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Cost-utility analysis of pharmacogenomics-guided tacrolimus treatment in Austrian kidney transplant recipients participating in the U-PGx PREPARE study Pharmacogenomics J. (IF 2.8) Pub Date : 2024-03-18 Vasileios Fragoulakis, Margarita-Ioanna Koufaki, Candace Joefield-Roka, Gere Sunder-Plassmann, Christina Mitropoulou
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A review of real-world evidence on preemptive pharmacogenomic testing for preventing adverse drug reactions: a reality for future health care Pharmacogenomics J. (IF 2.8) Pub Date : 2024-03-15 Santenna Chenchula, Shubham Atal, Chakradhara Rao S Uppugunduri
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Network pharmacology prediction, molecular docking and in vitro experiment explored the potential mechanism of Gaoyuan’an capsule in improving hypoxia tolerance Pharmacogenomics J. (IF 2.8) Pub Date : 2024-03-14 Tianbo Jin, Xiaoli Liu, Yuhe Wang, Yijin Qi, Xuemei Li, Li Wang, Xue He
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Being precise with anticoagulation to reduce adverse drug reactions: are we there yet? Pharmacogenomics J. (IF 2.8) Pub Date : 2024-03-05 Benjamin Cross, Richard M. Turner, J. Eunice Zhang, Munir Pirmohamed
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Pharmacogenetic and clinical risk factors for bevacizumab-related gastrointestinal hemorrhage in prostate cancer patients treated on CALGB 90401 (Alliance) Pharmacogenomics J. (IF 2.8) Pub Date : 2024-03-04 Jai N. Patel, Chen Jiang, Kouros Owzar, Daniel L. Hertz, Janey Wang, Flora A. Mulkey, William K. Kelly, Susan Halabi, Yoichi Furukawa, Cameron Lassiter, Susan G. Dorsey, Paula N. Friedman, Eric J. Small, Michael A. Carducci, Michael J. Kelley, Yusuke Nakamura, Michiaki Kubo, Mark J. Ratain, Michael J. Morris, Howard L. McLeod
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Upregulation of p300 in paclitaxel-resistant TNBC: implications for cell proliferation via the PCK1/AMPK axis Pharmacogenomics J. (IF 2.8) Pub Date : 2024-02-20 Peng-Wei Zhao, Jia-Xian Cui, Xiu-Mei Wang
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Composite CYP3A (CYP3A4 and CYP3A5) phenotypes and influence on tacrolimus dose adjusted concentrations in adult heart transplant recipients Pharmacogenomics J. (IF 2.8) Pub Date : 2024-02-15 Michelle Liu, Savine Hernandez, Christina L. Aquilante, Kimberly M. Deininger, Joann Lindenfeld, Kelly H. Schlendorf, Sara L. Van Driest
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The pharmacogenetics of tacrolimus in renal transplant patients: association with tremors, new-onset diabetes and other clinical events Pharmacogenomics J. (IF 2.8) Pub Date : 2024-01-22 Amani Abderahmene, Yassine khalij, Amira Moussa, Meriam Ammar, Amel Ellouz, Dorra Amor, Houwaida Abbes, Mohamed Rayen Ganouni, Wissal Sahtout, Saoussen Chouchene, Asma omezzine, Dorsaf zellama, Ali Bouslama
Our study is the first study to investigate the effect of SNPs in CYP3A5, CYP3A4, ABCB1 and POR genes on the incidence of tremors, nephrotoxicity, and diabetes mellitus. A total of 223 renal transplant patients receiving tacrolimus and mycophenolate mofetil (MMF) were recruited. Both adults and children patients participated in the study. Genotyping was performed using PROFLEX-PCR followed by RFLP
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Pharmacogenomic biomarker information on drug labels of the Spanish Agency of Medicines and Sanitary products: evaluation and comparison with other regulatory agencies Pharmacogenomics J. (IF 2.8) Pub Date : 2024-01-17 María Estévez-Paredes, M. Carmen Mata-Martín, Fernando de Andrés, Adrián LLerena
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Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity Pharmacogenomics J. (IF 2.8) Pub Date : 2024-01-12 Romain Larrue, Sandy Fellah, Benjamin Hennart, Naoual Sabaouni, Nihad Boukrout, Cynthia Van der Hauwaert, Clément Delage, Meyling Cheok, Michaël Perrais, Christelle Cauffiez, Delphine Allorge, Nicolas Pottier
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Cytochrome P450-2D6 activity in people with codeine use disorder Pharmacogenomics J. (IF 2.8) Pub Date : 2023-11-09 Mark R. C. Daglish, Sarah R. Reilly, Sam Mostafa, Cameron Edwards, Thomas M. O’Gorman, Jeremy S. Hayllar
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A software tool to adjust codeine dose based on CYP2D6 gene-pair polymorphisms and drug-drug interactions Pharmacogenomics J. (IF 2.8) Pub Date : 2023-11-09 Yolande Saab, Zahi Nakad
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Pharmacogenetic and clinical predictors of voriconazole concentration in hematopoietic stem cell transplant recipients receiving CYP2C19-guided dosing Pharmacogenomics J. (IF 2.8) Pub Date : 2023-11-04 Jai N. Patel, Myra Robinson, Sarah A. Morris, Elizabeth Jandrisevits, Karine Eboli Lopes, Alicia Hamilton, Nury Steuerwald, Lawrence J. Druhan, Belinda Avalos, Edward Copelan, Nilanjan Ghosh, Michael R. Grunwald
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British South Asian ancestry participants views of pharmacogenomics clinical implementation and research: a thematic analysis Pharmacogenomics J. (IF 2.8) Pub Date : 2023-11-01 Emma F. Magavern, Faiza Durrani, Mehru Raza, Robin Lerner, Mohammed Riadul Islam, Megan Clinch, Mark J. Caulfield
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Using ChatGPT to predict the future of personalized medicine Pharmacogenomics J. (IF 2.8) Pub Date : 2023-09-19 George P. Patrinos, Negar Sarhangi, Behnaz Sarrami, Nazli Khodayari, Bagher Larijani, Mandana Hasanzad
Personalized medicine is a novel frontier in health care that is based on each person’s unique genetic makeup. It represents an exciting opportunity to improve the future of individualized health care for all individuals. Pharmacogenomics, as the main part of personalized medicine, aims to optimize and create a more targeted treatment approach based on genetic variations in drug response. It is predicted
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The INGENIOUS trial: Impact of pharmacogenetic testing on adverse events in a pragmatic clinical trial Pharmacogenomics J. (IF 2.8) Pub Date : 2023-09-09 Michael T. Eadon, Marc B. Rosenman, Pengyue Zhang, Cathy R. Fulton, John T. Callaghan, Ann M. Holmes, Kenneth D. Levy, Samir K. Gupta, David M. Haas, Raj Vuppalanchi, Eric A. Benson, Rolf P. Kreutz, Emma M. Tillman, Tyler Shugg, Rebecca C. Pierson, Brandon T. Gufford, Victoria M. Pratt, Yong Zang, Zeruesenay Desta, Paul R. Dexter, Todd C. Skaar
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Assessment of clinically actionable pharmacogenetic markers to stratify anti-seizure medications Pharmacogenomics J. (IF 2.8) Pub Date : 2023-08-26 Debleena Guin, Yasha Hasija, Ritushree Kukreti
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Genome-wide association study on pharmacological outcomes of musculoskeletal pain in UK Biobank Pharmacogenomics J. (IF 2.8) Pub Date : 2023-08-16 Song Li, Geert Poelmans, Regina L. M. van Boekel, Marieke J. H. Coenen
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HLA-DQA1*05 and upstream variants of PPARGC1B are associated with infliximab persistence in Japanese Crohn’s disease patients Pharmacogenomics J. (IF 2.8) Pub Date : 2023-07-17 Fumiko Shimoda, Takeo Naito, Yoichi Kakuta, Yosuke Kawai, Katsushi Tokunaga, Yusuke Shimoyama, Rintaro Moroi, Hisashi Shiga, Masao Nagasaki, Yoshitaka Kinouchi, Atsushi Masamune
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SLCO1B1*5 is protective against non-senile cataracts in cohort prescribed statins: analysis in a British-South Asian cohort Pharmacogenomics J. (IF 2.8) Pub Date : 2023-05-23 Emma F. Magavern, David A. van Heel, Damian Smedley, Mark J. Caulfield
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Association between functional FCGR3A F158V and FCGR2A R131H polymorphisms and responsiveness to rituximab in patients with autoimmune diseases: a meta-analysis Pharmacogenomics J. (IF 2.8) Pub Date : 2023-05-06 Young Ho Lee, Gwan Gyu Song
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Knowledge and attitudes of medical and pharmacy students about pharmacogenomics: a systematic review and meta-analysis Pharmacogenomics J. (IF 2.8) Pub Date : 2023-05-04 Chen Li, Xiaona Su, Qidi Sun, Yi Huang
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DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship? Pharmacogenomics J. (IF 2.8) Pub Date : 2023-05-03 Tekla Harju, Anri Hurme-Niiranen, Maria Suo-Palosaari, Stine Nygaard Nielsen, Reetta Hinttala, Kjeld Schmiegelow, Johanna Uusimaa, Arja Harila, Riitta Niinimäki
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Polygenic risk scores analyses of psychiatric and metabolic traits with antipsychotic-induced weight gain in schizophrenia: an exploratory study Pharmacogenomics J. (IF 2.8) Pub Date : 2023-04-27 Kazunari Yoshida, Victoria S. Marshe, Samar S. M. Elsheikh, Malgorzata Maciukiewicz, Arun K. Tiwari, Eva J. Brandl, Jeffrey A. Lieberman, Herbert Y. Meltzer, James L. Kennedy, Daniel J. Müller
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One year of experience with combined pharmacokinetic/pharmacogenetic monitoring of anti-TNF alpha agents: a retrospective study Pharmacogenomics J. (IF 2.8) Pub Date : 2023-04-04 Stefania Cheli, Diego Savino, Annalisa De Silvestri, Lorenzo Norsa, Naire Sansotta, Francesca Penagini, Dario Dilillo, Roberto Panceri, Dario Cattaneo, Emilio Clementi, Giovanna Zuin
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Non-steroidal anti-inflammatory drug target gene associations with major depressive disorders: a Mendelian randomisation study integrating GWAS, eQTL and mQTL Data Pharmacogenomics J. (IF 2.8) Pub Date : 2023-03-25 Qian He, Kevin Chun Hei Wu, Adam N. Bennett, Beifang Fan, Jundong Liu, Ruixuan Huang, Alice P. S. Kong, Xiaoyu Tian, Man Ki Maggie Kwok, Kei Hang Katie Chan
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The expression level of Neuronal Calcium Sensor 1 can predict the prognosis of cytogenetically normal AML Pharmacogenomics J. (IF 2.8) Pub Date : 2023-03-14 Weilong Zhang, Jing Wang, Wei Li, Xiaoni Liu, Yali Zhao, Ping Yang, Mingxia Zhu, Kai Hu, Shaoxiang Li, Gehong Dong, Changjian Yan, Xue He, Xiuru Zhang, Hongmei Jing
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Targeted next-generation sequencing of genes involved in Warfarin Pharmacodynamics and pharmacokinetics pathways using the Saudi Warfarin Pharmacogenetic study (SWAP) Pharmacogenomics J. (IF 2.8) Pub Date : 2023-02-04 Maha Al Ammari, Bader Almuzzaini, Khalid Al Sulaiman, Mohammed AlBalwi, Khizra Sultana, Ibrahim B. Alabdulkareem, Nada S. Almakhlafi, Anoud Al Humoud, Mohammed Waheeby, Munee Balla, Asma Al Shehri, Adel Alharf, Jahad Alghamdi
Background Warfarin is an oral anticoagulant commonly used for treatment and prophylaxis against thromboembolic events. Warfarins’s narrow therapeutic index window is one of the main challenges in clinical practice; thus, it requires frequent monitoring and dose adjustment to maintain patients’ therapeutic range. Warfarin dose variation and response are attributed to several inter-and intra-individuals
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Sequencing of genes of drug response in tumor DNA and implications for precision medicine in cancer patients Pharmacogenomics J. (IF 2.8) Pub Date : 2023-01-28 Nancy Gillis, Amy S. Etheridge, Sushant A. Patil, D. Neil Hayes, Michele C. Hayward, J. Todd Auman, Joel S. Parker, Federico Innocenti
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Investigating genetic variants for treatment response to selective serotonin reuptake inhibitors in syndromal factors and side effects among patients with depression in Taiwanese Han population Pharmacogenomics J. (IF 2.8) Pub Date : 2023-01-19 Shiau-Shian Huang, Yi-Ting Chen, Mei-Hsin Su, Shih-Jen Tsai, Hsi-Han Chen, Albert C. Yang, Yu-Li Liu, Po-Hsiu Kuo
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Bioinformatics driven discovery of small molecule compounds that modulate the FOXM1 and PPARA pathway activities in breast cancer Pharmacogenomics J. (IF 2.8) Pub Date : 2022-11-24 Shujun Huang, Pingzhao Hu, Ted M. Lakowski
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The organoid as reliable cancer modeling in personalized medicine, does applicable in precision medicine of head and neck squamous cell carcinoma? Pharmacogenomics J. (IF 2.8) Pub Date : 2022-11-08 Alieh Farshbaf, Malihe Lotfi, Reza Zare, Nooshin Mohtasham
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Effect of CYP2C19 polymorphisms on antidepressant prescription patterns and treatment emergent mania in bipolar disorder Pharmacogenomics J. (IF 2.8) Pub Date : 2022-11-04 Erik Joas, Lina Jonsson, Alexander Viktorin, Erik Smedler, Erik Pålsson, Guy M. Goodwin, Mikael Landén
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Clinical utility of pharmacogenetics in a psychiatric and primary care population Pharmacogenomics J. (IF 2.8) Pub Date : 2022-10-27 Krista N. Bohlen, Julie M. Kittelsrud, Morgan E. Nelson, Lisa K. Weisser, Neil J. Matthiesen, Julie A. Fieldsend, Nicholas B. Buschette, Leslie L. Cooper, Gareth E. Davies, Erik A. Ehli
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Meta-analysis of pharmacogenetic clinical decision support systems for the treatment of major depressive disorder Pharmacogenomics J. (IF 2.8) Pub Date : 2022-10-22 Valentin Skryabin, Ilya Rozochkin, Mikhail Zastrozhin, Volker Lauschke, Johan Franck, Evgeny Bryun, Dmitry Sychev
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Influence of UGT1A1 and SLC22A6 polymorphisms on the population pharmacokinetics and pharmacodynamics of raltegravir in HIV-infected adults: a NEAT001/ANRS143 sub-study Pharmacogenomics J. (IF 2.8) Pub Date : 2022-10-20 Rohan Gurjar, Laura Dickinson, Daniel Carr, Wolfgang Stöhr, Stefano Bonora, Andrew Owen, Antonio D’Avolio, Adam Cursley, Nathalie De Castro, Gerd Fätkenheuer, Linos Vandekerckhove, Giovanni Di Perri, Anton Pozniak, Christine Schwimmer, François Raffi, Marta Boffito
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Do genetics contribute to TNF inhibitor response prediction in Psoriatic Arthritis? Pharmacogenomics J. (IF 2.8) Pub Date : 2022-10-15 Philippa D. K. Curry, Andrew P. Morris, Anne Barton, James Bluett
Psoriatic arthritis (PsA) is a heterogeneous chronic musculoskeletal disease, affecting up to 30% of people with psoriasis. Research into PsA pathogenesis has led to the development of targeted therapies, including Tumor Necrosis Factor inhibitors (TNF-i). Good response is only achieved by ~60% of patients leading to ‘trial and error’ drug management approaches, adverse reactions and increasing healthcare
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Protein network and pathway analysis in a pharmacogenetic study of cyclosporine treatment response in Greek patients with psoriasis Pharmacogenomics J. (IF 2.8) Pub Date : 2022-10-13 Charalabos Antonatos, Aikaterini Patsatsi, Efterpi Zafiriou, Eleana F. Stavrou, Andreas Liaropoulos, Aikaterini Kyriakoy, Evangelos Evangelou, Danai Digka, Angeliki Roussaki-Schulze, Dimitris Sotiriadis, Sophia Georgiou, Katerina Grafanaki, Nicholas Κ. Moschonas, Yiannis Vasilopoulos
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Drug genetic associations with COVID-19 manifestations: a data mining and network biology approach Pharmacogenomics J. (IF 2.8) Pub Date : 2022-09-28 Theodosia Charitou, Panagiota I. Kontou, Ioannis A. Tamposis, Georgios A. Pavlopoulos, Georgia G. Braliou, Pantelis G. Bagos
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Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data. Pharmacogenomics J. (IF 2.8) Pub Date : 2022-12-01 Xiao Chen,Fei Shen,Nina Gonzaludo,Alka Malhotra,Cande Rogert,Ryan J Taft,David R Bentley,Michael A Eberle
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The genetic landscape of major drug metabolizing cytochrome P450 genes—an updated analysis of population-scale sequencing data Pharmacogenomics J. (IF 2.8) Pub Date : 2022-09-06 Yitian Zhou, Volker M. Lauschke
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Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data Pharmacogenomics J. (IF 2.8) Pub Date : 2022-08-13 Alireza Tafazoli, Maaike van der Lee, Jesse J. Swen, Anna Zeller, Natalia Wawrusiewicz-Kurylonek, Hailiang Mei, Ruben H. P. Vorderman, Krzysztof Konopko, Andrzej Zankiewicz, Wojciech Miltyk
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A blockchain-based framework to support pharmacogenetic data sharing Pharmacogenomics J. (IF 2.8) Pub Date : 2022-07-22 F. Albalwy, J. H. McDermott, W. G. Newman, A. Brass, A. Davies
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The clinically relevant CYP2C8*3 and CYP2C9*2 haplotype is inherited from Neandertals Pharmacogenomics J. (IF 2.8) Pub Date : 2022-07-02 Sigrid Haeggström, Magnus Ingelman-Sundberg, Svante Pääbo, Hugo Zeberg
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A machine learning model using SNPs obtained from a genome-wide association study predicts the onset of vincristine-induced peripheral neuropathy Pharmacogenomics J. (IF 2.8) Pub Date : 2022-06-25 Hiroki Yamada, Rio Ohmori, Naoto Okada, Shingen Nakamura, Kumiko Kagawa, Shiro Fujii, Hirokazu Miki, Keisuke Ishizawa, Masahiro Abe, Youichi Sato
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miRNAs as potential diagnostic biomarkers and pharmacogenomic indicators in psychiatric disorders Pharmacogenomics J. (IF 2.8) Pub Date : 2022-06-20 Evangelia Eirini Tsermpini, Christina I. Kalogirou, George C. Kyriakopoulos, George P. Patrinos, Constantinos Stathopoulos
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Pharmacogenomics of Clozapine-induced agranulocytosis: a systematic review and meta-analysis Pharmacogenomics J. (IF 2.8) Pub Date : 2022-06-16 Farhana Islam, Daniel Hain, David Lewis, Rebecca Law, Lisa C. Brown, Julie-Anne Tanner, Daniel J. Müller
Although clozapine is the most effective pharmacotherapy for treatment-resistant schizophrenia, it is under-utilized, and initiation is often delayed. One reason is the occurrence of a potentially fatal adverse reaction, clozapine-induced agranulocytosis (CIA). Identifying genetic variations contributing to CIA would help predict patient risk of developing CIA and personalize treatment. Here, we (1)
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Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients Pharmacogenomics J. (IF 2.8) Pub Date : 2022-05-19 Simon Verdez, Quentin Thomas, Philippine Garret, Céline Verstuyft, Emilie Tisserant, Antonio Vitobello, Frédéric Tran Mau-Them, Christophe Philippe, Marc Bardou, Maxime Luu, Abderrahmane Bourredjem, Patrick Callier, Christel Thauvin-Robinet, Nicolas Picard, Laurence Faivre, Yannis Duffourd
Beyond the identification of causal genetic variants in the diagnosis of Mendelian disorders, exome sequencing can detect numerous variants with potential relevance for clinical care. Clinical interventions can thus be conducted to improve future health outcomes for patients and their at-risk relatives, such as predicting late-onset genetic disorders accessible to prevention, treatment or identifying
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KDR genetic predictor of toxicities induced by sorafenib and regorafenib Pharmacogenomics J. (IF 2.8) Pub Date : 2022-04-28 Julia C. F. Quintanilha, Susan Geyer, Amy S. Etheridge, Alessandro Racioppi, Kelli Hammond, Daniel J. Crona, Carol E. Peña, Sawyer B. Jacobson, Federica Marmorino, Daniele Rossini, Chiara Cremolini, Hanna K. Sanoff, Ghassan K. Abou-Alfa, Federico Innocenti
Abstract No biomarkers are available to predict toxicities induced by VEGFR TKIs. This study aimed to identify markers of toxicities induced by these drugs using a discovery-validation approach. The discovery set included 140 sorafenib-treated cancer patients (TARGET study) genotyped for SNPs in 56 genes. The most significant SNPs associated with grade ≥2 hypertension, diarrhea, dermatologic toxicities
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Whole-genome sequencing analysis of clozapine-induced myocarditis Pharmacogenomics J. (IF 2.8) Pub Date : 2022-04-23 Ankita Narang, Paul Lacaze, Kathlyn J. Ronaldson, John J. McNeil, Mahesh Jayaram, Naveen Thomas, Rory Sellmer, David N. Crockford, Robert Stowe, Steven C. Greenway, Christos Pantelis, Chad A. Bousman
One of the concerns limiting the use of clozapine in schizophrenia treatment is the risk of rare but potentially fatal myocarditis. Our previous genome-wide association study and human leucocyte antigen analyses identified putative loci associated with clozapine-induced myocarditis. However, the contribution of DNA variation in cytochrome P450 genes, copy number variants and rare deleterious variants
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Point of care CYP2C19 genotyping after percutaneous coronary intervention Pharmacogenomics J. (IF 2.8) Pub Date : 2022-04-21 Linnea M. Baudhuin, Laura J. Train, Shaun G. Goodman, Gary E. Lane, Ryan J. Lennon, Verghese Mathew, Vishakantha Murthy, Tamim M. Nazif, Derek Y. F. So, John P. Sweeney, Alan H. B. Wu, Charanjit S. Rihal, Michael E. Farkouh, Naveen L. Pereira
Loss-of-function CYP2C19 variants are associated with increased cumulative ischemic outcomes warranting CYP2C19 genotyping prior to clopidogrel administration. TAILOR-PCI was an international, multicenter (40 sites), prospective, randomized trial comparing rapid point of care (POC) genotype-guided vs. conventional anti-platelet therapy. The performance of buccal-based rapid CYP2C19 genotyping performed
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Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States Pharmacogenomics J. (IF 2.8) Pub Date : 2022-04-18 Vakaramoko Diaby, Aram Babcock, Yushi Huang, Richard K. Moussa, Paula S. Espinal, Michelin Janvier, Diana Soler, Apeksha Gupta, Parul Jayakar, Magaly Diaz-Barbosa, Balagangadhar Totapally, Jun Sasaki, Anuj Jayakar, Daria Salyakina
There is an increasing demand for supporting the adoption of rapid whole-genome sequencing (rWGS) by demonstrating its real-world value. We aimed to assess the cost-effectiveness of rWGS in critically ill pediatric patients with diseases of unknown cause. Data were collected prospectively of patients admitted to the Nicklaus Children’s Hospital’s intensive care units from March 2018 to September 2020
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Implementation of pharmacogenomic clinical decision support for health systems: a cost-utility analysis Pharmacogenomics J. (IF 2.8) Pub Date : 2022-04-01 Shangqing Jiang, Patrick C. Mathias, Nathaniel Hendrix, Brian H. Shirts, Peter Tarczy-Hornoch, David Veenstra, Daniel Malone, Beth Devine
We constructed a cost-effectiveness model to assess the clinical and economic value of a CDS alert program that provides pharmacogenomic (PGx) testing results, compared to no alert program in acute coronary syndrome (ACS) and atrial fibrillation (AF), from a health system perspective. We defaulted that 20% of 500,000 health-system members between the ages of 55 and 65 received PGx testing for CYP2C19
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Opportunities for personalizing colorectal cancer care: an analysis of SEER-medicare data Pharmacogenomics J. (IF 2.8) Pub Date : 2022-03-31 Zachary T. Rivers, Helen M. Parsons, Pamala A. Jacobson, Karen M. Kuntz, Joel F. Farley, David J. Stenehjem
United States clinical practice guidelines for metastatic colorectal cancer recommend use of medications impacted by genetic variants but do not recommend testing. We analyzed real-world treatment using a cancer registry and claims dataset to explore pharmacogenomic (PGx) medication treatment patterns and characterize exposure. In a cohort of 6957 patients, most (86.9%) were exposed to at least one
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Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach Pharmacogenomics J. (IF 2.8) Pub Date : 2022-03-31 Luis Ramudo-Cela, Sara Santana-Martínez, Maite García-Ramos, Mariano Bergamino, Diego García-Giustiniani, Paula Vélez-Vieitez, Jose Luis Hernández-Hernández, Carmen García-Ibarbia, Pablo González-Bustos, Patricia Ruíz-Martín, Jaime González-Lozano, Luis Santomé-Collazo, Andrea Grana-Fernandez, Pablo Cabaleiro-Cerviño, Martín Ortíz, Lorenzo Monserrat-Iglesias
The diagnostic process of familial hypercholesterolemia frequently involves the use of genetic studies. Patients are treated with lipid-lowering drugs, frequently statins. Although pharmacogenomic clinical practice guidelines focusing on genotype-based statin prescription have been published, their use in routine clinical practice remains very modest. We have implemented a new NGS strategy that combines
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A systematic review on the cost effectiveness of pharmacogenomics in developing countries: implementation challenges Pharmacogenomics J. (IF 2.8) Pub Date : 2022-03-22 Asif Sukri, Mohd Zaki Salleh, Collen Masimirembwa, Lay Kek Teh
The major challenges that delay the implementation of pharmacogenomics based clinical practice in the developing countries, primarily the low- and middle-income countries need to be recognized. This review was conducted to systematically review evidence of the cost-effectiveness for the conduct of pharmacogenomics testing in the developing countries. Studies that evaluated the cost-effectiveness of
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Correction to: Pharmacogenetic interventions to improve outcomes in patients with multimorbidity or prescribed polypharmacy: a systematic review Pharmacogenomics J. (IF 2.8) Pub Date : 2022-03-01 Joseph O’Shea,Mark Ledwidge,Joseph Gallagher,Catherine Keenan,Cristín Ryan
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Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder Pharmacogenomics J. (IF 2.8) Pub Date : 2022-02-23 Katja Häkkinen, Johanna I. Kiiski, Markku Lähteenvuo, Tuomas Jukuri, Kimmo Suokas, Jussi Niemi-Pynttäri, Tuula Kieseppä, Teemu Männynsalo, Asko Wegelius, Willehard Haaki, Kaisla Lahdensuo, Risto Kajanne, Mari A. Kaunisto, Annamari Tuulio-Henriksson, Olli Kampman, Jarmo Hietala, Juha Veijola, Jouko Lönnqvist, Erkki Isometsä, Tiina Paunio, Jaana Suvisaari, Eija Kalso, Mikko Niemi, Jari Tiihonen, Mark
We demonstrate that CYP2D6 copy-number variation (CNV) can be imputed using existing imputation algorithms. Additionally, we report frequencies of key pharmacogenetic variants in individuals with a psychotic disorder from the genetically bottle-necked population of Finland. We combined GWAS chip and CYP2D6 CNV data from the Breast Cancer Pain Genetics study to construct an imputation panel (n = 902)
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Pharmacogenetic interventions to improve outcomes in patients with multimorbidity or prescribed polypharmacy: a systematic review Pharmacogenomics J. (IF 2.8) Pub Date : 2022-02-22 Joseph O’Shea, Mark Ledwidge, Joseph Gallagher, Catherine Keenan, Cristín Ryan
Conventional medicines optimisation interventions in people with multimorbidity and polypharmacy are complex and yet limited; a more holistic and integrated approach to healthcare delivery is required. Pharmacogenetics has potential as a component of medicines optimisation. Studies involving multi-medicine pharmacogenetics in adults with multimorbidity or polypharmacy, reporting on outcomes derived
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HLA-B*07:02 and HLA-C*07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure Pharmacogenomics J. (IF 2.8) Pub Date : 2022-02-16 Jennifer L. Goldman, Jenna O. Miller, Neil Miller, Robert Eveleigh, Andrew Gibson, Elizabeth J. Phillips, Tomi Pastinen
We have identified an underrecognized severe adverse drug reaction (ADR) of trimethoprim-sulfamethoxazole (TMP-SMX) associated respiratory failure in previously healthy children and young adults. We investigated potential genetic risk factors associated with TMP-SMX induced respiratory failure in a cohort of seven patients. We explored whole genome sequence among seven patients representing nearly