Sequence Polymorphisms & Personalized Medicine Unit 6. BIOL221T : Advanced Bioinformatics for Biotechnology. Irene Gabashvili, PhD [email protected] Pharmacogenomics - Study of genetic variation underlying differential response to drugs.
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Few genotypes predict patients drug handling with high fidelity.
Rare variants (frequency of less than 1%) cannot account for high proportion of frequently occurring ADRs
The presence of a polymorphism associated with altered drug handling is usually not a powerful predictor of the outcome.
Example, the genetic test for exon 26 of the MDR gene is not a powerful predictor for low activity of the membrane p-glycoprotein. (Because sometimes these genes will give the same amino acid sequence)