Pharmacogenomics and Individualized Medicine: Translating Science into Practice

Overview

Journal Clin Pharmacol Ther

Publisher Wiley

Specialty Pharmacology

Date 2012 Sep 6

PMID 22948889

Citations 101

Authors

K R Crews

J K Hicks

C-H Pui

M V Relling

W E Evans

Affiliations

Soon will be listed here.

Abstract

Research on genes and medications has advanced our understanding of the genetic basis of individual drug responses. The aim of pharmacogenomics is to develop strategies for individualizing therapy for patients, in order to optimize outcome through knowledge of the variability of the human genome and its influence on drug response. Pharmacogenomics research is translational in nature and ranges from discovery of genotype-phenotype relationships to clinical trials that can provide proof of clinical impact. Advances in pharmacogenomics offer significant potential for subsequent clinical application in individual patients; however, the translation of pharmacogenomics research findings into clinical practice has been slow. Key components to successful clinical implementation of pharmacogenomics will include consistent interpretation of pharmacogenomics test results, availability of clinical guidelines for prescribing on the basis of test results, and knowledge-based decision support systems.

Citing Articles

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang L, Yu B, Peng Y, Mou K, Zhan Y, Wang Y Innovation (Camb). 2025; 6(2):100773.

PMID: 39991480 PMC: 11846038. DOI: 10.1016/j.xinn.2024.100773.

Pharmacogenetic Testing in the Outpatient Setting in Switzerland: A Descriptive Study Using Swiss Claims Data.

Wittwer N, Meier C, Huber C, Zu Schwabedissen H, Allemann S, Schneider C Drug Saf. 2025; .

PMID: 39976874 DOI: 10.1007/s40264-025-01522-z.

Genetic Diversity Landscape in African Population: A Review of Implications for Personalized and Precision Medicine.

Sibomana O Pharmgenomics Pers Med. 2024; 17:487-496.

PMID: 39555236 PMC: 11566596. DOI: 10.2147/PGPM.S485452.

Genetic ancestry in population pharmacogenomics unravels distinct geographical patterns related to drug toxicity.

Karamperis K, Katz S, Melograna F, Ganau F, Van Steen K, Patrinos G iScience. 2024; 27(10):110916.

PMID: 39391720 PMC: 11465127. DOI: 10.1016/j.isci.2024.110916.

Comprehensive Review of Anesthetic Evaluation and Management in Obese Female Patients Undergoing In Vitro Fertilization.

Petkar S, Chakole V, Nayak A Cureus. 2023; 15(10):e47521.

PMID: 38021482 PMC: 10664690. DOI: 10.7759/cureus.47521.

References

Eichelbaum M, Ingelman-Sundberg M, Evans W . Pharmacogenomics and individualized drug therapy. Annu Rev Med. 2006; 57:119-37. DOI: 10.1146/annurev.med.56.082103.104724. View

Hughes A, Spreen W, Mosteller M, Warren L, Lai E, Brothers C . Pharmacogenetics of hypersensitivity to abacavir: from PGx hypothesis to confirmation to clinical utility. Pharmacogenomics J. 2008; 8(6):365-74. DOI: 10.1038/tpj.2008.3. View

Sachidanandam R, Weissman D, Schmidt S, Kakol J, Stein L, Marth G . A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001; 409(6822):928-33. DOI: 10.1038/35057149. View

Altman R . Pharmacogenomics: "noninferiority" is sufficient for initial implementation. Clin Pharmacol Ther. 2011; 89(3):348-50. DOI: 10.1038/clpt.2010.310. View

Eichler E, Nickerson D, Altshuler D, Bowcock A, Brooks L, Carter N . Completing the map of human genetic variation. Nature. 2007; 447(7141):161-5. PMC: 2685471. DOI: 10.1038/447161a. View

Suhre K, Shin S, Petersen A, Mohney R, Meredith D, Wagele B . Human metabolic individuality in biomedical and pharmaceutical research. Nature. 2011; 477(7362):54-60. PMC: 3832838. DOI: 10.1038/nature10354. View

Stanek E, Sanders C, Taber K, Khalid M, Patel A, Verbrugge R . Adoption of pharmacogenomic testing by US physicians: results of a nationwide survey. Clin Pharmacol Ther. 2012; 91(3):450-8. DOI: 10.1038/clpt.2011.306. View

McLeod H, Isaacs K . Preemptive pharmacogenetic testing: insufficient data equal unsatisfactory guidance. Ann Intern Med. 2011; 154(12):842-4. DOI: 10.7326/0003-4819-154-12-201106210-00016. View

McCullough K, Formea C, Berg K, Burzynski J, Cunningham J, Ou N . Assessment of the pharmacogenomics educational needs of pharmacists. Am J Pharm Educ. 2011; 75(3):51. PMC: 3109805. DOI: 10.5688/ajpe75351. View

10.

Kirchheiner J, Schmidt H, Tzvetkov M, Keulen J, Lotsch J, Roots I . Pharmacokinetics of codeine and its metabolite morphine in ultra-rapid metabolizers due to CYP2D6 duplication. Pharmacogenomics J. 2006; 7(4):257-65. DOI: 10.1038/sj.tpj.6500406. View

11.

Daly A . Genome-wide association studies in pharmacogenomics. Nat Rev Genet. 2010; 11(4):241-6. DOI: 10.1038/nrg2751. View

12.

Hamburg M, Collins F . The path to personalized medicine. N Engl J Med. 2010; 363(4):301-4. DOI: 10.1056/NEJMp1006304. View

13.

Crews K, Cross S, McCormick J, Baker D, Molinelli A, Mullins R . Development and implementation of a pharmacist-managed clinical pharmacogenetics service. Am J Health Syst Pharm. 2011; 68(2):143-50. PMC: 3228517. DOI: 10.2146/ajhp100113. View

14.

Abecasis G, Altshuler D, Auton A, Brooks L, Durbin R, Gibbs R . A map of human genome variation from population-scale sequencing. Nature. 2010; 467(7319):1061-73. PMC: 3042601. DOI: 10.1038/nature09534. View

15.

Shields A, Lerman C . Anticipating clinical integration of pharmacogenetic treatment strategies for addiction: are primary care physicians ready?. Clin Pharmacol Ther. 2008; 83(4):635-9. DOI: 10.1038/clpt.2008.4. View

16.

Sofi F, Giusti B, Marcucci R, Gori A, Abbate R, Gensini G . Cytochrome P450 2C19*2 polymorphism and cardiovascular recurrences in patients taking clopidogrel: a meta-analysis. Pharmacogenomics J. 2010; 11(3):199-206. DOI: 10.1038/tpj.2010.21. View

17.

Dudley J, Sirota M, Shenoy M, Pai R, Roedder S, Chiang A . Computational repositioning of the anticonvulsant topiramate for inflammatory bowel disease. Sci Transl Med. 2011; 3(96):96ra76. PMC: 3479650. DOI: 10.1126/scitranslmed.3002648. View

18.

Wong W, Carlson J, Thariani R, Veenstra D . Cost effectiveness of pharmacogenomics: a critical and systematic review. Pharmacoeconomics. 2010; 28(11):1001-13. DOI: 10.2165/11537410-000000000-00000. View

19.

Robarge J, Li L, Desta Z, Nguyen A, Flockhart D . The star-allele nomenclature: retooling for translational genomics. Clin Pharmacol Ther. 2007; 82(3):244-8. DOI: 10.1038/sj.clpt.6100284. View

20.

Hoffmeyer S, Burk O, von Richter O, Arnold H, Brockmoller J, Johne A . Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci U S A. 2000; 97(7):3473-8. PMC: 16264. DOI: 10.1073/pnas.97.7.3473. View