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Perspective

Pharmacogenomics – a minor rather than major force in clinical medicine

Pages 203-212 | Received 01 Nov 2023, Accepted 01 Feb 2024, Published online: 06 Feb 2024

References

  • Polasek T. Drugs and genetics. Aust Prescr. 2017 Oct;40(5):167. doi: 10.18773/austprescr.2017.061
  • Polasek TM, Mina K, Suthers G. Pharmacogenomics in general practice - the time has come. Aust J Gen Pract. 2019;48(3):100–105. doi: 10.31128/AJGP-10-18-4733
  • Suthers GK, Polasek TM. Letter to the editor: reply to Bousman et al. Pharmacogenomics. 2019;20(15):1061–1062. doi: 10.2217/pgs-2019-0110
  • Polasek T, Caramins M, Suthers G. Regulatory and other responses to the pharmaceutical opioid problem. Med J Aust. 2019 Sep;211(5):237–237 e1. doi: 10.5694/mja2.50297
  • Polasek TM. Calculation of the pharmacogenomics benefit score for patients with medication-related problems. Front Genet. 2023;14:14.
  • Polasek TM, Mostafa S, Kirkpatrick CMJ. Consistent terminology for medication-related problems in pharmacogenomic cases. J Psychiatry Neurosci. 2023 May;48(3):E151–E152. doi: 10.1503/jpn.230022-l
  • Mostafa S, Polasek TM, Bousman C, et al. Pharmacogenomics in psychiatry - the challenge of cytochrome P450 enzyme phenoconversion and solutions to assist precision dosing. Pharmacogenomics. 2022;23(15):857–867. doi: 10.2217/pgs-2022-0104
  • Peck RW, Shahin MH, Vinks AA. Precision dosing: the clinical pharmacology of goldilocks. Clin Pharmacol Ther. 2021 Jan;109(1):11–14. doi: 10.1002/cpt.2112
  • Nakagawa H, Fujita M. Whole genome sequencing analysis for cancer genomics and precision medicine. Cancer Sci. 2018 Mar;109(3):513–522. doi: 10.1111/cas.13505
  • Wise AL, Manolio TA, Mensah GA, et al. Genomic medicine for undiagnosed diseases. Lancet. 2019 Aug 10;394(10197):533–540. doi: 10.1016/S0140-6736(19)31274-7
  • Polasek TM, Ambler K, Scott HS, et al. Targeted pharmacotherapy after somatic cancer mutation screening. F1000Res. 2016;5:1551. doi: 10.12688/f1000research.9040.1
  • Peck RW. Precision medicine is not just genomics: the right dose for every patient. Annu Rev Pharmacol Toxicol. 2018 Jan 6;58(1):105–122. doi: 10.1146/annurev-pharmtox-010617-052446
  • Kloypan C, Koomdee N, Satapornpong P, et al. A comprehensive review of HLA and severe cutaneous adverse drug reactions: implication for clinical pharmacogenomics and precision medicine. Pharmaceuticals (Basel). 2021 Oct 25;14(11):1077. doi: 10.3390/ph14111077
  • Manson LEN, Swen JJ, Guchelaar HJ. Diagnostic test criteria for HLA genotyping to prevent drug hypersensitivity reactions: a systematic review of actionable HLA recommendations in CPIC and DPWG guidelines. Front Pharmacol. 2020;11:567048. doi: 10.3389/fphar.2020.567048
  • Stojanova J, Day RO, Suthers G. Avoiding severe drug hypersensitivity reactions: a case for HLA genotyping for at-risk patients. Med J Aust. 2023 Jun 5;218(10):441–444.
  • Lindh M, Hallberg P, Yue QY, et al. Clinical factors predicting drug-induced liver injury due to flucloxacillin. Drug Healthc Patient Saf. 2018;10:95–101. doi: 10.2147/DHPS.S178394
  • Verbelen M, Weale ME, Lewis CM. Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet? Pharmacogenomics J. 2017 Oct;17(5):395–402. doi: 10.1038/tpj.2017.21
  • Caudle KE, Hoffman JM, Gammal RS. Pharmacogenomics implementation: “a little less conversion a little more action, please”. Pharmacogenomics. 2023;24(4):183–186. doi: 10.2217/pgs-2023-0020
  • Dias MM, Sorich MJ, Rowland A, et al. The routine clinical use of pharmacogenetic tests: what it will require? Pharm Res. 2017 Aug;34(8):1544–1550. doi: 10.1007/s11095-017-2128-0
  • Amstutz U, Henricks LM, Offer SM, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update. Clin Pharmacol Ther. 2018 Feb;103(2):210–216.
  • Relling MV, Klein TE. CPIC: clinical pharmacogenetics implementation consortium of the pharmacogenomics research network. Clin Pharmacol Ther. 2011 Mar;89(3):464–467. doi: 10.1038/clpt.2010.279
  • Malki MA, Pearson ER. Drug-drug-gene interactions and adverse drug reactions. Pharmacogenomics J. 2020 Jun;20(3):355–366. doi: 10.1038/s41397-019-0122-0
  • Achour B, Gosselin P, Terrier J, et al. Liquid biopsy for patient characterization in cardiovascular disease: verification against markers of cytochrome P450 and P-Glycoprotein activities. Clin Pharmacol Ther. 2022 Jun;111(6):1268–1277.
  • Polasek TM, Schuck V. Improving the efficiency of clinical pharmacology studies. Clin Pharmacol Drug Dev. 2023 Jun 23;12(8):771–774.
  • Mostafa S, Polasek TM, Bousman C, et al. Delineating gene-environment effects using virtual twins of patients treated with clozapine. CPT Pharmacometrics Syst Pharmacol. 2023 Feb;12(2):168–179.
  • Angehrn Z, Haldna L, Zandvliet AS, et al. Artificial intelligence and machine learning applied at the point of care. Front Pharmacol. 2020;11:11. doi: 10.3389/fphar.2020.00759
  • Santini C, Schindler E, Attig J, et al., editors. Development of a quantitative systems pharmacology model for clinical dose and schedule optimization of forimtamig, a T cell engaging antibody targeting GPRC5D in multiple myeloma. American Association for Cancer Research Annual Meeting 2023; Orlando, Florida, USA; 2023.
  • Gardiner SJ, Begg EJ. Pharmacogenetics, drug-metabolizing enzymes, and clinical practice. Pharmacol Rev. 2006;58(3):521–590. doi: 10.1124/pr.58.3.6
  • Polasek TM, Shakib S, Rostami-Hodjegan A. Precision dosing in clinical medicine: present and future. Expert Rev Clin Pharmacol. 2018 Aug;11(8):743–746. doi: 10.1080/17512433.2018.1501271
  • Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med. 2015;372(9):793–5. doi: 10.1056/NEJMp1500523
  • Polasek TM, Kirkpatrick CMJ, Rostami-Hodjegan A. Precision dosing to avoid adverse drug reactions. Ther Adv Drug Saf. 2019;10:2042098619894147. doi: 10.1177/2042098619894147
  • Polasek TM, Shakib S, Rostami-Hodjegan A. Precision medicine technology reality not hype - the example of model-informed precision dosing. F1000Res. 2019;8:1709. doi: 10.12688/f1000research.20489.2
  • Polasek TM, Rostami-Hodjegan A. Virtual twins: understanding the data required for model-informed precision dosing. Clin Pharmacol Ther. 2020 Feb 14;107(4):742–745. doi: 10.1002/cpt.1778
  • Darwich AS, Polasek TM, Aronson JK, et al. Model-Informed Precision Dosing: Background, Requirements, Validation, Implementation, and Forward Trajectory of Individualizing Drug Therapy. Annu Rev Pharmacol Toxicol. 2021 Jan 6;61(1):225–245. doi: 10.1146/annurev-pharmtox-033020-113257
  • Gonzalez D, Rao GG, Bailey SC, et al. Precision dosing: public health need, proposed framework, and anticipated impact. Clin Transl Sci. 2017 Nov;10(6):443–454.
  • Darwich AS, Ogungbenro K, Vinks AA, et al. Why has model-informed precision dosing not yet become common clinical reality? Lessons from the past and a roadmap for the future. Clin Pharmacol Ther. 2017 May;101(5):646–656.
  • Hopkins AM, Menz BD, Wiese MD, et al. Nuances to precision dosing strategies of targeted cancer medicines. Pharmacol Res Perspect. 2020 Aug;8(4):e00625.
  • Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet. 2010 Oct 15;19(R2):R176–87.
  • Shon JH, Yoon YR, Kim KA, et al. Effects of CYP2C19 and CYP2C9 genetic polymorphisms on the disposition of and blood glucose lowering response to tolbutamide in humans. Pharmacogenetics. 2002;12(2):111–119. doi: 10.1097/00008571-200203000-00005
  • Takahashi H, Echizen H. Pharmacogenetics of warfarin elimination and its clinical implications. Clin Pharmacokinet. 2001;40(8):587–603. doi: 10.2165/00003088-200140080-00003
  • Payan M, Rouini MR, Tajik N, et al. Hydroxylation index of omprazole in relation to CYP2C19 polymophism and sex in a healthy Iranian population. DARU J Pharm Sci. 2014;22(81). doi: 10.1186/s40199-014-0081-6
  • Evans WE, McLeod HL. Pharmacogenomics-drug disposition, drug target, and side effects. N Engl J Med. 2003;348(6):538–549. doi: 10.1056/NEJMra020526
  • Meloche M, Leclair G, Jutras M, et al. Leveraging large observational studies to discover genetic determinants of drug concentrations: a proof-of-concept study. Clin Transl Sci. 2022 Apr;15(4):1063–1073.
  • Furman KD, Grimm DR, Mueller T, et al. Impact of CYP2D6 intermediate metabolizer alleles on single-dose desipramine pharmacokinetics. Pharmacogenetics. 2004;14(5):279–284. doi: 10.1097/00008571-200405000-00002
  • Brown LC, Stanton JD, Bharthi K, et al. Pharmacogenomic testing and depressive symptom remission: a systematic review and meta-analysis of prospective, controlled clinical trials. Clin Pharmacol Ther. 2022 Dec;112(6):1303–1317. doi: 10.1002/cpt.2748
  • Swen JJ, van der Wouden CH, Manson LE, et al. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet. 2023 Feb 4;401(10374):347–356. doi: 10.1016/S0140-6736(22)01841-4
  • Rogers A, Mackenzie IS, MacDonald TM, et al. The PREPARE study: benefits of pharmacogenetic testing are unclear. Lancet. 2023 Jun 3;401(10391):1850. doi: 10.1016/S0140-6736(23)00853-X
  • Peñas-LLedó E, LLerena A. Clinical use of pre-emptive pharmacogenetic programmes. Lancet. 2023 Feb 4;401(10374):320–321.
  • Thomas CD, Mosley SA, Kim S, et al. Examination of metoprolol pharmacokinetics and pharmacodynamics across CYP2D6 genotype-derived activity scores. CPT Pharmacometrics Syst Pharmacol. 2020 Dec;9(12):678–685.
  • Brown JT, Bishop JR, Sangkuhl K, et al. Clinical pharmacogenetics implementation consortium guideline for cytochrome P450 (CYP)2D6 genotype and atomoxetine therapy. Clin Pharmacol Ther. 2019 Jul;106(1):94–102.
  • Johnson JA, Caudle KE, Gong L, et al. Clinical pharmacogenetics implementation consortium (CPIC) guideline for pharmacogenetics-guided warfarin dosing: 2017 update. Clin Pharmacol Ther. 2017 Sep;102(3):397–404.
  • Rayner CR, Smith PF, Andes D, et al. Model-informed drug development for anti-infectives: state of the art and future. Clin Pharmacol Ther. 2021 Apr;109(4):867–891.
  • Crews KR, Gaedigk A, Dunnenberger HM, et al. Clinical pharmacogenetics implementation consortium guidelines for cytochrome P450 2D6 genotype and codeine therapy: 2014 update. Clin Pharmacol Ther. 2014 Apr;95(4):376–82.
  • Crews KR, Monte AA, Huddart R, et al. Clinical pharmacogenetics implementation consortium guideline for CYP2D6, OPRM1, and COMT genotypes and select opioid therapy. Clin Pharmacol Ther. 2021 Oct;110(4):888–896. doi: 10.1002/cpt.2149
  • Bousman CA, Maruf AA, Marques DF, et al. The emergence, implementation, and future growth of pharmacogenomics in psychiatry: a narrative review. Psychol Med. Sep 2023;29:1–11.
  • Osteberg L, Blaschke T. Adherence to medication. N Engl J Med. 2005;353(5):487–497. doi: 10.1056/NEJMra050100
  • Assawasuwannakit P, Braund R, Duffull SB. Quantification of the forgiveness of drugs to imperfect adherence. CPT Pharmacometrics Syst Pharmacol. 2015 Mar;4(3):e00004. doi: 10.1002/psp4.4
  • Polasek TM, Rayner CR, Peck RW, et al. Toward dynamic prescribing information: codevelopment of companion model-informed precision dosing tools in drug development. Clin Pharmacol Drug Dev. 2019 May;8(4):418–425.
  • Polasek TM, Lin FKL, Miners JO, et al. Perpetrators of pharmacokinetic drug-drug interactions from altered cytochrome P450 activity: a criteria-based assessment. Br J Clin Pharmacol. 2011;71(5):727–736. doi: 10.1111/j.1365-2125.2011.03903.x
  • Kappos L, Bar-Or A, Cree BAC, et al. Siponimod versus placebo in secondary progressive multiple sclerosis (EXPAND): a double-blind, randomised, phase 3 study. Lancet. 2018 Mar 31;391(10127):1263–1273. doi: 10.1016/S0140-6736(18)30475-6
  • Middleton PG, Mall MA, Drevinek P, et al. Elexacaftor-tezacaftor-ivacaftor for cystic fibrosis with a single Phe508del allele. N Engl J Med. 2019 Nov 7;381(19):1809–1819. doi: 10.1056/NEJMoa1908639
  • Polasek TM, Doogue MP, Miners JO. Metabolic activation of clopidogrel: in vitro data provide conflicting evidence for the contributions of CYP2C19 and PON1. Ther Adv Drug Saf. 2011 Dec;2(6):253–61. doi: 10.1177/2042098611422559
  • Wallentin L, Becker RC, Budaj A, et al. Ticagrelor versus clopidogrel in patients with actue coronary syndromes. N Engl J Med. 2009;361(11):1045–1057. doi: 10.1056/NEJMoa0904327
  • Polasek TM. Beyond CYP2C19 - A New Chapter in Clopidogrel Pharmacogenomics. J Pharm Pract Res. 2011;41(1):14–16. doi: 10.1002/j.2055-2335.2011.tb00054.x
  • Forbes HL, Polasek TM. Potential drug–drug interactions with direct oral anticoagulants in elderly hospitalized patients. Ther Adv Drug Saf. 2017;8(10):319–328. doi: 10.1177/2042098617719815
  • Maertens JA, Rahav G, Lee DG, et al. Posaconazole versus voriconazole for primary treatment of invasive aspergillosis: a phase 3, randomised, controlled, non-inferiority trial. Lancet. 2021 Feb 6;397(10273):499–509. doi: 10.1016/S0140-6736(21)00219-1
  • Roden DM, McLeod HL, Relling MV, et al. Pharmacogenomics. Lancet. 2019 Aug 10;394(10197):521–532. doi: 10.1016/S0140-6736(19)31276-0
  • Pirmohamed M. Pharmacogenomics: current status and future perspectives. Nat Rev Genet. 2023 Jan 27;24(6):350–362.
  • Bally S, Cottin J, Gagnieu MC, et al. Publication bias in pharmacogenetics of adverse reaction to antiseizure drugs: an umbrella review and a meta-epidemiological study. PLoS One. 2022;17(12):e0278839. doi: 10.1371/journal.pone.0278839
  • Swen JJ, Nijenhuis M, de Boer A, et al. Pharmacogenetics: from bench to byte-an update of guidelines. Clin Pharmacol Ther. 2011 May;89(5):662–673.
  • Mostafa S, Kirkpatrick CMJ, Byron K, et al. 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 (Vienna). 2019 Jan;126(1):5–18.
  • Pritchard D, Patel JN, Stephens LE, et al. Comparison of FDA table of pharmacogenetic associations and clinical pharmacogenetics implementation consortium guidelines. Am J Health Syst Pharm. 2022 Jun 7;79(12):993–1005. doi: 10.1093/ajhp/zxac064
  • Hicks JK, Sangkuhl K, Swen JJ, et al. Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update. Clin Pharmacol Ther. 2017 Jul;102(1):37–44.
  • Hinderer M, Boeker M, Wagner SA, et al. Integrating clinical decision support systems for pharmacogenomic testing into clinical routine - a scoping review of designs of user-system interactions in recent system development. BMC Med Inform Decis Mak. 2017 Jun 6;17(1):81. doi: 10.1186/s12911-017-0480-y
  • Polasek TM, Rowland A, Wiese MD, et al. Pharmacists in Australian general practice: an opportunity for expertise in precision medicine. Ther Adv Drug Saf. 2015;6(5):186–188.
  • Robson J. Screening in general practice and primary care. Br Med Bull. 1998;54(4):961–982. doi: 10.1093/oxfordjournals.bmb.a011741
  • Pearce A, Terrill B, Alffenaar JW, et al. Pharmacogenomic testing: perception of clinical utility, enablers and barriers to adoption in Australian hospitals. Intern Med J. 2022 Jul;52(7):1135–1143.
  • Stanek EJ, Sanders CL, Taber KA, et al. Adoption of pharmacogenomic testing by US physicians: results of a nationwide survey. Clin Pharmacol Ther. 2012 Mar;91(3):450–8.
  • Turner RM, Magavern EF, Pirmohamed M. Pharmacogenomics: Relevance and opportunities for clinical pharmacology. Br J Clin Pharmacol. 2022 Sep;88(9):3943–3946. doi: 10.1111/bcp.15329
  • Rothstein MA, Epps PG. Ethical and legal implications of pharmacogenomics. Nat Rev Genet. 2001 Mar;2(3):228–31. doi: 10.1038/35056075
  • Marchant G, Barnes M, Evans JP, et al. From genetics to genomics: facing the liability implications in clinical care. J Law Med Ethics. 2020 Mar;48(1):11–43.
  • O’Gara PT, Kushner FG, Ascheim DD, et al. ACCF/AHA guideline for the management of ST-elevation myocardial infarction: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines. J Am Coll Cardiol. 2013 Jan 29;61(4):e78–e140. doi: 10.1016/j.jacc.2012.11.019
  • Levine GN, Bates ER, Bittl JA, et al. ACC/AHA guideline focused update on duration of dual antiplatelet therapy in patients with coronary artery disease: a report of the American College of Cardiology/American Heart Association Task Force on clinical practice guidelines. J Am Coll Cardiol. 2016 Sep 6;68(10):1082–1115. doi: 10.1016/j.jacc.2016.03.513
  • Luzum JA, Cheung JC. Does cardiology hold pharmacogenetics to an inconsistent standard? A comparison of evidence among recommendations. Pharmacogenomics. 2018;19(15):1203–1216. doi: 10.2217/pgs-2018-0097
  • Cardoso F, Kyriakides S, Ohno S, et al. Early breast cancer: ESMO clinical practice guidelines for diagnosis, treatment and follow-updagger. Ann Oncol. 2019 Aug 1;30(8):1194–1220. doi: 10.1093/annonc/mdz173
  • Mulder TAM, de with M, Del Re M, et al. Clinical CYP2D6 Genotyping to Personalize Adjuvant Tamoxifen Treatment in ER-Positive Breast Cancer Patients: Current Status of a Controversy. Cancers (Basel). 2021 Feb 12;13(4):771. doi: 10.3390/cancers13040771
  • Primorac D, Bach-Rojecky L, Vadunec D, et al. Pharmacogenomics at the center of precision medicine: challenges and perspective in an era of big data. Pharmacogenomics. 2020;21(2):141–156. doi: 10.2217/pgs-2019-0134
  • Polasek TM. Virtual twin for healthcare management. Front Digit Health. 2023;5:1246659. doi: 10.3389/fdgth.2023.1246659
  • Al-Sarawi F, Polasek TM, Caughey GE, et al. Prescribing errors and adverse drug reaction documentation before and after implementation of e-prescribing using the enterprise patient administration system. J Pharm Pract Res. 2019;49(1):27–32. doi: 10.1002/jppr.1454
  • Dzau VJ, Ginsburg GS. Realizing the full potential of precision medicine in health and health care. JAMA. 2016 Oct 25;316(16):1659–1660.
  • Polasek TM, Leelasena I, Betscheider I, et al. Safety, tolerability, and pharmacokinetics of IMU-935, a novel inverse agonist of retinoic acid receptor-related orphan nuclear receptor gammat: results from a double-blind, placebo-controlled, first-in-human phase 1 study. Clin Pharmacol Drug Dev. 2023 May;12(5):525–534.
  • Lesko LJ, Woodcock J. Pharmacogenomic-guided drug development: regulatory perspective. Pharmacogenomics J. 2002;2(1):20–4. doi: 10.1038/sj.tpj.6500046
  • Hicks JK, Bishop JR, Sangkuhl K, et al. Clinical pharmacogenetics implementation consortium (CPIC) guideline for CYP2D6 and CYP2C19 genotypes and dosing of selective serotonin reuptake inhibitors. Clin Pharmacol Ther. 2015;98(2):127–134. doi: 10.1002/cpt.147

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