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Review Articles

Pharmacogenomics in the era of next generation sequencing – from byte to bedside

, , , , ORCID Icon &
Pages 253-278 | Received 19 Mar 2021, Accepted 24 Mar 2021, Published online: 17 May 2021

References

  • Achour B, Al‐Majdoub ZM, Grybos‐Gajniak A, Lea K, Kilford P, Zhang M, Knight D, Barber J, Schageman J, Rostami‐Hodjegan A. 2021. Liquid biopsy enables quantification of the abundance and interindividual variability of hepatic enzymes and transporters. Clin Pharmacol Ther. 109(1):222–232.
  • Adams SM, Anderson KB, Coons JC, Smith RB, Meyer SM, Parker LS, Empey PE. 2016. Advancing pharmacogenomics education in the core PharmD curriculum through student personal genomic testing. Am J Pharm Educ. 80(1):3.
  • Aithal GP, Day CP, Kesteven PJ, Daly AK. 1999. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. The Lancet. 353(9154):717–719.
  • Almeida AM, Ramos F. 2016. Acute myeloid leukemia in the older adults. Leuk Res Rep. 6:1–7.
  • Ammar R, Paton TA, Torti D, Shlien A, Bader GD. 2015. Long read nanopore sequencing for detection of HLA and CYP2D6 variants and haplotypes. F1000Res. 4:17.
  • Bank PCD, Swen JJ, Schaap RD, Klootwijk DB, Baak-Pablo R, Guchelaar H-J. 2019. A pilot study of the implementation of pharmacogenomic pharmacist initiated pre-emptive testing in primary care. Eur J Hum Genet. 27(10):1532–1541.
  • Becker MA, Schumacher HR, Espinoza LR, Wells AF, MacDonald P, Lloyd E, Lademacher C. 2010. The urate-lowering efficacy and safety of febuxostat in the treatment of the hyperuricemia of gout: the CONFIRMS trial. Arthritis Res Ther. 12(2):R63.
  • Bethune G, Bethune D, Ridgway N, Xu Z. 2010. Epidermal growth factor receptor (EGFR) in lung cancer: an overview and update. J Thorac Dis. 2(1):48–51.
  • Bhimraj A, Morgan RL, Shumaker AH, Lavergne V, Baden L, Cheng VC, Edwards KM, Gandhi R, Muller WJ, O’Horo JC, et al. 2020. Infectious Diseases Society of America guidelines on the treatment and management of  patients with COVID-19. Clin Infect Dis. ciaa478. DOI:10.1093/cid/ciaa478.
  • Birdwell KA, Grady B, Choi L, Xu H, Bian A, Denny JC, Jiang M, Vranic G, Basford M, Cowan JD, et al. 2012. The use of a DNA biobank linked to electronic medical records to characterize pharmacogenomic predictors of tacrolimus dose requirement in kidney transplant recipients. Pharmacogenet Genomics. 22(1):32–42.
  • Brackman DJ, Yee SW, Enogieru OJ, Shaffer C, Ranatunga D, Denny JC, Wei W-Q, Kamatani Y, Kubo M, Roden DM, et al. 2019. Genome-wide association and functional studies reveal novel pharmacological mechanisms for allopurinol. Clin Pharmacol Ther. 106(3):623–631.
  • Bradley P, Shiekh M, Mehra V, Vrbicky K, Layle S, Olson MC, Maciel A, Cullors A, Garces JA, Lukowiak AA. 2018. Improved efficacy with targeted pharmacogenetic-guided treatment of patients with depression and anxiety: a randomized clinical trial demonstrating clinical utility. J Psychiatr Res. 96:100–107.
  • Bråten LS, Haslemo T, Jukic MM, Ingelman-Sundberg M, Molden E, Kringen MK. 2020. Impact of CYP2C19 genotype on sertraline exposure in 1200 Scandinavian patients. Neuropsychopharmacol. 45(3):570–576.
  • Brixner D, Biltaji E, Bress A, Unni S, Ye X, Mamiya T, Ashcraft K, Biskupiak J. 2016. The effect of pharmacogenetic profiling with a clinical decision support tool on healthcare resource utilization and estimated costs in the elderly exposed to polypharmacy. J Med Econ. 19(3):213–228.
  • Buege MJ, DiPippo AJ, DiNardo CD. 2018. Evolving treatment strategies for elderly leukemia patients with IDH mutations. Cancers. 10(6):187.
  • Burt T, Dhillon S. 2013. Pharmacogenomics in early-phase clinical development. Pharmacogenomics. 14(9):1085–1097.
  • Caraballo PJ, Bielinski SJ, St Sauver JL, Weinshilboum RM. 2017. Electronic medical record-integrated pharmacogenomics and related clinical decision support concepts. Clin Pharmacol Ther. 102(2):254–264.
  • Carr DF, la Porte CJL, Pirmohamed M, Owen A, Cortes CP. 2010. Haplotype structure of CYP2B6 and association with plasma efavirenz concentrations in a Chilean HIV cohort. J Antimicrob Chemother. 65(9):1889–1893.
  • Caudle KE, Dunnenberger HM, Freimuth RR, Peterson JF, Burlison JD, Whirl-Carrillo M, Scott SA, Rehm HL, Williams MS, Klein TE, et al. 2017. Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC). Genet Med. 19(2):215–223.
  • Chair SY, Waye MMY, Calzone K, Chan CWH. 2019. Genomics education in nursing in Hong Kong, Taiwan and Mainland China. Int Nurs Rev. 66(4):459–466.
  • Chan HT, Chin YM, Low S-K. 2019. The roles of common variation and somatic mutation in cancer pharmacogenomics. Oncol Ther. 7(1):1–32.
  • Chen H, Wu J, Zhang Z, Tang Y, Li X, Liu S, Cao S, Li X. 2018. Association between BRCA status and triple-negative breast cancer: a meta-analysis. Front Pharmacol. 9:909.
  • Chiasson M, Dunham MJ, Rettie AE, Fowler DM. 2019. Applying multiplex assays to understand variation in pharmacogenes. Clin Pharmacol Ther. 106(2):290–294.
  • Chung W-H, Hung S-I, Hong H-S, Hsih M-S, Yang L-C, Ho H-C, Wu J-Y, Chen Y-T. 2004. Medical genetics: a marker for Stevens-Johnson syndrome. Nature. 428(6982):486–486.
  • Ciszkowski C, Madadi P, Phillips MS, Lauwers AE, Koren G. 2009. Codeine, ultrarapid-metabolism genotype, and postoperative death. N Engl J Med. 361(8):827–828.
  • Clarke JD, Cherrington NJ. 2012. Genetics or environment in drug transport: the case of organic anion transporting polypeptides and adverse drug reactions. Expert Opin Drug Metab Toxicol. 8(3):349–360.
  • Collins T, Power K, McCallie D, Owings R. 2019. Finding a place for pharmacogenetics in the electronic health record. Clin Pharmacol Ther. 106(2):295–297.
  • Coronavirus Disease. (COVID-19) Treatment guidelines. National Institute of Health (NIH). 2019. [Accessed 2021 Feb 1.]. https://www.covid19treatmentguidelines.nih.gov.
  • Crisà E, Kulasekararaj AG, Adema V, Such E, Schanz J, Haase D, Shirneshan K, Best S, Mian SA, Kizilors A, et al. 2020. Impact of somatic mutations in myelodysplastic patients with isolated partial or total loss of chromosome 7. Leukemia. 34(9):2441–2450.
  • da Cunha Santos G, Shepherd FA, Tsao M-S. 2011. EGFR mutations and lung cancer. Annu Rev Pathol. 6:49–69.
  • Daly AK. 2010. Genome-wide association studies in pharmacogenomics. Nat Rev Genet. 11(4):241–246.
  • Dang L, Yen K, Attar EC. 2016. IDH mutations in cancer and progress toward development of targeted therapeutics. Ann Oncol. 27(4):599–608.
  • Davies EA, O'Mahony MS. 2015. Adverse drug reactions in special populations – the elderly. Br J Clin Pharmacol. 80(4):796–807.
  • Dehlin M, Jacobsson L, Roddy E. 2020. Global epidemiology of gout: prevalence, incidence, treatment patterns and risk factors. Nat Rev Rheumatol. 16(7):380–390.
  • Desai P, Mencia-Trinchant N, Savenkov O, Simon MS, Cheang G, Lee S, Samuel M, Ritchie EK, Guzman ML, Ballman KV, et al. 2018. Somatic mutations precede acute myeloid leukemia years before diagnosis. Nat Med. 24(7):1015–1023.
  • Desta Z, Gammal RS, Gong L, Whirl-Carrillo M, Gaur AH, Sukasem C, Hockings J, Myers A, Swart M, Tyndale RF, et al. 2019. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2B6 and efavirenz-containing antiretroviral therapy. Clin Pharmacol Ther. 106(4):726–733.
  • Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O’Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, et al. 2016. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science. 354(6319):aaf6814.
  • Dhillon S. 2018. Ivosidenib: first global approval. Drugs. 78(14):1509–1516.
  • Dorr CR, Remmel RP, Muthusamy A, Fisher J, Moriarity BS, Yasuda K, Wu B, Guan W, Schuetz EG, Oetting WS, et al. 2017. CRISPR/Cas9 genetic modification of CYP3A5 *3 in HuH-7 human hepatocyte cell line leads to cell lines with increased midazolam and tacrolimus metabolism. Drug Metab Dispos. 45(8):957–965.
  • Dugger SA, Platt A, Goldstein DB. 2018. Drug development in the era of precision medicine. Nat Rev Drug Discov. 17(3):183–196.
  • Eid J, Fehr A, Gray J, Luong K, Lyle J, Otto G, Peluso P, Rank D, Baybayan P, Bettman B, et al. 2009. Real-time DNA sequencing from single polymerase molecules. Science. 323(5910):133–138.
  • Elliott LS, Henderson JC, Neradilek MB, Moyer NA, Ashcraft KC, Thirumaran RK. 2017. Clinical impact of pharmacogenetic profiling with a clinical decision support tool in polypharmacy home health patients: a prospective pilot randomized controlled trial. PLOS One. 12(2):e0170905.
  • eMERGE Consortium. 2019. Harmonizing clinical sequencing and interpretation for the eMERGE III network. Am J Human Genet. 105:588–605.
  • FDA. Other FDA resources related to pharmacogenomics. 2021. [accessed 2021 Feb 20.] https://www.fda.gov/drugs/science-and-research-drugs/other-fda-resources-related-pharmacogenomics.
  • FDA. Table of pharmacogenomic biomarkers in drug labeling. 2021. [accessed 2021 Feb 6] https://www.fda.gov/drugs/science-and-research-drugs/table-pharmacogenomic-biomarkers-drug-labeling.
  • Feng Y, Zhang Y, Ying C, Wang D, Du C. 2015. Nanopore-based fourth-generation DNA sequencing technology. Genom Proteom Bioinform. 13(1):4–16.
  • Finn RS, Crown JP, Lang I, Boer K, Bondarenko IM, Kulyk SO, Ettl J, Patel R, Pinter T, Schmidt M, et al. 2015. The cyclin-dependent kinase 4/6 inhibitor palbociclib in combination with letrozole versus letrozole alone as first-line treatment of oestrogen receptor-positive, HER2-negative, advanced breast cancer (PALOMA-1/TRIO-18): a randomised phase 2 study. Lancet Oncol. 16(1):25–35.
  • FitzGerald JD, Dalbeth N, Mikuls T, Brignardello‐Petersen R, Guyatt G, Abeles AM, Gelber AC, Harrold LR, Khanna D, King C, et al. 2020. American College of Rheumatology guideline for the management of gout. Arthritis Care Res. 72(6):744–760. 2020).
  • Flume PA, Liou TG, Borowitz DS, Li H, Yen K, Ordoñez CL, Geller DE, VX 08-770-104 Study Group. 2012. Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest. 142(3):718–724.
  • Fowler DM, Fields S. 2014. Deep mutational scanning: a new style of protein science. Nat Methods. 11(8):801–807.
  • Frick A, Benton CS, Scolaro KL, McLaughlin JE, Bradley CL, Suzuki OT, Wang N, Wiltshire T. 2016. Transitioning pharmacogenomics into the clinical setting: training future pharmacists. Front Pharmacol. 7:241.
  • Fujikura K, Ingelman-Sundberg M, Lauschke VM. 2015. Genetic variation in the human cytochrome P450 supergene family. Pharmacogenet Genom. 25(12):584–594.
  • Fukunaga K, Hishinuma E, Hiratsuka M, Kato K, Okusaka T, Saito T, Ikeda M, Yoshida T, Zembutsu H, Iwata N, et al. 2021. Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population. J Hum Genet. 66(2):139–149.
  • Furuta T, Shirai N, Takashima M, Xiao F, Hanai H, Sugimura H, Ohashi K, Ishizaki T, Kaneko E. 2001. Effect of genotypic differences in CYP2C19 on cure rates for Helicobacter pylori infection by triple therapy with a proton pump inhibitor, amoxicillin, and clarithromycin. Clin Pharmacol Ther. 69(3):158–168.
  • Gaedigk A, Sangkuhl K, Whirl-Carrillo M, Klein T, Leeder JS. 2017. Prediction of CYP2D6 phenotype from genotype across world populations. Genet Med. 19(1):69–76.
  • Gasche Y, Daali Y, Fathi M, Chiappe A, Cottini S, Dayer P, Desmeules J. 2004. Codeine intoxication associated with ultrarapid CYP2D6 metabolism. N Engl J Med. 351(27):2827–2831.
  • Gautschi O, Milia J, Cabarrou B, Bluthgen M-V, Besse B, Smit EF, Wolf J, Peters S, Früh M, Koeberle D, et al. 2015. Targeted therapy for patients with BRAF-mutant lung cancer: results from the European EURAF cohort. J Thorac Oncol. 10(10):1451–1457.
  • Genin E, Chen D-P, Hung S-I, Sekula P, Schumacher M, Chang P-Y, Tsai S-H, Wu T-L, Bellón T, Tamouza R, et al. 2014. HLA-A*31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis. Pharmacogenomics J. 14(3):281–288.
  • Geyer CE, Forster J, Lindquist D, Chan S, Romieu CG, Pienkowski T, Jagiello-Gruszfeld A, Crown J, Chan A, Kaufman B, et al. 2006. Lapatinib plus capecitabine for HER2-positive advanced breast cancer. N Engl J Med. 355(26):2733–2743.
  • Giacomini KM, Yee SW, Mushiroda T, Weinshilboum RM, Ratain MJ, Kubo M. 2017. Genome-wide association studies of drug response and toxicity: an opportunity for genome medicine. Nat Rev Drug Discov. 16(1):1–70.
  • Gordon AS, Fulton RS, Qin X, Mardis ER, Nickerson DA, Scherer S. 2016. PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation. Pharmacogenet Genomics. 26(4):161–168.
  • Greden JF, Parikh SV, Rothschild AJ, Thase ME, Dunlop BW, DeBattista C, Conway CR, Forester BP, Mondimore FM, Shelton RC, et al. 2019. Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: A large, patient- and rater-blinded, randomized, controlled study. J Psychiatr Res. 111:59–67.
  • Gulilat M, Keller D, Linton B, Pananos AD, Lizotte D, Dresser GK, Alfonsi J, Tirona RG, Kim RB, Schwarz UI. 2020. Drug interactions and pharmacogenetic factors contribute to variation in apixaban concentration in atrial fibrillation patients in routine care. J Thromb Thrombolysis. 49(2):294–303.
  • Gulilat M, Lamb T, Teft WA, Wang J, Dron JS, Robinson JF, Tirona RG, Hegele RA, Kim RB, Schwarz UI. 2019. Targeted next generation sequencing as a tool for precision medicine. BMC Med Genomics. 12(1):81–17.
  • Gulilat M, Tang A, Gryn SE, Leong-Sit P, Skanes AC, Alfonsi JE, Dresser GK, Henderson SL, Rose RV, Lizotte DJ, et al. 2017. Interpatient variation in rivaroxaban and apixaban plasma concentrations in routine care. Can J Cardiol. 33(8):1036–1043.
  • Hachad H, Ramsey LB, Scott SA. 2019. Interpreting and implementing clinical pharmacogenetic tests: perspectives from service providers. Clin Pharmacol Ther. 106(2):298–301.
  • Han SM, Park J, Lee JH, Lee SS, Kim H, Han H, Kim Y, Yi S, Cho J-Y, Jang I-J, et al. 2017. Targeted next-generation sequencing for comprehensive genetic profiling of pharmacogenes. Clin Pharmacol Ther. 101(3):396–405.
  • Harbeck N, Penault-Llorca F, Cortes J, Gnant M, Houssami N, Poortmans P, Ruddy K, Tsang J, Cardoso F. 2019. Breast cancer. Nat Rev Dis Primers. 5(1):66.
  • Hasford J, Baccarani M, Hoffmann V, Guilhot J, Saussele S, Rosti G, Guilhot F, Porkka K, Ossenkoppele G, Lindoerfer D, et al. 2011. Predicting complete cytogenetic response and subsequent progression-free survival in 2060 patients with CML on imatinib treatment: the EUTOS score. Blood. 118(3):686–692.
  • Hauser AS, Chavali S, Masuho I, Jahn LJ, Martemyanov KA, Gloriam DE, Babu MM. 2018. Pharmacogenomics of GPCR drug targets. Cell. 172(1-2):41–54.e19.
  • Hiratsuka M. 2012. In vitro assessment of the allelic variants of cytochrome P450. Drug Metab Pharmacokinet. 27(1):68–84
  • Hochhaus A, Kreil S, Corbin AS, La Rosée P, Müller MC, Lahaye T, Hanfstein B, Schoch C, Cross NCP, Berger U, et al. 2002. Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. Leukemia. 16(11):2190–2196.
  • Hopewell JC, Ibrahim M, Hill M, Shaw PM, Braunwald E, Blaustein RO, Bowman L, Landray MJ, Sabatine MS, Collins R, On behalf of the HPS3/TIMI55–REVEAL Collaborative Group, et al. 2019. Impact of ADCY9 genotype on response to anacetrapib. Circulation. 140(11):891–898.
  • Hortobagyi GN, Stemmer SM, Burris HA, Yap Y-S, Sonke GS, Paluch-Shimon S, Campone M, Blackwell KL, André F, Winer EP, et al. 2016. Ribociclib as first-line therapy for HR-positive, advanced breast cancer. N Engl J Med. 375(18):1738–1748.
  • Huddart R, Sangkuhl K, Whirl-Carrillo M, Klein TE. 2019. Are randomized controlled trials necessary to establish the value of implementing pharmacogenomics in the clinic? Clin Pharmacol Ther. 106(2):284–286.
  • Hung S-I, Chung W-H, Liou L-B, Chu C-C, Lin M, Huang H-P, Lin Y-L, Lan J-L, Yang L-C, Hong H-S, et al. 2005. HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. Proc Natl Acad Sci. 102(11):4134–4139.
  • Hwang TJ, Carpenter D, Lauffenburger JC, Wang B, Franklin JM, Kesselheim AS. 2016. Failure of investigational drugs in late-stage clinical development and publication of trial results. JAMA Intern Med. 176(12):1826–1833.
  • Ingelman-Sundberg M. 2005. Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity. Pharmacogenomics J. 5(1):6–13.
  • Innocenti F, Undevia SD, Iyer L, Xian Chen P, Das S, Kocherginsky M, Karrison T, Janisch L, Ramírez J, Rudin CM, et al. 2004. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. JCO. 22(8):1382–1388
  • Ipe J, Swart M, Burgess KS, Skaar TC. 2017. High-throughput assays to assess the functional impact of genetic variants: a road towards genomic-driven medicine. Clin Transl Sci. 10(2):67–77.
  • Johnston SRD, Harbeck N, Hegg R, Toi M, Martin M, Shao ZM, Zhang QY, Martinez Rodriguez JL, Campone M, Hamilton E, monarchE Committee Members and Investigators, et al. 2020. Abemaciclib combined with endocrine therapy for the adjuvant treatment of HR+, HER2-, node-positive, high-risk, early breast cancer (monarchE). J Clin Oncol. 38(34):3987–3998.]
  • Jukić MM, Haslemo T, Molden E, Ingelman-Sundberg M. 2018. Impact of CYP2C19 genotype on escitalopram exposure and therapeutic failure: a retrospective study based on 2,087 Patients. Am J Psychiatry. 175(5):463–470/
  • Kalman LV, Agúndez J, Appell ML, Black JL, Bell GC, Boukouvala S, Bruckner C, Bruford E, Caudle K, Coulthard SA, et al. 2016. Pharmacogenetic allele nomenclature: international workgroup recommendations for test result reporting. Clin Pharmacol Ther. 99(2):172–185.
  • Kannangara DRW, Phipps-Green AJ, Dalbeth N, Stamp LK, Williams KM, Graham GG, Day RO, Merriman TR. 2016. Hyperuricaemia: contributions of urate transporter ABCG2 and the fractional renal clearance of urate. Ann Rheum Dis. 75(7):1363–1366.
  • Kauppila M, Backman JT, Niemi M, Lapatto-Reiniluoto O. 2021. Incidence, preventability, and causality of adverse drug reactions at a university hospital emergency department. Eur J Clin Pharmacol. 77(4):643–650.
  • Khunger A, Khunger M, Velcheti V. 2018. Dabrafenib in combination with trametinib in the treatment of patients with BRAF V600-positive advanced or metastatic non-small cell lung cancer: clinical evidence and experience. Ther Adv Respir Dis. 12:1753466618767611.
  • Kim RB. 2019. Precision medicine: lessons learned from implementation of a pharmacogenetics-based patient care program in a real-world setting. Clin Pharmacol Ther. 106(5):933–935.
  • Kirchheiner J, Seeringer A, Godoy AL, Ohmle B, Maier C, Beschoner P, Sim E-J, Viviani R. 2011. CYP2D6 in the brain: genotype effects on resting brain perfusion. Mol Psychiatry. 16(3):333–341.
  • Klein K, Tremmel R, Winter S, Fehr S, Battke F, Scheurenbrand T, Schaeffeler E, Biskup S, Schwab M, Zanger UM. 2019. A new panel-based next-generation sequencing method for ADME genes reveals novel associations of common and rare variants with expression in a human liver cohort. Front Genet. 10:7.
  • Knepper TC, McLeod HL. 2018. When will clinical trials finally reflect diversity? Nature. 557(7704):157–159.
  • Koutsilieri S, Tzioufa F, Sismanoglou D-C, Patrinos GP. 2020. Towards harmonizing guidance for genome-informed drug treatment interventions: the show must go on. Pharmacol Res. 158:104839.
  • Kowalec K, Wright GEB, Drögemöller BI, Aminkeng F, Bhavsar AP, Kingwell E, Yoshida EM, Traboulsee A, Marrie RA, Kremenchutzky M, et al. 2018. Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis. Nat Genet. 50(8):1081–1085.
  • Kozyra M, Ingelman-Sundberg M, Lauschke VM. 2017. Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response. Genet Med. 19(1):20–29.
  • Krebs K, Bovijn J, Zheng N, Lepamets M, Censin JC, Jürgenson T, Särg D, Abner E, Laisk T, Luo Y, 23andMe Research Team, et al. 2020. Genome-wide Study identifies association between HLA-B∗55:01 and self-reported penicillin allergy. Am J Hum Genet. 107(4):612–621.
  • Kumar R, Mota LC, Litoff EJ, Rooney JP, Boswell WT, Courter E, Henderson CM, Hernandez JP, Corton JC, Moore DD, et al. 2017. Compensatory changes in CYP expression in three different toxicology mouse models: CAR-null, Cyp3a-null, and Cyp2b9/10/13-null mice. PLOS One. 12(3):e0174355.
  • Kuzelicki NK, et al. 2019. Pharmacogenomics education in medical and pharmacy schools: conclusions of a global survey. Pharmacogenomics. 20:643–657.
  • Lacaze P, Ronaldson KJ, Zhang EJ, Alfirevic A, Shah H, Newman L, Strahl M, Smith M, Bousman C, Francis B, et al. 2020. Genetic associations with clozapine-induced myocarditis in patients with schizophrenia. Transl Psychiatry. 10(1):37.
  • Lamba JK, Lamba V, Yasuda K, Lin YS, Assem M, Thompson E, Strom S, Schuetz E. 2004. Expression of constitutive androstane receptor splice variants in human tissues and their functional consequences. J Pharmacol Exp Ther. 311(2):811–821.
  • Lauschke VM, Ingelman-Sundberg M. 2016. Precision medicine and rare genetic variants. Trends Pharmacol Sci. 37(2):85–86.
  • Lauschke VM, Ingelman-Sundberg M. 2016. Requirements for comprehensive pharmacogenetic genotyping platforms. Pharmacogenomics. 17(8):917–924.
  • Lauschke VM, Ingelman-Sundberg M. 2016. The importance of patient-specific factors for hepatic drug response and toxicity. IJMS. 17(10):1714.
  • Lauschke VM, Ingelman-Sundberg M. 2018. How to consider rare genetic variants in personalized drug therapy. Clin Pharmacol Ther. 103(5):745–748.
  • Lauschke VM, Ingelman-Sundberg M. 2019. Prediction of drug response and adverse drug reactions: from twin studies to next generation sequencing. Eur J Pharm Sci. 130:65–77.
  • Lauschke VM, Ingelman-Sundberg M. 2020. Emerging strategies to bridge the gap between pharmacogenomic research and its clinical implementation. NPJ Genom Med. 5:9.
  • Lauschke VM, Milani L, Ingelman-Sundberg M. 2017. Pharmacogenomic biomarkers for improved drug therapy-recent progress and future developments. AAPS J. 20(1):4.
  • Lauschke VM, Zhou Y, Ingelman-Sundberg M. 2019. Novel genetic and epigenetic factors of importance for inter-individual differences in drug disposition, response and toxicity. Pharmacol Ther. 197:122–152.
  • Lee AM, et al. 2014. DPYD variants as predictors of 5-fluorouracil toxicity in adjuvant colon cancer treatment (NCCTG N0147). J Natl Cancer Instit. 106:dju298.
  • Leucht S, Helfer B, Gartlehner G, Davis JM. 2015. How effective are common medications: a perspective based on meta-analyses of major drugs. BMC Med. 13:253.
  • Li G, Guo X, Chen M, Tang L, Jiang H, Day JX, Xie Y, Peng L, Xu X, Li J, et al. 2018. Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients. PLOS One. 13(9):e0203495.
  • Liau Y, Maggo S, Miller AL, Pearson JF, Kennedy MA, Cree SL. 2019. Nanopore sequencing of the pharmacogene CYP2D6 allows simultaneous haplotyping and detection of duplications. Pharmacogenomics. 20(14):1033–1047.
  • Limdi NA, Goldstein JA, Blaisdell JA, Beasley TM, Rivers CA, Acton RT. 2007. Influence of CYP2C9 genotype on warfarin dose among African American and European Americans. Personal Med. 4(2):157–169.
  • Linderman MD, Sanderson SC, Bashir A, Diaz GA, Kasarskis A, Zinberg R, Mahajan M, Suckiel SA, Zweig M, Schadt EE. 2018. Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years. BMC Med Genomics. 11(1):5.
  • List of cleared or approved companion diagnostic devices (in vitro and imaging tools). 2021. FDA. [accessed 2021 Mar 7.] https://www.fda.gov/medical-devices/vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-vitro-and-imaging-tools.
  • Mallal S, Phillips E, Carosi G, Molina J-M, Workman C, Tomažič J, Jägel-Guedes E, Rugina S, Kozyrev O, Cid JF, et al. 2008. HLA-B*5701 screening for hypersensitivity to abacavir. N Engl J Med. 358(6):568–579.
  • Martin AM, Nolan D, Gaudieri S, Almeida CA, Nolan R, James I, Carvalho F, Phillips E, Christiansen FT, Purcell AW, et al. 2004. Predisposition to abacavir hypersensitivity conferred by HLA-B*5701 and a haplotypic Hsp70-Hom variant. Proc Natl Acad Sci. 101(12):4180–4185.
  • Martincorena I, Campbell PJ. 2015. Somatic mutation in cancer and normal cells. Science. 349(6255):1483–1489.
  • McCormack M, Alfirevic A, Bourgeois S, Farrell JJ, Kasperavičiūtė D, Carrington M, Sills GJ, Marson T, Jia X, de Bakker PIW, et al. 2011. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med. 364(12):1134–1143.
  • Medwid S, Li MMJ, Knauer MJ, Lin K, Mansell SE, Schmerk CL, Zhu C, Griffin KE, Yousif MD, Dresser GK, et al. 2019. Fexofenadine and rosuvastatin pharmacokinetics in mice with targeted disruption of organic anion transporting polypeptide 2B1. Drug Metab Dispos. 47(8):832–842.
  • Meulendijks D, Henricks LM, Sonke GS, Deenen MJ, Froehlich TK, Amstutz U, Largiadèr CR, Jennings BA, Marinaki AM, Sanderson JD, et al. 2015. Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data. Lancet Oncol. 16(16):1639–1650.
  • Meyer zu Schwabedissen HE, Oswald S, Bresser C, Nassif A, Modess C, Desta Z, Ogburn ET, Marinova M, Lütjohann D, Spielhagen C, et al. 2012. Compartment-specific gene regulation of the CAR inducer efavirenz in vivo. Clin Pharmacol Ther. 92(1):103–111.
  • Mok TS, Wu Y-L, Ahn M-J, Garassino MC, Kim HR, Ramalingam SS, Shepherd FA, He Y, Akamatsu H, Theelen WSME, et al. 2017. Osimertinib or platinum-pemetrexed in EGFR T790M-positive lung cancer. N Engl J Med. 376(7):629–640.
  • Mondesir J, Willekens C, Touat M, de Botton S. 2016. IDH1 and IDH2 mutations as novel therapeutic targets: current perspectives. J Blood Med. 7:171–180.
  • Motsinger-Reif AA, Jorgenson E, Relling MV, Kroetz DL, Weinshilboum R, Cox NJ, Roden DM. 2013. Genome-wide association studies in pharmacogenomics: successes and lessons. Pharmacogenet Genomics. 23(8):383–394.
  • Need AC, Goldstein DB. 2009. Next generation disparities in human genomics: concerns and remedies. Trends Genet. 25(11):489–494.
  • Nelson MR, Wegmann D, Ehm MG, Kessner D, St Jean P, Verzilli C, Shen J, Tang Z, Bacanu S-A, Fraser D, et al. 2012. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science. 337(6090):100–104.
  • Ngaimisi E, Mugusi S, Minzi OM, Sasi P, Riedel K-D, Suda A, Ueda N, Janabi M, Mugusi F, Haefeli WE, et al. 2010. Long-term efavirenz autoinduction and its effect on plasma exposure in HIV patients. Clin Pharmacol Ther. 88(5):676–684.
  • Nguyen CM, Mendes MAS, Ma JD. 2011. Thiopurine methyltransferase (TPMT) genotyping to predict myelosuppression risk. PLOS Curr. 3:RRN1236.
  • Nicolas E, Bertucci F, Sabatier R, Gonçalves A. 2018. Targeting BRCA deficiency in breast cancer: what are the clinical evidences and the next perspectives? Cancers. 10(12):506.
  • Norgeot B, Glicksberg BS, Butte AJ. 2019. A call for deep-learning healthcare. Nat Med. 25(1):14–15.
  • Norgeot B, Muenzen K, Peterson TA, Fan X, Glicksberg BS, Schenk G, Rutenberg E, Oskotsky B, Sirota M, Yazdany J, et al. 2020. Protected Health Information filter (Philter): accurately and securely de-identifying free-text clinical notes. NPJ Digit Med. 3:57–58.
  • Onishi-Seebacher M, Korbel JO. 2011. Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond. Bioessays. 33(11):840–850.
  • Pasanen MK, Neuvonen M, Neuvonen PJ, Niemi M. 2006. SLCO1B1 polymorphism markedly affects the pharmacokinetics of simvastatin acid. Pharmacogenet Genom. 16(12):873–879.
  • Patrinos GP, Mitropoulou C. 2017. Measuring the value of pharmacogenomics evidence. Clin Pharmacol Ther. 15:349–343.
  • Pereira B, Chin S-F, Rueda OM, Vollan H-KM, Provenzano E, Bardwell HA, Pugh M, Jones L, Russell R, Sammut S-J, et al. 2016. The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes. Nat Commun. 7:11479.
  • Pérez V, Salavert A, Espadaler J, Tuson M, Saiz-Ruiz J, Sáez-Navarro C, Bobes J, Baca-García E, Vieta E, Olivares JM, AB-GEN Collaborative Group, et al. 2017. Efficacy of prospective pharmacogenetic testing in the treatment of major depressive disorder: results of a randomized, double-blind clinical trial. BMC Psychiatry. 17(1):250.
  • Peterson TA, Doughty E, Kann MG. 2013. Towards precision medicine: advances in computational approaches for the analysis of human variants. J Mol Biol. 425(21):4047–4063.
  • Pikor LA, Ramnarine VR, Lam S, Lam WL. 2013. Genetic alterations defining NSCLC subtypes and their therapeutic implications. Lung Cancer. 82(2):179–189.
  • Pirmohamed M, Burnside G, Eriksson N, Jorgensen AL, Toh CH, Nicholson T, Kesteven P, Christersson C, Wahlström B, Stafberg C, et al. 2013. A randomized trial of genotype-guided dosing of warfarin. N Engl J Med. 369(24):2294–2303.
  • Pirmohamed M, Hughes DA. 2013. Pharmacogenetic tests: the need for a level playing field. Nat Rev Drug Discov. 12(1):3–4.
  • Planchard D, Smit EF, Groen HJM, Mazieres J, Besse B, Helland Å, Giannone V, D'Amelio AM, Zhang P, Mookerjee B, et al. 2017. Dabrafenib plus trametinib in patients with previously untreated BRAFV600E-mutant metastatic non-small-cell lung cancer: an open-label, phase 2 trial. Lancet Oncol. 18(10):1307–1316.
  • Pritchard DE, Moeckel F, Villa MS, Housman LT, McCarty CA, McLeod HL. 2017. Strategies for integrating personalized medicine into healthcare practice. Per Med. 14(2):141–152.
  • Pui C-H, Nichols KE, Yang JJ. 2019. Somatic and germline genomics in paediatric acute lymphoblastic leukaemia. Nat Rev Clin Oncol. 16(4):227–240.
  • Pulte D, Jansen L, Brenner H. 2020. Changes in long term survival after diagnosis with common hematologic malignancies in the early 21st century. Blood Cancer J. 10(5):56.
  • Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, Dřevínek P, Griese M, McKone EF, Wainwright CE, Konstan MW, et al. 2011. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med. 365(18):1663–1672.
  • Rautureau Y, Deschambault V, Higgins M-È, Rivas D, Mecteau M, Geoffroy P, Miquel G, Uy K, Sanchez R, Lavoie V, et al. 2018. ADCY9 (Adenylate Cyclase Type 9) inactivation protects from atherosclerosis only in the absence of CETP(Cholesteryl Ester Transfer Protein). Circulation. 138(16):1677–1692.
  • Relling MV, Evans WE. 2015. Pharmacogenomics in the clinic. Nature. 526(7573):343–350.
  • Rodrigues D, Rowland A. 2019. From endogenous compounds as biomarkers to plasma-derived nanovesicles as liquid biopsy; has the golden age of translational pharmacokinetics-absorption, distribution, metabolism, excretion-drug-drug interaction science finally arrived? Clin Pharmacol Ther. 105(6):1407–1420.
  • Rossari F, Minutolo F, Orciuolo E. 2018. Past, present, and future of Bcr-Abl inhibitors: from chemical development to clinical efficacy. J Hematol Oncol. 11(1):84.
  • Rowland A, Ruanglertboon W, van Dyk M, Wijayakumara D, Wood LS, Meech R, Mackenzie PI, Rodrigues AD, Marshall J-C, Sorich MJ. 2019. Plasma extracellular nanovesicle (exosome)-derived biomarkers for drug metabolism pathways: a novel approach to characterize variability in drug exposure. Br J Clin Pharmacol. 85(1):216–226.
  • Russell LE, DeGorter MK, Ho RH, Leake BF, Schmerk CL, Mansell SE, Kim RB. 2021. Mouse NTCP-mediated rosuvastatin uptake in vitro and in Slc10a1-deficient mice. AAPS J. 23(1):17.
  • Russell LE, Schwarz UI. 2020. Variant discovery using next-generation sequencing and its future role in pharmacogenetics. Pharmacogenomics. 21(7):471–486.
  • Russell LE, Zhou Y, Lauschke VM, Kim RB. 2020. In vitro functional characterization and in silico prediction of rare genetic variation in the bile acid and drug transporter, Na+-taurocholate cotransporting polypeptide (NTCP, SLC10A1. Mol Pharmaceutics. 17(4):1170–1181.
  • Sabir SR, Yeoh S, Jackson G, Bayliss R. 2017. EML4-ALK variants: biological and molecular properties, and the implications for patients. Cancers. 9:1–9.
  • Sazonovs A, Kennedy NA, Moutsianas L, Heap GA, Rice DL, Reppell M, Bewshea CM, Chanchlani N, Walker GJ, Perry MH, PANTS Consortium, et al. 2020. HLA-DQA1*05 carriage associated with development of anti-drug antibodies to infliximab and adalimumab in patients with Crohn's disease. Gastroenterology. 158(1):189–199.
  • Schaller L, Lauschke VM. 2019. The genetic landscape of the human solute carrier (SLC) transporter superfamily. Hum Genet. 138(11–12):1359–1377.
  • Schärfe CPI, Tremmel R, Schwab M, Kohlbacher O, Marks DS. 2017. Genetic variation in human drug-related genes. Genome Med. 9(1):117–115.
  • Schmid P, Adams S, Rugo HS, Schneeweiss A, Barrios CH, Iwata H, Diéras V, Hegg R, Im S-A, Shaw Wright G, et al. 2018. Atezolizumab and Nab-paclitaxel in advanced triple-negative breast cancer. N Engl J Med. 379(22):2108–2121.
  • Schwartz GG, Olsson AG, Abt M, Ballantyne CM, Barter PJ, Brumm J, Chaitman BR, Holme IM, Kallend D, Leiter LA, et al. 2012. Effects of dalcetrapib in patients with a recent acute coronary syndrome. N Engl J Med. 367(22):2089–2099.
  • Schwarz UI, Meyer zu Schwabedissen HE, Tirona RG, Suzuki A, Leake BF, Mokrab Y, Mizuguchi K, Ho RH, Kim RB. 2011. Identification of novel functional organic anion-transporting polypeptide 1B3 polymorphisms and assessment of substrate specificity. Pharmacogenet Genomics. 21(3):103–114.
  • Schwarze K, Buchanan J, Taylor JC, Wordsworth S. 2018. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet Med. 20(10):1122–1130.
  • SEARCH Collaborative Group, Link E, Parish S, Armitage J, Bowman L, Heath S, Matsuda F, Gut I, Lathrop M, Collins R. 2008. SLCO1B1 variants and statin-induced myopathy–a genomewide study. New Eng J Med. 359:789–799.
  • Shallis RM, Wang R, Davidoff A, Ma X, Zeidan AM. 2019. Epidemiology of acute myeloid leukemia: Recent progress and enduring challenges. Blood Rev. 36:70–87.
  • Shekhani R, Steinacher L, Swen JJ, Ingelman-Sundberg M. 2020. Evaluation of current regulation and guidelines of pharmacogenomic drug labels: opportunities for improvements. Clin Pharmacol Ther. 107(5):1240–1255.
  • Shuldiner AR. 2009. Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. JAMA. 302(8):849–857.
  • Sim SC, Kacevska M, Ingelman-Sundberg M. 2013. Pharmacogenomics of drug-metabolizing enzymes: a recent update on clinical implications and endogenous effects. Pharmacogenomics J. 13(1):1–11.
  • Sodhi JK, Liu S, Benet LZ. 2020. Intestinal efflux transporters P-gp and BCRP are not clinically relevant in apixaban disposition. Pharm Res. 37(10):208–213.
  • Spear BB, Heath-Chiozzi M, Huff J. 2001. Clinical application of pharmacogenetics. Trends Mol Med. 7(5):201–204.
  • Spring LM, Wander SA, Zangardi M, Bardia A. 2019. CDK 4/6 inhibitors in breast cancer: current controversies and future directions. Curr Oncol Rep. 21(3):25.
  • St Sauver JL, Bielinski SJ, Olson JE, Bell EJ, Mc Gree ME, Jacobson DJ, McCormick JB, Caraballo PJ, Takahashi PY, Roger VL, et al. 2016. Integrating pharmacogenomics into clinical practice: promise vs reality. Am J Med. 129(10):1093–1099.
  • Suiter CC, Moriyama T, Matreyek KA, Yang W, Scaletti ER, Nishii R, Yang W, Hoshitsuki K, Singh M, Trehan A, et al. 2020. Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity. Proc Natl Acad Sci USA. 117(10):5394–5401.
  • Takahashi T, Luzum JA, Nicol MR, Jacobson PA. 2020. Pharmacogenomics of COVID-19 therapies. NPJ Genom Med. 5:35.
  • Takechi T, Hirota T, Sakai T, Maeda N, Kobayashi D, Ieiri I. 2018. Interindividual differences in the expression of ATP-binding cassette and solute carrier family transporters in human skin: DNA methylation regulates transcriptional activity of the human ABCC3 gene. Drug Metab Dispos. 46(5):628–635.
  • Takeuchi F, McGinnis R, Bourgeois S, Barnes C, Eriksson N, Soranzo N, Whittaker P, Ranganath V, Kumanduri V, McLaren W, et al. 2009. A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. PLOS Genet. 5(3):e1000433-1000439.
  • Tardif J-C, Rhéaume E, Lemieux Perreault L-P, Grégoire JC, Feroz Zada Y, Asselin G, Provost S, Barhdadi A, Rhainds D, L’Allier PL, et al. 2015. Pharmacogenomic determinants of the cardiovascular effects of dalcetrapib. Circ Cardiovasc Genet. 8(2):372–382.
  • Tasa T, Krebs K, Kals M, Mägi R, Lauschke VM, Haller T, Puurand T, Remm M, Esko T, Metspalu A, et al. 2019. Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. Eur J Hum Genet. 27(3):442–454.
  • Thomas J, Wang L, Clark RE, Pirmohamed M. 2004. Active transport of imatinib into and out of cells: implications for drug resistance. Blood. 104(12):3739–3745.
  • Tyndale RF, Droll KP, Sellers EM. 1997. Genetically deficient CYP2D6 metabolism provides protection against oral opiate dependence. Pharmacogenetics. 7:375–379.
  • Tzvetkov MV. 2017. OCT1 pharmacogenetics in pain management: is a clinical application within reach? Pharmacogenomics. 18(16):1515–1523.
  • Ueshima S, Hira D, Fujii R, Kimura Y, Tomitsuka C, Yamane T, Tabuchi Y, Ozawa T, Itoh H, Horie M, et al. 2017. Impact of ABCB1, ABCG2, and CYP3A5 polymorphisms on plasma trough concentrations of apixaban in Japanese patients with atrial fibrillation. Pharmacogenet Genom. 27(9):329–336.
  • van de Steeg E, Wagenaar E, van der Kruijssen CMM, Burggraaff JEC, de Waart DR, Elferink RPJO, Kenworthy KE, Schinkel AH. 2010. Organic anion transporting polypeptide 1a/1b-knockout mice provide insights into hepatic handling of bilirubin, bile acids, and drugs. J Clin Invest. 120(8):2942–2952.
  • van der Baan FH, Klungel OH, Egberts ACG, Leufkens HG, Grobbee DE, Roes KCB, Knol MJ. 2011. Pharmacogenetics in randomized controlled trials: considerations for trial design. Pharmacogenomics. 12(10):1485–1492.
  • van der Wouden CH, Cambon-Thomsen A, Cecchin E, Cheung KC, Dávila-Fajardo CL, Deneer VH, Dolžan V, Ingelman-Sundberg M, Jönsson S, Karlsson MO, Ubiquitous Pharmacogenomics Consortium, et al. 2017. Implementing pharmacogenomics in Europe: design and implementation strategy of the ubiquitous pharmacogenomics consortium. Clin Pharmacol Ther. 101(3):341–358.
  • van Dijk EL, Jaszczyszyn Y, Naquin D, Thermes C. 2018. The third revolution in sequencing technology. Trends Genet. 34(9):666–681.
  • Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, et al. 2016. Association of arrhythmia-related genetic variants with phenotypes documented in electronic medical records. JAMA. 315(1):47–57.
  • Van Goor F, Hadida S, Grootenhuis PDJ, Burton B, Stack JH, Straley KS, Decker CJ, Miller M, McCartney J, Olson ER, et al. 2011. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809. Proc Natl Acad Sci USA. 108(46):18843–18848.
  • Van Goor F, Hadida S, Grootenhuis PD, Burton B, Cao D, Neuberger T, Turnbull A, Singh A, Joubran J, Hazlewood A, et al. 2009. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci USA. 106:18825–18830.
  • Van Kuilenburg AB, et al. 2000. Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. Clin Cancer Res. 6:4705–4712.
  • Verbelen M, Weale ME, Lewis CM. 2017. Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet? Pharmacogenomics J. 17(5):395–402.
  • Vest BM, Wray LO, Brady LA, Thase ME, Beehler GP, Chapman SR, Hull LE, Oslin DW. 2020. Primary care and mental health providers' perceptions of implementation of pharmacogenetics testing for depression prescribing. BMC Psychiatry. 20(1):518.
  • Viviani R, Messina I, Bosch JE, Dommes L, Paul A, Schneider KL, Scholl C, Stingl JC. 2020. Effects of genetic variability of CYP2D6 on neural substrates of sustained attention during on-task activity. Transl Psychiatry. 10(1):338–339.
  • Wagner JB, Abdel-Rahman S, Van Haandel L, Gaedigk A, Gaedigk R, Raghuveer G, Kauffman R, Leeder JS. 2018. Impact of SLCO1B1 genotype on pediatric simvastatin acid pharmacokinetics. J Clin Pharmacol. 58(6):823–833.
  • Weitzel KW, Aquilante CL, Johnson S, Kisor DF, Empey PE. 2016. Educational strategies to enable expansion of pharmacogenomics-based care. Am J Health Syst Pharm. 73(23):1986–1998.
  • Wen CC, Yee SW, Liang X, Hoffmann TJ, Kvale MN, Banda Y, Jorgenson E, Schaefer C, Risch N, Giacomini KM. 2015. Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. Clin Pharmacol Ther. 97(5):518–525.
  • Wilke RA, Xu H, Denny JC, Roden DM, Krauss RM, McCarty CA, Davis RL, Skaar T, Lamba J, Savova G. 2011. The emerging role of electronic medical records in pharmacogenomics. Clin Pharmacol Ther. 89(3):379–386.
  • Wouden CH, van Rhenen MH, Jama WOM, Ingelman‐Sundberg M, Lauschke VM, Konta L, Schwab M, Swen JJ, Guchelaar H‐J. 2019. Development of the PGx-passport: a panel of actionable germline genetic variants for pre-emptive pharmacogenetic testing. Clin Pharmacol Ther. 106(4):866–873.
  • Wrenbeck EE, Klesmith JR, Stapleton JA, Adeniran A, Tyo KEJ, Whitehead TA. 2016. Plasmid-based one-pot saturation mutagenesis. Nat Methods. 13(11):928–930.
  • Wright GEB, Carleton B, Hayden MR, Ross CJD. 2018. The global spectrum of protein-coding pharmacogenomic diversity. Pharmacogenomics J. 18(1):187–195.
  • Xiao Q, Zhou Y, Lauschke VM. 2020. Ethnogeographic and inter-individual variability of human ABC transporters. Hum Genet. 139(5):623–646.
  • Xu Z-q, Zhang Y, Li N, Liu P-j, Gao L, Gao X, Tie X-j. 2017. Efficacy and safety of lapatinib and trastuzumab for HER2-positive breast cancer: a systematic review and meta-analysis of randomised controlled trials. BMJ Open. 7(3):e013053.
  • Yan C, Pattabiraman N, Goecks J, Lam P, Nayak A, Pan Y, Torcivia-Rodriguez J, Voskanian A, Wan Q, Mazumder R. 2017. Impact of germline and somatic missense variations on drug binding sites. Pharmacogenomics J. 17(2):128–136.
  • Young J, Bhattacharya K, Ramachandran S, Lee A, Bentley JP. 2021. Rates of genetic testing in patients prescribed drugs with pharmacogenomic information in FDA-approved labeling. The Pharmacogenomics Journal. 319:2379–2378.
  • Zanger UM, Schwab M. 2013. Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation. Pharmacol Ther. 138(1):103–141.
  • Zhang B, Lauschke VM. 2019. Genetic variability and population diversity of the human SLCO (OATP) transporter family. Pharmacol Res. 139:550–559.
  • Zhang L, Sarangi V, Moon I, Yu J, Liu D, Devarajan S, Reid JM, Kalari KR, Wang L, Weinshilboum R. 2020. CYP2C9 and CYP2C19: deep mutational scanning and functional characterization of genomic missense variants. Clin Transl Sci. 13(4):727–742.
  • Zheng LY, Rifkin BR, Spielman AI, London L, London SD. 2019. The Teaching of personalized dentistry in North American dental schools: changes from 2014 to 2017. J Dent Educ. 83(9):1065–1075.
  • Zhou Y, Dagli Hernandez C, Lauschke VM. 2020. Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier. Br J Cancer. 123(12):1782–1789.
  • Zhou Y, Fujikura K, Mkrtchian S, Lauschke VM. 2018. Computational methods for the pharmacogenetic interpretation of next generation sequencing data. Front Pharmacol. 9:1437.
  • Zhou Y, Herras Arribas G, Turku A, Jürgenson T, Mkrtchian S, Krebs K, Wang Y, Svobodova B, Milani L, Schulte G, et al. Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine. Sci Adv. (Under consideration).
  • Zhou Y, Ingelman-Sundberg M, Lauschke VM. 2017. Worldwide distribution of cytochrome P450 alleles: a meta-analysis of population-scale sequencing projects. Clin Pharmacol Ther. 102(4):688–700.
  • Zhou Y, Krebs K, Milani L, Lauschke VM. 2021. Global frequencies of clinically important HLA alleles and their implications for the cost-effectiveness of preemptive pharmacogenetic testing. Clin Pharmacol Ther. 109(1):160–174.
  • Zhou Y, Mkrtchian S, Kumondai M, Hiratsuka M, Lauschke VM. 2019. An optimized prediction framework to assess the functional impact of pharmacogenetic variants. Pharmacogenomics J. 19(2):115–126.