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Pharmacogenetic Tests

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Tests: TPMT, Warfarin Sensitivity Testing, Clopidogrel (CYP2C19 Genotyping), Genetic Tests for Targeted Cancer Therapy
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Elsewhere on the Web
AACC: Pharmacogenomics
Association for Molecular Pathology 
National Institutes of Health: Medicines for You
Genetics Home Reference: What is pharmacogenomics?
University of Utah Health Sciences: Pharmacogenomics Interactive Tutorial
Personalized Medicine Coalition
Mayo Clinic: Personalized medicine and pharmacogenomics

Article Sources

NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used. To access online sources, copy and paste the URL into your browser.

Sources Used in Current Review

Lesko, L. and Schmidt, S. (2013 November 29). Clinical implementation of genetic testing in medicine: a US regulatory science perspective. Br J Clin Pharmacol. 2014 Apr; 77(4): 606–611. [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/pubmed/24286486. Accessed May 2016.

Abul-Husn, N. et. al. (2014 August 13). Implementation and utilization of genetic testing in personalized medicine. Pharmgenomics Pers Med. 2014; 7: 227–240. [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157398. Accessed May 2016.

Johnson, J. and Cavallari, L. (2013 July). Pharmacogenetics and Cardiovascular Disease—Implications for Personalized Medicine. Pharmacol Rev. 2013 Jul; 65(3): 987–1009. [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698938. Accessed May 2016.

(2016 March 2, Updated). Frequently Asked Questions About Genetic and Genomic Science. National Human Genome Research Institute [On-line information]. Available online at http://www.genome.gov/19016904. Accessed May 2016.

Scott, S. (2011 December). Personalizing medicine with clinical pharmacogenetics. Genet Med. 2011 December ; 13(12): 987–995 [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3290900. Accessed May 2016.

(2006 July). Medicines by Design. National Institute of General Medical Sciences [On-line information]. Available online at http://publications.nigms.nih.gov/medbydesign. Accessed May 2016.

Dunnenberger, H. et. al. (2015). Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu Rev Pharmacol Toxicol. 2015;55:89-106.

(June 2012) Mayo Medical Laboratories. The Use of Genetics in Guiding Therapy. Available online at http://www.mayomedicallaboratories.com/articles/hottopics/2012/06-pharm/. Accessed June 2016.

(June 2016) Pharmacogenetics – PGx, ARUP Consult. Available online at https://arupconsult.com/content/opioids/?tab=tab_item-2. Accessed June 2016.

(©2015) PGxL Laboratories, Clinical Testing. Available at http://www.pgxlab.com/test-menu/ Accessed June 2016.

(Updated May 20, 2015) U.S. Food and Drug Administration. Table of Pharmacogenomic Biomarkers in Drug Labeling. Available online at http://www.fda.gov/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/ucm083378.htm. Accessed June 2016.

Sources Used in Previous Reviews

Bruns D, Ashwood E, Burtis C, eds (2007). Fundamentals of Molecular Diagnostics, Saunders Elsevier, St. Lous, Missouri, Pharmacogenetics, Chapter 12.

(June 16, 2010) MayoClinic.com. Pharmacogenomics: When drug treatment becomes personalized medicine. Available online at http://www.mayoclinic.com/health/personalized-medicine/CA00078. Accessed Feb 2012.

(February 20, 2012) Genetics Home Reference. What is pharmacogenomics? Available online at http://ghr.nlm.nih.gov/handbook/genomicresearch/pharmacogenomics. Accessed Feb 2012.

(September 19, 2011) Human Genome Project Information. Pharmacogenomics. Available online at http://www.ornl.gov/sci/techresources/Human_Genome/medicine/pharma.shtml. Accessed Feb 2012.

(February 7, 2009) Avigan M. Pharmacogenomic Biomarkers of Susceptibility to Adverse Drug Reactions: Just Around the Corner or Pie in the Sky? Medscape Reference article. Available online at http://www.medscape.com/viewarticle/586268. Accessed Feb 2012.

(November 11, 2011) Citterio L, Lanzani C, Manunta P. Polymorphisms, Hypertension and Thiazide Diuretics. Pharmacogenomics. 2011;12(11):1587-1604.

(March 31, 2004) National Center for Biotechnology Information. Pharmacogenomics. Available online at http://www.ncbi.nlm.nih.gov/About/primer/pharm.html. Accessed Feb 2012.

(February 23, 2012) U.S. Food and Drug Administration. Table of Pharmacogenomic Biomarkers in Drug Labels. Available online at http://www.fda.gov/drugs/scienceresearch/researchareas/pharmacogenetics/ucm083378.htm. Accessed Feb 2012.

(October 27, 2011) National Institute of General Medical Sciences. Medicines by Design. Available online at http://publications.nigms.nih.gov/medbydesign/. Accessed Feb 2012.

(©2012) Department of Health and Human Services. Pharmagenomics Knowledge Base. Available online at http://www.pharmgkb.org/index.jsp. Accessed Feb 2012.

(February 23, 2012) Centers for Disease Control and Prevention. Public Health Genomics. Available online at http://www.cdc.gov/genomics/. Accessed Feb 2012.

(2007 August 16). FDA Approves Updated Warfarin (Coumadin) Prescribing Information. FDA News [On-line information]. Available online at http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/2007/ucm108967.htm. Accessed Feb 2012.

Wood, S. (2007 August 20). New Warfarin Labeling Reminds Physicians About Genetic Tests to Help Guide Initial Warfarin Dosing. Medscape Medical News [On-line information]. Available online at http://www.medscape.com/viewarticle/561608. Accessed Feb 2012.

(May 27, 2010) MayoClinic.com. Cytochrome P450 genotyping test. Available online at http://www.mayoclinic.com/health/cyp450-test/MY00135. Accessed Feb 2012.

Bondy, B. and Spellmann, I. (2007 February 16). Pharmacogenetics of Antipsychotics: Useful For the Clinician? Medscape from Curr Opin Psychiatry. 2007;20(1):126-130 [On-line information]. Available online at http://www.medscape.com/viewarticle/552100. Accessed Feb 2012.

Waknine, Y. (2005 January 11). FDA Approvals: AmpliChip, Stratis ST, QuantiFERON-TB GOLD, and Others. Medscape Medical News [On-line information]. 11/25/07. Available online at http://www.medscape.com/viewarticle/497284. Accessed Feb 2012.

Heller, T. et. al. (2006). AmpliChip CYP450 GeneChip: a new gene chip that allows rapid and accurate CYP2D6 genotyping. Medscape from Ther Drug Monit. 2006; 28(5):673-7 [On-line abstract]. Available online at   http://www.medscape.com/medline/abstract/17038884. Accessed Feb 2012.

de Leon, J. et. al. (2006). The AmpliChip CYP450 genotyping test: Integrating a new clinical tool. Medscape from Mol Diagn Ther. 2006; 10(3):135-51 [On-line abstract]. Available online at http://www.medscape.com/medline/abstract/16771600. Accessed Feb 2012.

(2007 June 19). Guidance for Industry and FDA Staff - Pharmacogenetic Tests and Genetic Tests for Heritable Markers. FDA CDRH [On-line information]. Available online at http://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/ucm077862.htm. Accessed Feb 2012.

Wu, A. (2006). Tietz Clinical Guide to Laboratory Tests, Fourth Edition. Saunders Elsevier, St. Louis, Missouri. Pp 1713-1721.

Linnea Baudhuin, Phd, DABMG. Assistant Professor of Laboratory Medicine. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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