Abstract
Rapid advances in pharmacogenomics research have facilitated the transfer of pharmacogenomics testing into clinical laboratories. In the past several years, the US Food and Drug Administration (FDA) has begun to recognize the importance of genetic information and has required advisories on drug labels seeking to inform physicians and patients about the availability of genetic tests to guide drug dosing and prescriptions [1]. This has furthered the desire to adopt this testing into clinical laboratories. At this time, FDA has required manufacturers of 11 drugs to modify their labels to include information on pharmacogenomics testing [2]. With the advances in pharmacogenomics and information technology fields, a new concept of genomic testing has also emerged on the market – a concept of direct-to-consumer DNA testing. Web-based companies are in the market with the goal of enabling a patient to take control of his/her own genetic testing and results. One such company, 23 & Me (www.23andme.com, accessed 04/08/10), offers a variety of genetic tests, including pharmacogenomic tests for warfarin sensitivity, 5-FU toxicity, clopidogrel efficacy, and abacavir hypersenstivity. Traditional clinical laboratories are also expanding their repertoire of pharmacogenomic testing. Therefore, it is clear that there is an increased need for rapid, reliable, and cost-effective genotyping methodologies amenable to easy adoption by the clinical laboratory community. At present, the most frequently genotyped targets are the cytochrome P450 (CYP 450) super-family and phase II drug-metabolizing enzymes such as uridine diphosphate-glucyronosyltransferase 1A1 (UGT1A1), thiopurine S-methyltransferase (TPMT), and N-acetyltransferase (NAT).
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Babic, N., Joseph, L.J., Yeo, KT.J. (2011). Molecular Diagnostic Methods in Pharmacogenomics. In: Wu, A., Yeo, KT. (eds) Pharmacogenomic Testing in Current Clinical Practice. Molecular and Translational Medicine. Humana Press. https://doi.org/10.1007/978-1-60761-283-4_2
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DOI: https://doi.org/10.1007/978-1-60761-283-4_2
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