Nkhoma, E. T., Poole, C., Vannappagari, V., Hall, S. A. & Beutler, E. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cell Mol. Dis. 42, 267–278 (2009).
Pirmohamed, M. Pharmacogenetics and pharmacogenomics. Br. J. Clin. Pharmacol. 52, 345–347 (2001).
Spear, B. B., Heath-Chiozzi, M. & Huff, J. Clinical application of pharmacogenetics. Trends Mol. Med. 7, 201–204 (2001).
Connor, S. Glaxo chief: Our drugs do not work on most patients. Independent (Lond.) https://www.independent.co.uk/news/science/glaxo-chief-our-drugs-do-not-work-on-most-patients-5508670.html (8 December 2003).
Schork, N. J. Personalized medicine: time for one-person trials. Nature 520, 609–611 (2015).
Michel, M. C. & Staskin, D. Study designs for evaluation of combination treatment: focus on individual patient benefit. Biomedicines 10, 270 (2022).
Snapinn, S. M. & Jiang, Q. Responder analyses and the assessment of a clinically relevant treatment effect. Trials 8, 31 (2007).
Senn, S. Individual response to treatment: is it a valid assumption? BMJ 329, 966–968 (2004).
Lonergan, M. et al. Defining drug response for stratified medicine. Drug Discov. Today 22, 173–179 (2017).
Pirmohamed, M. et al. Adverse drug reactions as cause of admission to hospital: prospective analysis of 18 820 patients. BMJ 329, 15–19 (2004). The largest epidemiological study of ADRs causing hospital admission.
Osanlou, R., Walker, L., Hughes, D. A., Burnside, G. & Pirmohamed, M. Adverse drug reactions, multimorbidity and polypharmacy: a prospective analysis of 1 month of medical admissions. BMJ Open 12, e055551 (2022).
Davies, E. C. et al. Adverse drug reactions in hospital in-patients: a prospective analysis of 3695 patient-episodes. PLoS ONE 4, e4439 (2009).
Alhawassi, T. M., Krass, I., Bajorek, B. V. & Pont, L. G. A systematic review of the prevalence and risk factors for adverse drug reactions in the elderly in the acute care setting. Clin. Interv. Aging 9, 2079–2086 (2014).
Soiza, R. L. Global pandemic — the true incidence of adverse drug reactions. Age Ageing 49, 934–935 (2020).
Mostafa, S., Kirkpatrick, C. M. J., Byron, K. & Sheffield, L. An analysis of allele, genotype and phenotype frequencies, actionable pharmacogenomic (PGx) variants and phenoconversion in 5408 Australian patients genotyped for CYP2D6, CYP2C19, CYP2C9 and VKORC1 genes. J. Neural Transm. 126, 5–18 (2019).
Cohn, I. et al. Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study. NPJ Genom. Med. 2, 19 (2017).
Reisberg, S. et al. Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions. Genet. Med. 21, 1345–1354 (2019).
Alshabeeb, M. A., Deneer, V. H. M., Khan, A. & Asselbergs, F. W. Use of pharmacogenetic drugs by the Dutch population. Front. Genet. 10, 567 (2019).
Jithesh, P. V. et al. A population study of clinically actionable genetic variation affecting drug response from the Middle East. NPJ Genom. Med. 7, 10 (2022).
McInnes, G. et al. Pharmacogenetics at scale: an analysis of the UK Biobank. Clin. Pharmacol. Ther. 109, 1528–1537 (2021).
Turner, R. M., de Koning, E. M., Fontana, V., Thompson, A. & Pirmohamed, M. Multimorbidity, polypharmacy, and drug-drug-gene interactions following a non-ST elevation acute coronary syndrome: analysis of a multicentre observational study. BMC Med. 18, 367 (2020).
Van Driest, S. L. et al. Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing. Clin. Pharmacol. Ther. 95, 423–431 (2014).
Ji, Y. et al. Preemptive pharmacogenomic testing for precision medicine: a comprehensive analysis of five actionable pharmacogenomic genes using next-generation DNA sequencing and a customized CYP2D6 genotyping cascade. J. Mol. Diagn. 18, 438–445 (2016).
Dunnenberger, H. M. et al. Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu. Rev. Pharmacol. Toxicol. 55, 89–106 (2015).
Kimpton, J. E. et al. Longitudinal exposure of English primary care patients to pharmacogenomic drugs: an analysis to inform design of pre-emptive pharmacogenomic testing. Br. J. Clin. Pharmacol. 85, 2734–2746 (2019). A large database analysis showing exposure to drugs with pharmacogenomic guidance over a lifetime.
Whirl-Carrillo, M. et al. Pharmacogenomics knowledge for personalized medicine. Clin. Pharmacol. Ther. 92, 414–417 (2012).
Whirl-Carrillo, M. et al. An evidence-based framework for evaluating pharmacogenomics knowledge for personalized medicine. Clin. Pharmacol. Ther. 110, 563–572 (2021).
Gaedigk, A., Whirl-Carrillo, M., Pratt, V. M., Miller, N. A. & Klein, T. E. PharmVar and the landscape of pharmacogenetic resources. Clin. Pharmacol. Ther. 107, 43–46 (2020).
FDA. Table of Pharmacogenomic Biomarkers in Drug Labeling. https://www.fda.gov/drugs/science-and-research-drugs/table-pharmacogenomic-biomarkers-drug-labeling (2022).
FDA. Table of Pharmacogenetic Associations. https://www.fda.gov/medical-devices/precision-medicine/table-pharmacogenetic-associations (2022).
Electronic Medicines Compendium. Tamoxifen 20mg film-coated tablets. https://www.medicines.org.uk/emc/product/2248/smpc#gref (2022).
Koopmans, A. B., Braakman, M. H., Vinkers, D. J., Hoek, H. W. & van Harten, P. N. Meta-analysis of probability estimates of worldwide variation of CYP2D6 and CYP2C19. Transl. Psychiatry 11, 141 (2021). Meta-analysis detailing the global variation in frequencies of variants in two important cytochrome P450 genes.
Meyer, U. A. Pharmacogenetics — five decades of therapeutic lessons from genetic diversity. Nat. Rev. Genet. 5, 669–676 (2004).
Matthaei, J. et al. Heritability of metoprolol and torsemide pharmacokinetics. Clin. Pharmacol. Ther. 98, 611–621 (2015).
Arnett, D. K. et al. Pharmacogenetic approaches to hypertension therapy: design and rationale for the Genetics of Hypertension Associated Treatment (GenHAT) study. Pharmacogenomics J. 2, 309–317 (2002).
Hawcutt, D. B. et al. Susceptibility to corticosteroid-induced adrenal suppression: a genome-wide association study. Lancet Respir. Med. 6, 442–450 (2018).
Bourgeois, S. et al. Genome-wide association between EYA1 and aspirin-induced peptic ulceration. EBioMedicine 74, 103728 (2021).
McInnes, G., Yee, S. W., Pershad, Y. & Altman, R. B. Genomewide association studies in pharmacogenomics. Clin. Pharmacol. Ther. 110, 637–648 (2021). The successes and challenges of undertaking GWAS for pharmacogenomic phenotypes.
Maranville, J. C. & Cox, N. J. Pharmacogenomic variants have larger effect sizes than genetic variants associated with other dichotomous complex traits. Pharmacogenomics J. 16, 388–392 (2016).
Bourgeois, S. et al. A multi-factorial analysis of response to warfarin in a UK prospective cohort. Genome Med. 8, 2 (2016).
Relling, M. V. et al. Clinical pharmacogenetics implementation consortium guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update. Clin. Pharmacol. Ther. 105, 1095–1105 (2019).
Henricks, L. M. et al. DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis. Lancet Oncol. 19, 1459–1467 (2018). Evaluation of four variants in the DPYD gene in patients of European descent, and how changes in dose can modulate the occurrence of toxicity.
Hulshof, E. C. et al. UGT1A1 genotype-guided dosing of irinotecan: a prospective safety and cost analysis in poor metaboliser patients. Eur. J. Cancer 162, 148–157 (2022).
Rawlins, M. D. & Thompson, J. W. in Textbook of Adverse Drug Reactions (ed. Davies, D. M.) 18–45 (Oxford University Press, Oxford, 1991).
Kuruvilla, R., Scott, K. & Pirmohamed, S. M. Pharmacogenomics of drug hypersensitivity: technology and translation. Immunol. Allergy Clin. North. Am. 42, 335–355 (2022).
Daly, A. K. et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat. Genet. 41, 816–819 (2009).
McCormack, M. et al. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N. Engl. J. Med. 364, 1134–1143 (2011).
Phillips, E. & Mallal, S. Successful translation of pharmacogenetics into the clinic: the abacavir example. Mol. Diagn. Ther. 13, 1–9 (2009).
Mallal, S. et al. HLA-B*5701 screening for hypersensitivity to abacavir. N. Engl. J. Med. 358, 568–579 (2008). Randomized controlled trial showing the utility of pre-prescription genotyping for HLA-B*57:01 in preventing abacavir hypersensitivity.
Illing, P. T. et al. Immune self-reactivity triggered by drug-modified HLA-peptide repertoire. Nature 486, 554–558 (2012). Paper detailing the mechanisms by which abacavir binds to HLA-B*57:01 and alters the repertoire of endogenous peptides leading to immune self-reactivity.
White, K. D., Chung, W. H., Hung, S. I., Mallal, S. & Phillips, E. J. Evolving models of the immunopathogenesis of T cell-mediated drug allergy: the role of host, pathogens, and drug response. J. Allergy Clin. Immunol. 136, 219–234 (2015). quiz 235.
Jaruthamsophon, K., Thomson, P. J., Sukasem, C., Naisbitt, D. J. & Pirmohamed, M. HLA allele-restricted immune-mediated adverse drug reactions: framework for genetic prediction. Annu. Rev. Pharmacol. Toxicol. 62, 509–529 (2021).
Nelson, M. R. et al. The genetics of drug efficacy: opportunities and challenges. Nat. Rev. Genet. 17, 197–206 (2016).
Holmes, R. D., Tiwari, A. K. & Kennedy, J. L. Mechanisms of the placebo effect in pain and psychiatric disorders. Pharmacogenomics J. 16, 491–500 (2016).
Jorgensen, A. L. et al. Adherence and variability in warfarin dose requirements: assessment in a prospective cohort. Pharmacogenomics 14, 151–163 (2013).
Agache, I. & Akdis, C. A. Precision medicine and phenotypes, endotypes, genotypes, regiotypes, and theratypes of allergic diseases. J. Clin. Invest. 129, 1493–1503 (2019).
Brown, L. C. et al. Pharmacogenomic testing and depressive symptom remission: a systematic review and meta-analysis of prospective, controlled clinical trials. Clin. Pharmacol. Ther. https://doi.org/10.1002/cpt.2748 (2022).
Pereira, N. L. et al. Clopidogrel pharmacogenetics. Circ. Cardiovasc. Interv. 12, e007811 (2019).
Shuldiner, A. R. et al. Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. JAMA 302, 849–857 (2009).
Beitelshees, A. L. et al. CYP2C19 genotype-guided antiplatelet therapy after percutaneous coronary intervention in diverse clinical settings. J. Am. Heart Assoc. 11, e024159 (2022).
Minderhoud, C., Otten, L. S., Hilkens, P. H. E., van den Broek, M. P. H. & Harmsze, A. M. Increased frequency of CYP2C19 loss-of-function alleles in clopidogrel-treated patients with recurrent cerebral ischemia. Br. J. Clin. Pharmacol. 88, 3335–3340 (2022).
Wang, Y. et al. Ticagrelor versus clopidogrel in CYP2C19 loss-of-function carriers with stroke or TIA. N. Engl. J. Med. 385, 2520–2530 (2021).
Nofziger, C. et al. PharmVar GeneFocus: CYP2D6. Clin. Pharmacol. Ther. 107, 154–170 (2020).
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