Molecular Diagnostic Methods In Pharmacogenomics
PHARMACOGENOMIC TESTING IN CURRENT CLINICAL PRACTICE: IMPLEMENTATION IN THE CLINICAL LABORATORY(2011)
摘要
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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关键词
Real-time polymerase chain reaction,Pyrosequencing,Mass spectrometry,Microarray,Allele-specific primer extension
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