The Landscape of Clinical Implementation of Pharmacogenetic Testing in Central China: A Single-Center Study

References

• Relling M, Evans W. Pharmacogenomics in the clinic. Nature. 2015;526(7573):343–350. doi:10.1038/nature15817
   PubMed Web of Science ®Google Scholar
• Cecchin E, Stocco G. Pharmacogenomics and personalized medicine. Genes. 2020;11(6):679. doi:10.3390/genes11060679
   PubMed Web of Science ®Google Scholar
• Marin JJG, Serrano MA, Monte MJ, et al. Role of genetic variations in the hepatic handling of drugs. Int J Mol Sci. 2020;21(8):2884. doi:10.3390/ijms21082884
   Web of Science ®Google Scholar
• van der Wouden CH, van Rhenen MH, Jama W, et al. Development of the PGx-passport: a panel of actionable germline genetic variants for pre-emptive pharmacogenetic testing. Clin Pharmacol Ther. 2019;106(4):866–873. doi:10.1002/cpt.1489
   PubMed Web of Science ®Google Scholar
• Simon T, Verstuyft C, Mary-Krause M, et al. Genetic determinants of response to clopidogrel and cardiovascular events. N Engl J Med. 2009;360(4):363–375. doi:10.1056/NEJMoa0808227
   PubMed Web of Science ®Google Scholar
• Paré G, Mehta SR, Yusuf S, et al. Effects of CYP2C19 genotype on outcomes of clopidogrel treatment. N Engl J Med. 2010;363(18):1704–1714. doi:10.1056/NEJMoa.1008410
   PubMed Web of Science ®Google Scholar
• Martin J, Williams AK, Klein MD, et al. Frequency and clinical outcomes of CYP2C19 genotype-guided escalation and de-escalation of antiplatelet therapy in a real-world clinical setting. Genet Med. 2020;22(1):160–169. doi:10.1038/s41436-019-0611-1
   PubMed Web of Science ®Google Scholar
• Frigon MP, Mè B, Dubois-Bouchard C, Gagnon AL, Tardif S, Tremblay K. Pharmacogenetic testing in primary care practice: opinions of physicians, pharmacists and patients. Pharmacogenomics. 2019;20(8):589–598. doi:10.2217/pgs-2019-0004
   PubMed Web of Science ®Google Scholar
• Albassam A, Alshammari S, Ouda G, Koshy S, Awad A. Knowledge, perceptions and confidence of physicians and pharmacists towards pharmacogenetics practice in Kuwait. PLoS One. 2018;13(9):e0203033. doi:10.1371/journal.pone.0203033
   PubMed Web of Science ®Google Scholar
• Keeling NJ, Rosenthal MM, West-Strum D, Patel AS, Haidar CE, Hoffman JM. Preemptive pharmacogenetic testing: exploring the knowledge and perspectives of US payers. Genet Med. 2019;21(5):1224–1232. doi:10.1038/gim.2017.181
   PubMed Web of Science ®Google Scholar
• Wagner M, Jasek M, Karabon L. Immune checkpoint molecules-inherited variations as markers for cancer risk. Front Immunol. 2021;11:606721. doi:10.3389/fimmu.2020.606721
   PubMed Web of Science ®Google Scholar
• Brunham LR, Baker S, Mammen A, Mancini GBJ, Rosenson RS. Role of genetics in the prediction of statin-associated muscle symptoms and optimization of statin use and adherence. Cardiovasc Res. 2018;114(8):1073–1081. doi:10.1093/cvr/cvy119
   PubMed Web of Science ®Google Scholar
• van der Wouden CH, Swen JJ, Samwald M, Mitropoulou C, Schwab M, Guchelaar HJ. A brighter future for the implementation of pharmacogenomic testing. Eur J Hum Genet. 2016;24(12):1658–1660. doi:10.1038/ejhg.2016.116
   Web of Science ®Google Scholar
• Sperber NR, Carpenter JS, Cavallari LH, et al. Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network. BMC Med Genomics. 2017;10(1):35. doi:10.1186/s12920-017-0273-2
   Web of Science ®Google Scholar
• Shuldiner AR, Relling MV, Peterson JF, et al. The pharmacogenomics research network translational pharmacogenetics program: overcoming challenges of real-world implementation. Clin Pharmacol Ther. 2013;94(2):207–210. doi:10.1038/clpt.2013.59
   PubMed Web of Science ®Google Scholar
• Bank P, Swen JJ, Schaap RD, Klootwijk DB, Baak-Pablo R, Guchelaar HJ. A pilot study of the implementation of pharmacogenomic pharmacist initiated pre-emptive testing in primary care. Eur J Hum Genet. 2019;27(10):1532–1541. doi:10.1038/s41431-019-0454-x
   PubMed Web of Science ®Google Scholar
• 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;102(3):397–404. doi:10.1002/cpt.668
   PubMed Web of Science ®Google Scholar
• Scott SA, Sangkuhl K, Stein CM, et al. Clinical pharmacogenetics implementation consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. Clin Pharmacol Ther. 2013;94(3):317–323. doi:10.1038/clpt.2013.105
   PubMed Web of Science ®Google Scholar
• Lima JJ, Thomas CD, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and proton pump inhibitor dosing. Clin Pharmacol Ther. 2021;109(6):1417–1423. doi:10.1002/cpt.2015
   PubMed Web of Science ®Google Scholar
• Moriyama B, Obeng AO, Barbarino J, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2C19 and voriconazole therapy. Clin Pharmacol Ther. 2017;102(1):45–51. doi:10.1002/cpt.583
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Cao Y, Xu J, Zhang Z, et al. Association study between methylenetetrahydrofolate reductase polymorphisms and unexplained recurrent pregnancy loss: a meta-analysis. Gene. 2013;514(2):105–111. doi:10.1016/j.gene.2012.10.091
   Web of Science ®Google Scholar
• Wu W, Shen O, Qin Y, et al. Methylenetetrahydrofolate reductase C677T polymorphism and the risk of male infertility: a meta-analysis. Int J Androl. 2012;35(1):18–24. doi:10.1111/j.1365-2605.2011.01147.x
   Google Scholar
• Chen H, Yang X, Lu M. Methylenetetrahydrofolate reductase gene polymorphisms and recurrent pregnancy loss in China: a systematic review and meta-analysis. Arch Gynecol Obstet. 2016;293(2):283–290. doi:10.1007/s00404-015-3894-8
   Web of Science ®Google Scholar
• Du B, Shi X, Yin C, Feng X. Polymorphisms of methalenetetrahydrofolate reductase in recurrent pregnancy loss: an overview of systematic reviews and meta-analyses. J Assist Reprod Genet. 2019;36(7):1315–1328. doi:10.1007/s10815-019-01473-2
   Web of Science ®Google Scholar
• Wan L, Li Y, Zhang Z, Sun Z, He Y, Li R. Methylenetetrahydrofolate reductase and psychiatric diseases. Transl Psychiatry. 2018;8(1):242. doi:10.1038/s41398-018-0276-6
   PubMed Web of Science ®Google Scholar
• Hua Y, Zhao H, Kong Y, Ye M. Association between the MTHFR gene and Alzheimer’s disease: a meta-analysis. Int J Neurosci. 2011;121(8):462–471. doi:10.3109/00207454.2011.578778
   PubMed Web of Science ®Google Scholar
• Hu CY, Qian ZZ, Gong FF, et al. Methylenetetrahydrofolate reductase (MTHFR) polymorphism susceptibility to schizophrenia and bipolar disorder: an updated meta-analysis. J Neural Transm. 2014;122(2):307–320. doi:10.1007/s00702-014-1261-8
   Web of Science ®Google Scholar
• Professional committee on rational clinical use of drugs, China Association of Pharmaceutical Education. Multidisciplinary expert consensus on rational clinical folic acid supplementation in china. Chin J Front Med Sci. 2020;12(11):19–36. doi:10.12037/YXQY.2020.11-05
   Google Scholar
• Mills R, Haga SB. Qualitative user evaluation of a revised pharmacogenetic educational toolkit. Pharmgenomics Pers Med. 2018;11:139–146. doi:10.2147/PGPM.S169648
   Web of Science ®Google Scholar
• O’Donnell PH, Bush A, Spitz J, et al. The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomics. Clin Pharmacol Ther. 2012;92(4):446–449. doi:10.1038/clpt.2012.117
   PubMed Web of Science ®Google Scholar
• Hung SI, Chung WH, Liou LB, et al. HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. Proc Natl Acad Sci U S A. 2005;102(11):4134–4139. doi:10.1073/pnas.0409500102
   PubMed Web of Science ®Google Scholar
• Fang H, Xu X, Kaur K, et al. A screening test for HLA-B*15:02 in a large United States patient cohort identifies broader risk of carbamazepine-induced adverse events. Front Pharmacol. 2019;10:149. doi:10.3389/fphar.2019.00149
   Web of Science ®Google Scholar
• Bank P, Swen JJ, Guchelaar HJ. Estimated nationwide impact of implementing a preemptive pharmacogenetic panel approach to guide drug prescribing in primary care in the Netherlands. BMC Med. 2019;17(1):110. doi:10.1186/s12916-019-1342-5
   Web of Science ®Google Scholar
• Qi G, Li D, Zhang X. Genetic variation of cytochrome P450 in Uyghur Chinese population. Drug Metab Pharmacokinet. 2018;33(1):55–60. doi:10.1016/j.dmpk.2017.02.002
   Web of Science ®Google Scholar
• Giannopoulou E, Katsila T, Mitropoulou C, Tsermpini EE, Patrinos GP. Integrating next-generation sequencing in the clinical pharmacogenomics workflow. Front Pharmacol. 2019;10:384. doi:10.3389/fphar.2019.00384
   Web of Science ®Google Scholar
• Ng D, Hong CS, Singh LN, Johnston JJ, Mullikin JC, Biesecker LG. Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening. Genet Med. 2017;19(3):357–361. doi:10.1038/gim.2016.105
   PubMed Web of Science ®Google Scholar
• Ingelman-Sundberg M, Mkrtchian S, Zhou Y, Lauschke VM. Integrating rare genetic variants into pharmacogenetic drug response predictions. Hum Genomics. 2018;12(1):26. doi:10.1186/s40246-018-0157-3
   PubMed Web of Science ®Google Scholar
• Laver TW, Caswell RC, Moore KA, et al. Pitfalls of haplotype phasing from amplicon-based long-read sequencing. Sci Rep. 2016;6(1):21746. doi:10.1038/srep21746
   Web of Science ®Google Scholar