Pharmacogenomic genotyping methodologies

  title={Pharmacogenomic genotyping methodologies},
  author={Paul J. Jannetto and Elvan Laleli-Sahin and Steven H. S. Wong},
  journal={Clinical Chemistry and Laboratory Medicine (CCLM)},
  pages={1256 - 1264}
Abstract “Personalized medicine” based on an individual’s genetic makeup is slowly becoming a reality as pharmacogenomics moves from the research setting to the clinical laboratory. Concordance studies between genotype and phenotype have shown that inherited mutations in several key drug-metabolizing enzymes, such as cytochrome P450 (CYP) 2D6, 2C9, and 2C19, result in several distinct phenotypes that lead to different individual responses following drug administration. One of the major driving… 

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  • S. KooE. Lee
  • Biology, Medicine
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With rapidly emerging SNP discovery technological platforms and widespread knowledge on the role of SNPs in disease susceptibility and variability in drug response, the pharmacogenetics approach to therapeutics is anticipated to take off in the not‐too‐distant future.

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An overview of technologies that can be applied in PGx research and clinical practice is provided, most commonly used are single nucleotide variant panels which contain a pre-selected panel of genetic variants.

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This chapter highlights several examples of these pharmacogenomic applications as they pertain to personalized medicine in the management of the cancer patient, including monoclonal antibody and small molecule therapeutics.

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Two real-time PCR-based methods are compared for the pharmacogenetic evaluation of CYP2C9*2/*3 polymorphisms: TaqMan and LightCycler.

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Molecular profiling of blood donors for minor red blood cell and platelet antigens will give blood banks instant access to many different compatible donors through the set-up of a centralized data storage system.

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The results of the present study may indicate that the ABCG 421C>A genetic polymorphism influences the MMR of imatinib in patients with CML.



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