pharmacogenomics
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Introduction
The science of prescription practices based on individual genetic or genomic profiles.
For example:
- prescription practices based on CYP2D6 or CYP2C19 isozymes. (see AmpliChip CYP450)
Indications
- use is clinically limited*; not routinely indicated[3]
* see HIV1 infection & specific drugs for examples
Laboratory
Clinical significance
Table
| allele | pharmaceutical | Clinical significance |
|---|---|---|
| HLA-B*15:02 | carbamazepine | SCAR |
| HLA-B*58:01 | allopurinol | SCAR |
| HLA-B*57:01 | abacavir | hypersensitivity |
| HLA-B*13:01 | dapsone/co-trimoxazole | SCAR |
| HLA-A*33:01 | terbinafine | liver injury |
| CYP2C9*3 | phenytoin | SCAR |
| TPMT/NUDT15 | thiopurine | leukopenia |
| SLCO1B1 | statin | statin myopathy |
* severe cutaneous adverse drug reactions (SCAR)[4]
More general terms
Additional terms
References
- ↑ Prescriber's Letter 12(7): 2005 Pharmacogenomics: An Update Detail-Document#: http://prescribersletter.com/(5bhgn1a4ni4cyp2tvybwfh55)/pl/ArticleDD.aspx?li=1&st=1&cs=&s=PRL&pt=3&fpt=25&dd=210706&pb=PRL (subscription needed) http://www.prescribersletter.com
- ↑ 2.0 2.1 ARUP Consult: Germline Pharmacogenetics - PGx The Physician's Guide to Laboratory Test Selection & Interpretation https://arupconsult.com/content/germline-pharmacogenetics
- ↑ 3.0 3.1 Medical Knowledge Self Assessment Program (MKSAP) 17, 18. American College of Physicians, Philadelphia 2015, 2018.
Medical Knowledge Self Assessment Program (MKSAP) 20 American College of Physicians, Philadelphia 2025 - ↑ 4.0 4.1 Wang CW, Preclaro IAC, Lin WH, et al. An updated review of genetic associations with severe adverse drug reactions: translation and implementation of pharmacogenomic testing in clinical practice. Front Pharmacol. 2022;13:886377. PMID: https://pubmed.ncbi.nlm.nih.gov/35548363 PMCID: PMC9081981