Clinical Pharmacogenetics Implementation Consortium
Go to https://cpicpgx.org/ (Links to an external site.)
(Links to an external site.)Look up and click on Guidelines
Pick a medication associated (there are 24) with a gene disorder and discuss or type in a medication. For example, Allopurinol.
https://cpicpgx.org/content/guideline/publication/allopurinol/2015/26094938.pdf (Links to an external site.)
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Human Leukocyte Antigen-B Genotype and Allopurinol Dosing: 2015 Update
Pharmacogenetic tests are slowly being integrated into clinical practice. This is partly due to the lack of specific guidelines on how to accurately modify medication dosages based on the genetic test results (Saito et al., 2016). The Clinical Pharmacogenetics Implementation Consortium (CPIC) of the National Institutes of Health’s Pharmacogenomics Research Network and the Pharmacogenomics Knowledge Base (PharmGKB) provide guidelines which help facilitate the translation of pharmacogenomic knowledge from the lab to the bedside (Saito et al., 2016). One set of guidelines that have been developed, pertain to the human leukocyte antigen-B (HLA-B) 58:01* genotype and the drug allopurinol. Allopurinol is the most commonly prescribed medication for the treatment of gout. Allopurinol is also one of the most common causes of severe cutaneous adverse reactions (SCAR). The literature review yielded 26 relevant primary studies showing an association between HLA-B*58:01 and allopurinol SCAR. These SCAR reactions include drug hypersensitivity syndrome, Stevens-Johnson syndrome and toxic epidermal necrolysis. Because of this, individuals with at least one HLA-B*58:01 allele (positive testing), cannot receive allopurinol for the treatment of gout. The 2012 American College of Rheumatology Guidelines for Management of Gout recommends testing for the HLA-B*58:01 allele in selected subpopulations who have an elevated risk for allopurinol hypersensitivity syndrome. Those individuals have been determined to be people of Korean decent with stage 3 or worse chronic kidney disease and people of Han-Chinese or Thai descent (Relling & Klein, 2018).
Relling, M.V. & Klein, T.E. (2018). CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network. Clinical Pharmacology & Therapeutics, 89(3), 464 – 467. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098762/ (Links to an external site.)
Saito, Y., Stamp, L.K., Caudle, K.E., Hershfield, M.S., McDonagh, E.M., Callaghan, J.T., Tassaneeyakul, W., Mushiroda, T., Kamatani, N., Goldspiel, B.R., Phillips, E.J., Klein, T.E., & Lee, M.T. (2016). Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update. Clinical Pharmacology & Therapeutics, 99(1), 36 –37. https://cpicpgx.org/content/guideline/publication/allopurinol/2015/26094938.pdf (Links to an external site.)