intersection of tailored therapeutic strategies and vigilant pharmacovigilance practices. We discuss the integration of pharmacogenetics in enhancing drug safety, illustrating how genetic profiling aids in predicting drug responses and adverse reactions...
February 28, 2024: International Journal of Clinical Pharmacy
https://read.qxmd.com/read/38395906/lithium-response-in-bipolar-disorder-is-associated-with-focal-adhesion-and-pi3k-akt-networks-a-multi-omics-replication-study
#23
JOURNAL ARTICLE
Anna H Ou, Sara B Rosenthal, Mazda Adli, Kazufumi Akiyama, Nirmala Akula, Martin Alda, Azmeraw T Amare, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Michael Bauer, Bernhard T Baune, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Abesh Kumar Bhattacharjee, Joanna M Biernacka, Pablo Cervantes, Guo-Bo Chen, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Scott R Clark, Francesc Colom, David A Cousins, Cristiana Cruceanu, Piotr M Czerski, Clarissa R Dantas, Alexandre Dayer, Maria Del Zompo, Franziska Degenhardt, J Raymond DePaulo, Bruno Étain, Peter Falkai, Frederike Tabea Fellendorf, Ewa Ferensztajn-Rochowiak, Andreas J Forstner, Louise Frisén, Mark A Frye, Janice M Fullerton, Sébastien Gard, Julie S Garnham, Fernando S Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Oliver Gruber, Ryota Hashimoto, Joanna Hauser, Urs Heilbronner, Stefan Herms, Per Hoffmann, Andrea Hofmann, Liping Hou, Stephane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Tadafumi Kato, Sarah Kittel-Schneider, Barbara König, Po-Hsiu Kuo, Ichiro Kusumi, Nina Lackner, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G Leckband, Carlos A López Jaramillo, Glenda MacQueen, Mario Maj, Mirko Manchia, Cynthia Marie-Claire, Lina Martinsson, Manuel Mattheisen, Michael J McCarthy, Susan L McElroy, Francis J McMahon, Philip B Mitchell, Marina Mitjans, Francis M Mondimore, Palmiero Monteleone, Caroline M Nievergelt, Markus M Nöthen, Tomas Novák, Urban Ösby, Norio Ozaki, Sergi Papiol, Roy H Perlis, Claudia Pisanu, James B Potash, Andrea Pfennig, Daniela Reich-Erkelenz, Andreas Reif, Eva Z Reininghaus, Marcella Rietschel, Guy A Rouleau, Janusz K Rybakowski, Martin Schalling, Peter R Schofield, K Oliver Schubert, Thomas G Schulze, Barbara W Schweizer, Florian Seemüller, Giovanni Severino, Tatyana Shekhtman, Paul D Shilling, Kazutaka Shimoda, Christian Simhandl, Claire M Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Sarah K Tighe, Alfonso Tortorella, Gustavo Turecki, Eduard Vieta, Julia Volkert, Stephanie Witt, Naomi R Wray, Adam Wright, L Trevor Young, Peter P Zandi, John R Kelsoe
Lithium is the gold standard treatment for bipolar disorder (BD). However, its mechanism of action is incompletely understood, and prediction of treatment outcomes is limited. In our previous multi-omics study of the Pharmacogenomics of Bipolar Disorder (PGBD) sample combining transcriptomic and genomic data, we found that focal adhesion, the extracellular matrix (ECM), and PI3K-Akt signaling networks were associated with response to lithium. In this study, we replicated the results of our previous study using network propagation methods in a genome-wide association study of an independent sample of 2039 patients from the International Consortium on Lithium Genetics (ConLiGen) study...
February 23, 2024: Translational Psychiatry
https://read.qxmd.com/read/38372405/prevalence-of-cyp2d6-structural-variation-in-large-retrospective-study
#24
JOURNAL ARTICLE
Samantha Frear, Ashley Sherman, Don Rule, Lauren Ann Marcath
CYP2D6 is a highly polymorphic gene with clinically important structural variations. Commonly, only exon 9 is assayed on clinical pharmacogenomics panels, as it allows for accurate functional characterization even in the presence of a CYP2D6::CYP2D7 conversion. However, this method does not capture CYP2D7::CYP2D6 (CYP2D6*13) conversions, possibly leading to inaccurate phenotype assignment. The study's purpose was to determine the frequency of structural variations in CYP2D6 utilizing multiple copy number variation (CNV) assay locations to quantify the potential impact on clinical phenotype classification...
February 19, 2024: Pharmacogenetics and Genomics
https://read.qxmd.com/read/38371918/mmdrp-drug-response-prediction-and-biomarker-discovery-using-multi-modal-deep-learning
#25
JOURNAL ARTICLE
Farzan Taj, Lincoln D Stein
MOTIVATION: A major challenge in cancer care is that patients with similar demographics, tumor types, and medical histories can respond quite differently to the same drug regimens. This difference is largely explained by genetic and other molecular variabilities among the patients and their cancers. Efforts in the pharmacogenomics field are underway to understand better the relationship between the genome of the patient's healthy and tumor cells and their response to therapy. To advance this goal, research groups and consortia have undertaken large-scale systematic screening of panels of drugs across multiple cancer cell lines that have been molecularly profiled by genomics, proteomics, and similar techniques...
2024: Bioinform Adv
https://read.qxmd.com/read/38370334/natural-language-processing-for-radiation-oncology-personalizing-treatment-pathways
#26
REVIEW
Hui Lin, Lisa Ni, Christina Phuong, Julian C Hong
Natural language processing (NLP), a technology that translates human language into machine-readable data, is revolutionizing numerous sectors, including cancer care. This review outlines the evolution of NLP and its potential for crafting personalized treatment pathways for cancer patients. Leveraging NLP's ability to transform unstructured medical data into structured learnable formats, researchers can tap into the potential of big data for clinical and research applications. Significant advancements in NLP have spurred interest in developing tools that automate information extraction from clinical text, potentially transforming medical research and clinical practices in radiation oncology...
2024: Pharmacogenomics and Personalized Medicine
https://read.qxmd.com/read/38364700/clinical-implementation-of-preemptive-pharmacogenomics-in-psychiatry
#27
JOURNAL ARTICLE
Maria Skokou, Kariofyllis Karamperis, Margarita-Ioanna Koufaki, Evangelia-Eirini Tsermpini, Maria-Theodora Pandi, Stavroula Siamoglou, Panagiotis Ferentinos, Marina Bartsakoulia, Theodora Katsila, Christina Mitropoulou, George P Patrinos
BACKGROUND: Pharmacogenomics (PGx) holds promise to revolutionize modern healthcare. Although there are several prospective clinical studies in oncology and cardiology, demonstrating a beneficial effect of PGx-guided treatment in reducing adverse drug reactions, there are very few such studies in psychiatry, none of which spans across all main psychiatric indications, namely schizophrenia, major depressive disorder and bipolar disorder. In this study we aim to investigate the clinical effectiveness of PGx-guided treatment (occurrence of adverse drug reactions, hospitalisations and re-admissions, polypharmacy) and perform a cost analysis of the intervention...
February 15, 2024: EBioMedicine
https://read.qxmd.com/read/38359167/pharmacogenomic-allele-coverage-of-genome-wide-genotyping-arrays-a-comparative-analysis
#28
JOURNAL ARTICLE
Courtney Lenz, Ankita Narang, Chad A Bousman
The use of genome-wide genotyping arrays in pharmacogenomics (PGx) research and clinical implementation applications is increasing but it is unclear which arrays are best suited for these applications. Here, we conduct a comparative coverage analysis of PGx alleles included on genome-wide genotyping arrays, with an emphasis on alleles in genes with PGx-based prescribing guidelines. Genomic manifest files for seven arrays including the Axiom Precision Medicine Diversity Array (PMDA), Axiom PMDA Plus, Axiom PangenomiX, Axiom PangenomiX Plus, Infinium Global Screening Array, Infinium Global Diversity Array (GDA) and Infinium GDA with enhanced PGx (GDA-PGx) Array, were evaluated for coverage of 523 star alleles across 19 pharmacogenes included in prescribing guidelines developed by the Clinical Pharmacogenetic Implementation Consortium and Dutch Pharmacogenomics Working Group...
February 8, 2024: Pharmacogenetics and Genomics
https://read.qxmd.com/read/38346976/haplotype-phasing-of-cyp2d6-an-allelic-ratio-method-using-agena-massarray-data
#29
JOURNAL ARTICLE
Megana Thamilselvan, Cheryl Mather, Yabing Wang, Jerome C Foo, Katherine J Aitchison
Pharmacogenomics aims to use the genetic information of an individual to personalize drug prescribing. There is evidence that pharmacogenomic testing before prescription may prevent adverse drug reactions, increase efficacy, and reduce cost of treatment. CYP2D6 is a key pharmacogene of relevance to multiple therapeutic areas. Indeed, there are prescribing guidelines available for medications based on CYP2D6 enzyme activity as deduced from CYP2D6 genetic data. The Agena MassARRAY system is a cost-effective method of detecting genetic variation that has been clinically applied to other genes...
February 12, 2024: Translational Psychiatry
https://read.qxmd.com/read/38340730/a-continuous-epistasis-model-for-predicting-growth-rate-given-combinatorial-variation-in-gene-expression-and-environment
#30
JOURNAL ARTICLE
Ryan M Otto, Agata Turska-Nowak, Philip M Brown, Kimberly A Reynolds
Quantifying and predicting growth rate phenotype given variation in gene expression and environment is complicated by epistatic interactions and the vast combinatorial space of possible perturbations. We developed an approach for mapping expression-growth rate landscapes that integrates sparsely sampled experimental measurements with an interpretable machine learning model. We used mismatch CRISPRi across pairs and triples of genes to create over 8,000 titrated changes in E. coli gene expression under varied environmental contexts, exploring epistasis in up to 22 distinct environments...
February 5, 2024: Cell Systems
https://read.qxmd.com/read/38340605/current-level-of-evidence-for-improvement-of-antidepressant-efficacy-and-tolerability-by-pharmacogenomic-guided-treatment-a-systematic-review-and-meta-analysis-of-randomized-controlled-clinical-trials
#31
JOURNAL ARTICLE
Filip Milosavljević, Prof Espen Molden, Prof Magnus Ingelman-Sundberg, Assoc Prof Marin M Jukić
The aim of the study was to assess the clinical utility of currently available pharmacogenomic (PGx) tools compared with treatment as usual (TAU), using a meta-analysis of dichotomous and continuous antidepressant efficacy and tolerability data from previously published clinical trials. MEDLINE, clinicaltrial.gov, EU Clinical Trials Register, WHO ICTRP and CENTRAL were systematically searched; of the 962 results originally reviewed, 15 trials were included. Antidepressant efficacy was quantified by relative and absolute changes in symptom severity after eight weeks of treatment and by response and remission rates, while tolerability was estimated by the rate of study discontinuation for any reason...
February 9, 2024: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://read.qxmd.com/read/38336232/implementation-of-depression-management-by-ambulatory-care-pharmacists-in-the-primary-care-setting
#32
JOURNAL ARTICLE
Katherine F Brown, Katherine A Curtis, Megan M Kline, Rachael A Hiday
OBJECTIVES: In the United States, depression is one of the most common mental health disorders. Ambulatory care pharmacists play a critical role in assisting with medication and dosage selection, identifying and managing drug interactions and adverse effects, and increasing medication adherence. Existing data on depression management by ambulatory care pharmacists trained in primary care is limited and outdated. This study provides insight into current practices for depression management by primary care pharmacy specialists within an academic health center and how pharmacist interventions may impact functional outcomes of depression...
February 7, 2024: Journal of the American Pharmacists Association: JAPhA
https://read.qxmd.com/read/38332855/pharmacogenomic-analysis-of-cyp3a5-3-and-tacrolimus-trough-concentrations-in-vietnamese-renal-transplant-outcomes
#33
JOURNAL ARTICLE
Thi Van Anh Nguyen, Ba Hai Le, Minh Thanh Nguyen, Viet Thang Le, Viet Tien Tran, Dinh Tuan Le, Duong Anh Minh Vu, Quy Kien Truong, Trong Hieu Le, Huong Thi Lien Nguyen
PURPOSE: CYP3A5 polymorphisms have been associated with variations in the pharmacokinetics of tacrolimus (Tac) in kidney transplant patients. Our study aims to quantify how the CYP3A5 genotype influences tacrolimus trough concentrations (C0 ) in a Vietnamese outpatient population by selecting an appropriate population pharmacokinetic model of Tac for our patients. PATIENTS AND METHODS: The external dataset was obtained prospectively from 54 data of adult kidney transplant recipients treated at the 103 Military Hospital...
2024: Pharmacogenomics and Personalized Medicine
https://read.qxmd.com/read/38332460/determinants-of-early-change-in-serum-creatinine-after-initiation-of-dolutegravir-based-antiretroviral-therapy-in-south-africa
#34
JOURNAL ARTICLE
Rephaim Mpofu, Aida N Kawuma, Roeland E Wasmann, Godspower Akpomiemie, Nomathemba Chandiwana, Simiso Mandisa Sokhela, Michelle Moorhouse, Willem Daniel Francois Venter, Paolo Denti, Lubbe Wiesner, Frank A Post, David W Haas, Gary Maartens, Phumla Sinxadi
AIMS: Dolutegravir increases serum creatinine by inhibiting its renal tubular secretion and elimination. We investigated determinants of early changes in serum creatinine in a southern African cohort starting first-line dolutegravir-based antiretroviral therapy (ART). METHODS: We conducted a secondary analysis of data from participants in a randomized controlled trial of dolutegravir, emtricitabine and tenofovir disoproxil fumarate (TDF) or tenofovir alafenamide fumarate (TAF) (ADVANCE, NCT03122262)...
February 8, 2024: British Journal of Clinical Pharmacology
https://read.qxmd.com/read/38331197/a-scoping-review-of-pharmacogenomic-educational-interventions-to-improve-knowledge-and-confidence
#35
REVIEW
Ruby Soueid, Toni J F Michael, Rose Cairns, Kellie A Charles, Sophie L Stocker
OBJECTIVE: Poor knowledge and confidence in pharmacogenomics are key barriers to implementation. Education of future healthcare professionals is required to enhance appropriate use of pharmacogenomics, however, the optimal education approach is unclear. This systematic scoping review evaluates pharmacogenomic educational interventions to improve knowledge and confidence. FINDINGS: A total of 24 studies were included. Most (90%) studies delivered pharmacogenomic education to pharmacy students and consisted of didactic lectures and workshops with case studies...
February 6, 2024: American Journal of Pharmaceutical Education
https://read.qxmd.com/read/38329943/optimizing-pharmacogenomic-decision-making-by-data-science
#36
JOURNAL ARTICLE
Amir M Behdani, Jessica Lai, Christina Kim, Lama Basalelah, Trey Halsey, Krista L Donohoe, Dayanjan Wijesinghe
Healthcare systems have made rapid progress towards combining data science with precision medicine, particularly in pharmacogenomics. With the lack of predictability in medication effectiveness from patient to patient, acquiring the specifics of their genotype would be highly advantageous for patient treatment. Genotype-guided dosing adjustment improves clinical decision-making and helps optimize doses to deliver medications with greater efficacy and within safe margins. Current databases demand extensive effort to locate relevant genetic dosing information...
February 2024: PLOS Digit Health
https://read.qxmd.com/read/38313864/patients-experiences-of-a-precision-medicine-clinic
#37
JOURNAL ARTICLE
David Barrett, Jovana Sibalija, Richard B Kim
The purpose of this study is to provide an overview of patients' experiences using a precision medicine (PM) clinic that conducts pharmacogenomics-based (PGx) testing for adverse drug reactions. The study aimed to identify the features of the clinic valued most by patients and areas for improvement. A paper survey was used to collect data. Survey questions focused on patients' perceptions of the PM testing and the overall clinic experience. Sixty-seven patients completed the survey. Quantitative data were analyzed using SPSS and frequencies were reported...
2024: Journal of Patient Experience
https://read.qxmd.com/read/38310750/rare-variants-in-pharmacogenes-influence-clozapine-metabolism-in-individuals-with-schizophrenia
#38
JOURNAL ARTICLE
Djenifer B Kappel, Elliott Rees, Eilidh Fenner, Adrian King, John Jansen, Marinka Helthuis, Michael J Owen, Michael C O'Donovan, James T R Walters, Antonio F Pardiñas
Clozapine is the only licensed medication for treatment-resistant schizophrenia (TRS). Few predictors for variation in response to clozapine have been identified, but clozapine metabolism is known to influence therapeutic response and adverse side effects. Here, we expand on genome-wide studies of clozapine metabolism, previously focused on common genetic variation, by analysing whole-exome sequencing data from 2062 individuals with schizophrenia taking clozapine in the UK. We investigated whether rare genomic variation in genes and gene sets involved in the clozapine metabolism pathway influences plasma concentrations of clozapine metabolites, assessed through the longitudinal analysis of 6585 pharmacokinetic assays...
February 3, 2024: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://read.qxmd.com/read/38299552/-in-silico-approaches-to-assessing-multiple-high-level-drug-drug-and-drug-disease-adverse-drug-effects
#39
REVIEW
Xuan Xu, Jim E Riviere, Shahzad Raza, Nuwan Indika Millagaha Gedara, Remya Ampadi Ramachandran, Lisa A Tell, Gerald J Wyckoff, Majid Jaberi-Douraki
INTRODUCTION: Pharmacovigilance plays a pivotal role in monitoring adverse events (AEs) related to chemical substances in human/animal populations. With increasing spontaneous-reporting systems, researchers turned to in-silico approaches to efficiently analyze drug safety profiles. Here, we review in-silico methods employed for assessing multiple drug-drug/drug-disease AEs covered by comparative analyses and visualization strategies. AREAS COVERED: Disproportionality, involving multi-stage statistical methodologies and data processing, identifies safety signals among drug-AE pairs...
February 1, 2024: Expert Opinion on Drug Metabolism & Toxicology
https://read.qxmd.com/read/38291455/investigation-of-community-pharmacists-knowledge-and-attitudes-of-pharmacogenomics-testing-implication-for-improved-pharmacogenomic-testing-practice
#40
JOURNAL ARTICLE
Azza Ramadan, Anan S Jarab, Ahmad Z Al Meslamani
BACKGROUND: Community pharmacists must be well-equipped to advance pharmacogenomics services. Nevertheless, limited data is available regarding pharmacists' knowledge and attitudes toward pharmacogenomics testing. The present study aimed to evaluate community pharmacists' knowledge and attitudes toward pharmacogenomics testing in the UAE. METHODS: In this cross-sectional study, a validated, online, self-administered survey, was randomly distributed to community pharmacists across the United Arab Emirates (UAE)...
January 30, 2024: Human Genomics
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