Pathology practice and pharmacogenomics

Pharmacogenomics

Volumn 11, Issue 1, 2010, Pages 105-111

  Trent, Ronald J A ^a,b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Direct to consumer DNA testing; DNA sequencing; Education; Personalized medicine; Pharmacogenomics; Point of care testing; Probability and risk

Indexed keywords

ABACAVIR; AZATHIOPRINE; BCR ABL PROTEIN; CARBAMAZEPINE; CLONAZEPAM; CYTOCHROME P450 2C9; CYTOCHROME P450 2D6; DASATINIB; DIHYDROPYRIMIDINE DEHYDROGENASE; DNA; EPIDERMAL GROWTH FACTOR RECEPTOR 2; FLUOROURACIL; GLUCURONOSYLTRANSFERASE 1A1; HLA B ANTIGEN; HLA DQB1 ANTIGEN; IMATINIB; IRINOTECAN; LOW DENSITY LIPOPROTEIN RECEPTOR; MERCAPTOPURINE; OXIDOREDUCTASE; PHENYTOIN; TAMOXIFEN; TETRABENAZINE; THIOPURINE METHYLTRANSFERASE; TRASTUZUMAB; UNCLASSIFIED DRUG; VITAMIN K EPOXIDE REDUCTASE COMPLEX SUBUNIT 1; WARFARIN;

ACUTE LYMPHOBLASTIC LEUKEMIA; BREAST CANCER; CANCER STAGING; CLINICAL PRACTICE; COLON CANCER; CONTINUING EDUCATION; DNA DETERMINATION; FINANCIAL MANAGEMENT; GENETIC ANALYSIS; HUMAN; HUMAN GENOME PROJECT; INDIVIDUALIZATION; MEDICAL DECISION MAKING; MEDICAL RESEARCH; PATHOLOGY; PATIENT CARE; PATIENT REFERRAL; PHARMACOGENOMICS; POINT OF CARE TESTING; POLYMERASE CHAIN REACTION; PREVENTIVE MEDICINE; PROBABILITY; REVIEW; RISK ASSESSMENT; TECHNOLOGY;

GENETIC TESTING; HUMANS; INDIVIDUALIZED MEDICINE; PATHOLOGY, CLINICAL; PHARMACOGENETICS; POINT-OF-CARE SYSTEMS; SEQUENCE ANALYSIS, DNA;

EID: 73549091659     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.09.150     Document Type: Review

References (28)

1. Trent RJ: Molecular medicine. Elsevier Academic Press, CA, USA (2005).
2. Steele FR: Personalized medicine: something old, something new. Per. Med. 6, 1-5 (2009). Easy to read overview of where personalized medicine has come from and is going.
3. Phillips EJ, Mallal SA: Personalizing antiretroviral therapy: is it a reality? Per. Med. 6, 393-408 (2009).
4. Ameer B, Krivoy N: Direct-to-consumer/patient advertising of genetic testing: a position statement of the American College of Clinical Pharmacology. J. Clin. Pharmacol. 49, 886-888 (2009).
5. Price C: Point of care testing. Brit. Med. J. 322, 1285-1288 (2009).
6. Flockhart DA, Skaar T, Berlin DS, Klein TE, Nguyen AT: Clinically available pharmacogenomics tests. Clin. Pharmacol. Ther. 86, 109-113 (2009). Succinct summary of some therapeutic drugs and their associated pharmacogenetic tests. The reference provides extensive URL links to the labeling information, although these are not now active as there appears to have been changes made to the US FDA website, and packaging information for each drug will need to be individually sought.
7. Ikediobi ON, Shin J, Nussbaum RL, Phillips KA, UCSF Center for Translational and Policy Research on Personalized Medicine: Addressing the challenges of the clinical application of pharmacogenetic testing. Clin. Pharmacol. Ther. 86, 28-31 (2009). Takes the reader through the example of irinotecan with its wider ramifications in pharmacogenetic testing.
8. Zineh I, Lesko LJ: Pharmacogenetics in medicine: barriers, critical factors and a framework for dialogue. Per. Med. 6, 359-361 (2009).
9. Griggs JJ: Personalized medicine: a perk of privilege? Clin. Pharmacol. Ther. 86, 21-23 (2009).
10. Kraft P, Hunter DJ: Genetic risk prediction - are we there yet? N. Engl. J. Med. 360, 1701-1703 (2009).
11. Parkinson DR, Ziegler J: Educating for personalized medicine: a perspective from oncology. Clin. Pharmacol. Ther. 86, 23 25 (2009).
12. Tucker T, Marra M, Friedman JM: Massively parallel sequencing: the next big thing in genetic medicine. Am. J. Hum. Genet. 85, 142-154 (2009). Technical but readable overview of this important technology.
13. Pushkarev D, Neff NF, Quake SR: Single-molecule sequencing of an individual human genome. Nature Biotech. 27, 847-852 (2009).
14. Taft RJ, Pheasant M, Mattick JS: The relationship between non-protein-coding DNA and eukaryotic complexity. BioEssays 29, 288-299 (2007). Illustrates in FIGURE 1 that the ratio between nonprotein coding DNA to protein-coding sequence per haploid genome distinguishes the more complex genomes such as Homo sapiens from the less complex ones, such as microorganisms.
15. Callinan PA, Feinberg AP: The emerging science of epigenomics. Hum. Mol. Genet. 15, R95-R101 (2006). Nice overview of epigenetic and epigenomics in terms of what is being researched, as well as what might be found as the Human Epigenome Project develops.
16. US FDAs Guidance for Industry. E15 Definitions for Genomic Biomarkers, Pharmacogenomics, Pharmacogenetics, Genomic Data and Sample Coding www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatory Information/Guidances/ ucm073162.pdf (Accessed 1 December 2009) There are many definitions for pharmacogenetics and pharmacogenomics that have not helped advance knowledge into clinical practice. The definitions based on the 2008 International Conference on Harmonisation are not, in my view, particularly helpful but at least they are being promoted to bring some focus and uniformity to this field.
17. DTC DNA tests offered through 23andMe www.23andme.com/health/all/ (Accessed 1 December 2009) The list of direct-to-consusmer DNA tests ('growing every month') offered through 23andMe. Interestingly the tests are divided into clinical reports, the evidence for which comes from multiple papers, and research reports that have yet to gain sufficient evidence to be included in the clinical reports.
18. USAs Genetics and Public Policy Center at the Johns Hopkins University. www.dnapolicy.org/resources/DTCcompanieslist.pdf (Accessed 1 December 2009) This site gives a list of direct-to-consumer genetic testing companies. The list was last updated on 27 May 2009.
19. Genelex provides CYP2D6, CYP2C9, CYP2C19, NAT2 and CYP1A2 screens that the company claims will help 'your physician or pharmacist predict your particular response to many prescription, over-the-counter and herbal medicines ...' www.healthanddna.com/drug-safety-dna-testing/dna-drug-reaction-testing, ht ml (Accessed 1 December 2009)
20. UK's Human Genetics Commission report: Genes Direct. 2003 and the subsequent More Genes Direct (2007) www.hgc.gov.uk/Client/document. asp?Dodd=139&CAtegoryId=10 (Accessed 1 December 2009) Provides useful overviews of what is happening in this area. Website also contains the most recent activity, which is the development of a Common Framework of Principles for direct-to-consumer genetic testing services.
21. CD medics is an EU-sponsored program starting in 2008 to assess the point-of-care testing for celiac disease using anti-gluten antibodies and HLA typing by the primary care health practitioner www.aoecs.org/news/news.phpiid=47 (Accessed 1 December 2009)
22. Foundation for Genomics and Public Health (PHG); Burke W, Zimmern R: Moving beyond ACCE: an expanded framework for genetic test evaluation. September 2007 www.phgfoundation.org/ (Accessed 1 December 2009) Registration is needed to access this site, but it is well worthwhile as regular reports on various genetics issues from the PHG Foundation, an independent international nonprofit organization, are very well written and informative.
23. US Agency for Healthcare Research and Quality, Evidence Report/Technology Assessment Number 160. Impact on gene expression profiling tests on breast cancer outcomes www.ahrq.gov/news/pubcat/c-evid.htm (Accessed 1 December 2009)
24. US Secretary's Advisory Committee on Genetics, Health and Society. May 2008 report on Realizing the Potential of Pharmacogenomics: Opportunities and Challenges http://oba.od.nih.gov/oba/SACGHS/reports/SACGHS-PGx-report.pdf (Accessed 1 December 2009)
25. UK House of Lords report on Genomic Medicine, July 2009 www.publications.parliament.uk/pa/ld/ldsctech.htm (Accessed 1 December 2009) Timely review of the implications of genomic medicine (including pharmacogenomics) on future healthcare including the importance of training current and future health providers.
26. DNA direct website. Provides a virtual genetic counseling service allowing laboratories to identify to the referring physician where genetic counseling can be obtained www.dnadirect.com (Accessed 1 December 2009)
27. Knome www.knome.com/service/knomecomplete.html (Accessed 1 December 2009)
28. Complete Genomics www.completegenomics.com/pages/materials/ CustomerMomentumPR.pdf (Accessed 1 December 2009)