Can pharmacogenomics transform personalized medicine into routine clinical practice? Current evidence and future directions
Personalized medicine (PM) represents a transformative approach in healthcare, particularly in oncology, by tailoring treatments to individual genetic, molecular, and clinical profiles, thereby improving therapeutic specificity and minimizing adverse effects. A key component of this approach is pharmacogenomics (PGx), which examines the influence of genetic variations on drug response to optimize drug selection, dosing, and safety while reducing adverse drug reactions. This review highlights recent advances in molecular biology, PGx, and molecular diagnostics that enable accurate cancer subtype classification and the development of targeted therapies. A structured literature search was conducted to identify studies on genotype-guided therapies, pharmacogenomic biomarkers, molecular diagnostics, and clinical trials evaluating treatment efficacy and interpatient variability across diverse populations. The review emphasizes the role of predictive biomarkers and pharmacogenomic profiling in addressing heterogeneity in treatment response, facilitating individualized therapeutic strategies, and improving clinical outcomes. Despite significant progress in biological therapies and precision oncology, challenges related to biomarker validation, clinical implementation, accessibility, and cost remain. Continued multidisciplinary research and large-scale collaborative studies are essential to strengthen the clinical translation of PGx and PM. The integration of PGx, molecular diagnostics, and targeted therapies is expected to further advance precision oncology and improve patient outcomes worldwide.

- Collins FS, Varmus H. A New Initiative on Precision Medicine. N Engl J Med. 2015;372(9):793-795. doi: 10.1056/NEJMp1500523
- Relling MV, Evans WE. Pharmacogenomics in the clinic. Nature. 2015;526(7573):343-350. doi: 10.1038/nature15817
- Manolio TA, Chisholm RL, Ozenberger B, et al. Implementing genomic medicine in the clinic: the future is here. Genet Med. 2013;15(4):258-267. doi: 10.1038/gim.2012.157
- Topol EJ. High-performance medicine: the convergence of human and artificial intelligence. Nat Med. 2019;25(1):44-56. doi: 10.1038/s41591-018-0300-7
- Ginsburg GS, Phillips KA. Precision Medicine: From Science To Value. Health Aff (Millwood). 2018;37(5):694-701. doi: 10.1377/hlthaff.2017.1624
- US Food and Drug Administration. Table of Pharmacogenomic Biomarkers in Drug Labeling. Accessed August 24, 2026. https://www.fda.gov/drugs/science-and-research-drugs/table-pharmacogenomic-biomarkers-drug-labeling
- Caudle K, Klein T, Hoffman J, et al. Incorporation of Pharmacogenomics into Routine Clinical Practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline Development Process. Curr Drug Metab. 2014;15(2):209-217. doi: 10.2174/1389200215666140130124910
- Tsimberidou AM, Fountzilas E, Nikanjam M, Kurzrock R. Review of precision cancer medicine: Evolution of the treatment paradigm. Cancer Treat Rev. 2020;86:102019. doi: 10.1016/j.ctrv.2020.102019
- Marquart J, Chen EY, Prasad V. Estimation of the Percentage of US Patients With Cancer Who Benefit From Genome-Driven Oncology. JAMA Oncol. 2018;4(8):1093-1098. doi: 10.1001/jamaoncol.2018.1660
- Bousman CA, Bengesser SA, Aitchison KJ, et al. Review and Consensus on Pharmacogenomic Testing in Psychiatry. Pharmacopsychiatry. 2021;54(01):5-17. doi: 10.1055/a-1288-1061
- 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;401(10374):347-356. doi: 10.1016/S0140-6736(22)01841-4
- Clayton EW, Evans BJ, Hazel JW, Rothstein MA. The law of genetic privacy: applications, implications, and limitations. J Law Biosci. 2019;6(1):1-36. doi: 10.1093/jlb/lsz007
- Dunnenberger HM, Crews KR, Hoffman JM, et al. Preemptive Clinical Pharmacogenetics Implementation: Current Programs in Five US Medical Centers. Annu Rev Pharmacol Toxicol. 2015;55(1):89-106. doi: 10.1146/annurev-pharmtox-010814-124835
- Mpye KL, Matimba A, Dzobo K, Chirikure S, Wonkam A, Dandara C. Disease burden and the role of pharmacogenomics in African populations. Glob Health Epidemiol Genomics. 2017;2:e1. doi: 10.1017/gheg.2016.21
- Abul-Husn NS, Kenny EE. Personalized Medicine and the Power of Electronic Health Records. Cell. 2019;177(1):58-69. doi: 10.1016/j.cell.2019.02.039
- Roden DM, Van Driest SL, Mosley JD, et al. Benefit of Preemptive Pharmacogenetic Information on Clinical Outcome. Clin Pharmacol Ther. 2018;103(5):787-794. doi: 10.1002/cpt.1035
- Scott SA. Personalizing medicine with clinical pharmacogenetics. Genet Med. 2011;13(12):987-995. doi: 10.1097/GIM.0b013e318238b38c
- Weitzel KW, Alexander M, Bernhardt BA, et al. The IGNITE network: a model for genomic medicine implementation and research. BMC Med Genomics. 2016;9:1. doi: 10.1186/s12920-015-0162-5
- Agarwal B, Gaware S, More N, Shinde R, Shivakumar HN, Jagdale S. A review exploring the translational perspective of artificial intelligence in drug discovery and formulation development. Ann Pharm Fr. 2026;84(4):559-594. doi: 10.1016/j.pharma.2026.01.007
- Bank P, Caudle K, Swen J, et al. Comparison of the Guidelines of the Clinical Pharmacogenetics Implementation Consortium and the Dutch Pharmacogenetics Working Group. Clin Pharmacol Ther. 2018;103(4):599-618. doi: 10.1002/cpt.762
- Luzum J, Pakyz R, Elsey A, et al. The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Outcomes and Metrics of Pharmacogenetic Implementations Across Diverse Healthcare Systems. Clin Pharmacol Ther. 2017;102(3):502-510. doi: 10.1002/cpt.630
- Schildcrout JS, Denny JC, Bowton E, et al. Optimizing Drug Outcomes Through Pharmacogenetics: A Case for Preemptive Genotyping. Clin Pharmacol Ther. 2012;92(2):235-242. doi: 10.1038/clpt.2012.66
- Van Driest S, Shi Y, Bowton E, et al. Clinically Actionable Genotypes Among 10,000 Patients With Preemptive Pharmacogenomic Testing. Clin Pharmacol Ther. 2014;95(4):423-431. doi: 10.1038/clpt.2013.229
- Gottesman O, Kuivaniemi H, Tromp G, et al. The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med. 2013;15(10):761-771. doi: 10.1038/gim.2013.72
- Rasmussen-Torvik LJ, Stallings SC, Gordon AS, et al. Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems. Clin Pharmacol Ther. 2014;96(4):482-489. doi: 10.1038/clpt.2014.137
- Pulley JM, Denny JC, Peterson JF, et al. Operational Implementation of Prospective Genotyping for Personalized Medicine: The Design of the Vanderbilt PREDICT Project. Clin Pharmacol Ther. 2012;92(1):87-95. doi: 10.1038/clpt.2011.371
- Khera AV, Chaffin M, Aragam KG, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z
- Alix-Panabières C, Pantel K. Clinical Applications of Circulating Tumor Cells and Circulating Tumor DNA as Liquid Biopsy. Cancer Discov. 2016;6(5):479-491. doi: 10.1158/2159-8290.CD-15-1483
- Mendell JR, Al-Zaidy S, Shell R, et al. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017;377(18):1713-1722. doi: 10.1056/NEJMoa1706198
- Turnbull C, Scott RH, Thomas E, et al. The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ. Published online April 24, 2018:k1687. doi: 10.1136/bmj.k1687
- Bielinski SJ, Olson JE, Pathak J, et al. Preemptive Genotyping for Personalized Medicine: Design of the Right Drug, Right Dose, Right Time—Using Genomic Data to Individualize Treatment Protocol. Mayo Clin Proc. 2014;89(1):25-33. doi: 10.1016/j.mayocp.2013.10.021
- Weinshilboum RM, Wang L. Pharmacogenomics: Precision Medicine and Drug Response. Mayo Clin Proc. 2017;92(11):1711-1722. doi: 10.1016/j.mayocp.2017.09.001
- Cacabelos R, Cacabelos N, Carril JC. The role of pharmacogenomics in adverse drug reactions. Expert Rev Clin Pharmacol. 2019;12(5):407-442. doi: 10.1080/17512433.2019.1597706
- Tekade A, Shinde R, Nimbalkar J, Kadam P, Aswar M, Shivakumar HN. Development and evaluation of intranasal nanostructured lipid carriers encapsulating donepezil HCl and Caesalpinia bonduc seed extract for targeting Alzheimer’s disease: in vitro and in vivo evaluation. J Drug Target. Published online May 26, 2026:1-18. doi: 10.1080/1061186X.2026.2671309
- Zanger UM, Schwab M. Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression, enzyme activities, and impact of genetic variation. Pharmacol Ther. 2013;138(1):103-141. doi: 10.1016/j.pharmthera.2012.12.007
- Carr DF, Turner RM, Pirmohamed M. Pharmacogenomics of anticancer drugs: Personalising the choice and dose to manage drug response. Br J Clin Pharmacol. 2021;87(2):237-255. doi: 10.1111/bcp.14407
- Tremmel R, Pirmann S, Zhou Y, Lauschke VM. Translating pharmacogenomic sequencing data into drug response predictions—How to interpret variants of unknown significance. Br J Clin Pharmacol. 2025;91(2):252-263. doi: 10.1111/bcp.15915
- Frueh FW, Amur S, Mummaneni P, et al. Pharmacogenomic Biomarker Information in Drug Labels Approved by the United States Food and Drug Administration: Prevalence of Related Drug Use. Pharmacother J Hum Pharmacol Drug Ther. 2008;28(8):992-998. doi: 10.1592/phco.28.8.992
- Paik S, Tang G, Shak S, et al. Gene Expression and Benefit of Chemotherapy in Women With Node-Negative, Estrogen Receptor–Positive Breast Cancer. J Clin Oncol. 2006;24(23):3726-3734. doi: 10.1200/JCO.2005.04.7985
- Pardiñas AF, Owen MJ, Walters JTR. Pharmacogenomics: A road ahead for precision medicine in psychiatry. Neuron. 2021;109(24):3914-3929. doi: 10.1016/j.neuron.2021.09.011
- Wadelius M, Chen LY, Eriksson N, et al. Association of warfarin dose with genes involved in its action and metabolism. Hum Genet. 2007;121(1):23-34. doi: 10.1007/s00439-006-0260-8
- Laje G, Paddock S, Manji H, et al. Genetic Markers of Suicidal Ideation Emerging During Citalopram Treatment of Major Depression. Am J Psychiatry. 2007;164(10):1530-1538. doi: 10.1176/appi.ajp.2007.06122018
- Caputo V, Strafella C, Cosio T, et al. Pharmacogenomics: An Update on Biologics and Small-Molecule Drugs in the Treatment of Psoriasis. Genes. 2021;12(9):1398. doi: 10.3390/genes12091398
- Lu DY, Lu TR, Xu B, Ding J. Pharmacogenetics of Cancer Therapy: Breakthroughs From Beyond? Future Sci OA. 2015;1(4):FSO80. doi: 10.4155/fso.15.80
- Henricks LM, Lunenburg CATC, De Man FM, et al. DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis. Lancet Oncol. 2018;19(11):1459-1467. doi: 10.1016/S1470-2045(18)30686-7
- Maillard M, Schwab M, Whirl‐Carrillo M, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update. Clin Pharmacol Ther. 2026;119(4):916-927. doi: 10.1002/cpt.70209
- Chauhan D, Dello Russo C, Thompson J, et al. UGT1A1 genotype testing for irinotecan: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx). Br J Clin Pharmacol. 2026:;92(9):2986-3001. doi: 10.1002/bcp.70659
- Mok TS, Wu YL, Thongprasert S, et al. Gefitinib or Carboplatin–Paclitaxel in Pulmonary Adenocarcinoma. N Engl J Med. 2009;361(10):947-957. doi: 10.1056/NEJMoa0810699
- Sullivan I, Planchard D. ALK inhibitors in non-small cell lung cancer: the latest evidence and developments. Ther Adv Med Oncol. 2016;8(1):32-47. doi: 10.1177/1758834015617355
- Lauschke VM, Milani L, Ingelman-Sundberg M. Pharmacogenomic Biomarkers for Improved Drug Therapy—Recent Progress and Future Developments. AAPS J. 2018;20(1):4. doi: 10.1208/s12248-017-0161-x
- Stark Z, Dolman L, Manolio TA, et al. Integrating Genomics into Healthcare: A Global Responsibility. Am J Hum Genet. 2019;104(1):13-20. doi: 10.1016/j.ajhg.2018.11.014
- Cooper‐DeHoff RM, Niemi M, Ramsey LB, et al. The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1 , ABCG2 , and CYP2C9 genotypes and Statin‐Associated Musculoskeletal Symptoms. Clin Pharmacol Ther. 2022;111(5):1007-1021. doi: 10.1002/cpt.2557
- Birdwell K, Decker B, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP3A5 Genotype and Tacrolimus Dosing. Clin Pharmacol Ther. 2015;98(1):19-24. doi: 10.1002/cpt.113
- Wu PY, Cheng CW, Kaddi CD, Venugopalan J, Hoffman R, Wang MD. –Omic and Electronic Health Record Big Data Analytics for Precision Medicine. IEEE Trans Biomed Eng. 2017;64(2):263-273. doi: 10.1109/TBME.2016.2573285
- Stefanicka-Wojtas D, Kurpas D. Personalised Medicine—Implementation to the Healthcare System in Europe (Focus Group Discussions). J Pers Med. 2023;13(3):380. doi: 10.3390/jpm13030380
- Delpierre C, Lefèvre T. Precision and personalized medicine: What their current definition says and silences about the model of health they promote. Implication for the development of personalized health. Front Sociol. 2023;8:1112159. doi: 10.3389/fsoc.2023.1112159
- Higashi MK, Veenstra DL, Kondo LM, et al. Association Between CYP2C9 Genetic Variants and Anticoagulation-Related Outcomes During Warfarin Therapy. JAMA. 2002;287(13):1690-1698. doi: 10.1001/jama.287.13.1690
- Chen C, Wang J, Pan D, et al. Applications of multi‐omics analysis in human diseases. MedComm. 2023;4(4):e315. doi: 10.1002/mco2.315
- Karczewski KJ, Snyder MP. Integrative omics for health and disease. Nat Rev Genet. 2018;19(5):299-310. doi: 10.1038/nrg.2018.4
- Pirmohamed M. Pharmacogenomics: current status and future perspectives. Nat Rev Genet. 2023;24(6):350-362. doi: 10.1038/s41576-022-00572-8
- Misra BB, Langefeld C, Olivier M, Cox LA. Integrated omics: tools, advances and future approaches. J Mol Endocrinol. 2019;62(1):R21-R45. doi: 10.1530/JME-18-0055
- Subramanian I, Verma S, Kumar S, Jere A, Anamika K. Multi-omics Data Integration, Interpretation, and Its Application. Bioinform Biol Insights. 2020;14:117793221989905. doi: 10.1177/1177932219899051
- Hindhede AL, Andersen VH. The role of AI and personalized medicine in healthcare: balancing technological advancements and the art of medicine. BMC Med Educ. 2025;25(1):1580. doi: 10.1186/s12909-025-07771-x
- Sharma P, Sharma P, Sharma K, et al. Revolutionizing Utility of Big Data Analytics in Personalized Cardiovascular Healthcare. Bioengineering. 2025;12(5):463. doi: 10.3390/bioengineering12050463
- Afzal M, Riazul Islam SM, Hussain M, Lee S. Precision Medicine Informatics: Principles, Prospects, and Challenges. IEEE Access. 2020;8:13593-13612. doi: 10.1109/ACCESS.2020.2965955
- Suwinski P, Ong C, Ling MHT, Poh YM, Khan AM, Ong HS. Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. Front Genet. 2019;10:49. doi: 10.3389/fgene.2019.00049
- Razzak MI, Imran M, Xu G. Big data analytics for preventive medicine. Neural Comput Appl. 2020;32(9):4417-4451. doi: 10.1007/s00521-019-04095-y
- Barbazzeni B, Friebe M. Prevention, Prediction, Personalization, and Participation as Key Components in Future Health. In: Friebe M, ed. Novel Innovation Design for the Future of Health. Springer International Publishing; 2022:147-152. doi: 10.1007/978-3-031-08191-0_14
- Tian Q, Price ND, Hood L. Systems cancer medicine: towards realization of predictive, preventive, personalized and participatory (P4) medicine. J Intern Med. 2012;271(2):111-121. doi: 10.1111/j.1365-2796.2011.02498.x
- Binefa G, Rodríguez-Moranta F, Teule A, Medina-Hayas M. Colorectal cancer: From prevention to personalized medicine. World J Gastroenterol. 2014;20(22):6786-6808. doi: 10.3748/wjg.v20.i22.6786
- Liao X, Lochhead P, Nishihara R, et al. Aspirin Use, Tumor PIK3CA Mutation, and Colorectal-Cancer Survival. N Engl J Med. 2012;367(17):1596-1606. doi: 10.1056/NEJMoa1207756
- Zhao Q, Zhang C, Zhang W, Zhang S, Liu Q, Guo Y. Applications and challenges of biomarker-based predictive models in proactive health management. Front Public Health. 2025;13:1633487. doi: 10.3389/fpubh.2025.1633487
- Gabriel RA, Burton BN, Urman RD, Waterman RS. Genomics Testing and Personalized Medicine in the Preoperative Setting. Anesthesiol Clin. 2018;36(4):639-652. doi: 10.1016/j.anclin.2018.07.014
- Plöthner M, Ribbentrop D, Hartman JP, Frank M. Cost-Effectiveness of Pharmacogenomic and Pharmacogenetic Test-Guided Personalized Therapies: A Systematic Review of the Approved Active Substances for Personalized Medicine in Germany. Adv Ther. 2016;33(9):1461-1480. doi: 10.1007/s12325-016-0376-8
- Funanage VL. Impact of Genetic Testing on Human Health: he Current Landscape and Future for Personalized Medicine. Del J Public Health. 2021;7(5):10-11. doi: 10.32481/djph.2021.12.005
- Amir-Aslani A, Mangematin V. The future of drug discovery and development: Shifting emphasis towards personalized medicine. Technol Forecast Soc Change. 2010;77(2):203-217. doi: 10.1016/j.techfore.2009.09.005
- Strianese O, Rizzo F, Ciccarelli M, et al. Precision and Personalized Medicine: How Genomic Approach Improves the Management of Cardiovascular and Neurodegenerative Disease. Genes. 2020;11(7):747. doi: 10.3390/genes11070747
- Knowles JK, Helbig I, Metcalf CS, et al. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. Epilepsia. 2022;63(10):2461-2475. doi: 10.1111/epi.17332
- Kim JM, Park SY, Lee D, et al. Genomic investigation of the coronavirus disease-2019 outbreak in the Republic of Korea. Sci Rep. 2021;11(1):6009. doi: 10.1038/s41598-021-85623-6
- Fung E, Patsopoulos N, Belknap S, et al. Effect of Genetic Variants, Especially CYP2C9 and VKORC1, on the Pharmacology of Warfarin. Semin Thromb Hemost. 2012;38(08):893-904. doi: 10.1055/s-0032-1328891
- Kołodziejczyk J, Fijarczyk A, Porth I, et al. Genomic investigations of successful invasions: the picture emerging from recent studies. Biol Rev. 2025;100(3):1396-1418. doi: 10.1111/brv.70005
- Pandey A, Gupta SP. Personalized Medicine: A Comprehensive Review. Orient J Chem. 2024;40(4):933-944. doi: 10.13005/ojc/400403
- Yamamoto Y, Kanayama N, Nakayama Y, Matsushima N. Current Status, Issues and Future Prospects of Personalized Medicine for Each Disease. J Pers Med. 2022;12(3):444. doi: 10.3390/jpm12030444
- Xu Y, Wu Q. Awareness, understanding, and interest in personalized medicine: A cross-sectional survey study of college students. PLOS ONE. 2023;18(1):e0280832. doi: 10.1371/journal.pone.0280832
- Weigelt MA, Lev-Tov HA, Tomic-Canic M, et al. Advanced Wound Diagnostics: Toward Transforming Wound Care into Precision Medicine. Adv Wound Care. 2022;11(6):330-359. doi: 10.1089/wound.2020.1319
- Shinde R, Nimbalkar J, Shivakumar HN. Chitosan-based nanoplatforms for drug delivery and biomedical applications: Recent advances and therapeutic perspectives. Next Materials. 2026;13:103091. doi: 10.1016/j.nxmate.2026.103091
- Behzadi P, Dodero VI, Golubnitschaja O. Systemic Inflammation as the Health-Related Communication Tool Between the Human Host and Gut Microbiota in the Framework of Predictive, Preventive, and Personalized Medicine. In: Wang W, ed. All Around Suboptimal Health. Vol 18. Advances in Predictive, Preventive and Personalised Medicine. Springer Nature Switzerland; 2024:203-241. doi: 10.1007/978-3-031-46891-9_15
- Yuan B. What Personalized Medicine Humans Need and Way to It ——also on the Practical Significance and Scientific Limitations of Precision Medicine. Pharmacogenomics Pers Med. 2022;Volume 15:927-942. doi: 10.2147/PGPM.S380767
- Slamon DJ, Leyland-Jones B, Shak S, et al. Use of Chemotherapy plus a Monoclonal Antibody against HER2 for Metastatic Breast Cancer That Overexpresses HER2. N Engl J Med. 2001;344(11):783-792. doi: 10.1056/NEJM200103153441101
- Subhan MA, Yalamarty SSK, Filipczak N, Parveen F, Torchilin VP. Recent Advances in Tumor Targeting via EPR Effect for Cancer Treatment. J Pers Med. 2021;11(6):571. doi: 10.3390/jpm11060571
- Chapman PB, Hauschild A, Robert C, et al. Improved Survival with Vemurafenib in Melanoma with BRAF V600E Mutation. N Engl J Med. 2011;364(26):2507-2516. doi: 10.1056/NEJMoa1103782
- Gage B, Eby C, Johnson J, et al. Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin. Clin Pharmacol Ther. 2008;84(3):326-331. doi: 10.1038/clpt.2008.10
- Mega JL, Close SL, Wiviott SD, et al. Cytochrome P-450 Polymorphisms and Response to Clopidogrel. N Engl J Med. 2009;360(4):354-362. doi: 10.1056/NEJMoa0809171
- Li D, Mastaglia FL, Fletcher S, Wilton SD. Progress in the molecular pathogenesis and nucleic acid therapeutics for Parkinson’s disease in the precision medicine era. Med Res Rev. 2020;40(6):2650-2681. doi: 10.1002/med.21718
- Phillips EJ, Sukasem C, Whirl‐Carrillo M, et al. Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update. Clin Pharmacol Ther. 2018;103(4):574-581. doi: 10.1002/cpt.1004
- Mallal S, Phillips E, Carosi G, et al. HLA-B*5701 Screening for Hypersensitivity to Abacavir. N Engl J Med. 2008;358(6):568-579. doi: 10.1056/NEJMoa0706135
- Azuma J, Ohno M, Kubota R, et al. NAT2 genotype guided regimen reduces isoniazid-induced liver injury and early treatment failure in the 6-month four-drug standard treatment of tuberculosis: A randomized controlled trial for pharmacogenetics-based therapy. Eur J Clin Pharmacol. 2013;69(5):1091-1101. doi: 10.1007/s00228-012-1429-9
- Hulsen T. Challenges and solutions for big data in personalized healthcare. In: Big Data in Psychiatry #x0026; Neurology. Elsevier; 2021:69-94. doi: 10.1016/B978-0-12-822884-5.00016-7
- Caudle KE, Sangkuhl K, Whirl‐Carrillo M, et al. Standardizing CYP 2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group. Clin Transl Sci. 2020;13(1):116-124. doi: 10.1111/cts.12692
- Barbarino JM, Whirl‐Carrillo M, Altman RB, Klein TE. PharmGKB: A worldwide resource for pharmacogenomic information. WIREs Syst Biol Med. 2018;10(4):e1417. doi: 10.1002/wsbm.1417
- Whirl‐Carrillo M, Huddart R, Gong L, et al. An Evidence‐Based Framework for Evaluating Pharmacogenomics Knowledge for Personalized Medicine. Clin Pharmacol Ther. 2021;110(3):563-572. doi: 10.1002/cpt.2350
- Landrum MJ, Chitipiralla S, Brown GR, et al. ClinVar: improvements to accessing data. Nucleic Acids Res. 2020;48(D1):D835-D844. doi: 10.1093/nar/gkz972
- Caudle KE, Dunnenberger HM, Freimuth RR, et al. Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC). Genet Med. 2017;19(2):215-223. doi: 10.1038/gim.2016.87
- Hicks JK, Dunnenberger HM, Gumpper KF, Haidar CE, Hoffman JM. Integrating pharmacogenomics into electronic health records with clinical decision support. Am J Health Syst Pharm. 2016;73(23):1967-1976. doi: 10.2146/ajhp160030
- Hanci Handzha L, Nakamura Y. Significance and challenges of immunopharmacogenomics. Front Immunol. 2025;16:1711887. doi: 10.3389/fimmu.2025.1711887
- Primorac D, Bach-Rojecky L, Vađunec 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
