No benet for paent unnecessary exposure to

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Unformatted text preview: ohn et al. 1999, National Academy Press: Washington, D.C. Pirmohamed et al. Adverse drug reactions as cause of admission to hospital: prospective analysis of 18820 patients 2 4/22/13 Background: Pharmacogenomics •  The average response rate to drug therapy is poor •  More than 90% of drugs only work on 30 – 50% of patients - Allen Roses, GlaxoSmithKline What are the consequences of a lack of response to drugs? •  No benefit for pa=ent •  Unnecessary exposure to drugsà༎Adverse drug reac=ons •  Opportunity cost: Could have tried a different treatment •  Waste of resources –  Cost of drugs and drug treatment –  Pa=ent =me etc. Freuh, F. Accelerating Anticancer Agent Development Accelerating Anticancer Agent Development and Validation Workshop and Validation Workshop. Bethesda, MD. May 17, 2006 How can pharmacogenomics help? •  We know that a substan=al propor=on of pa=ents will not respond to drug treatment, we just don’t know which ones… How can pharmacogenomics help? Alternative Treatment? 3 4/22/13 Poten=al of PGx DNA to Proteins The right drug, at the right dose, for the right pa=ent, at the right =me. Veenstra 13 Common Genomic Varia=on •  Single nucleo=de polymorphisms (SNPs) –  Changes in single leVers –  Defined by a popula=on frequency > 1% •  Copy number varia=on: –  Changes in blocks of DNA –  Missing or extra copies Omics What can happen What appears to be happening What makes it happen What has happened and is happening Carlson 16 4 4/22/13 Gene=c Varia=on and Pharmacogenomics Ge i om n n tio a ari cV Germline mutation Somatic mutation Mutation, inherited at conception, contained in virtually every cell of the body Mutation, arising in one cell, present only in the lineages to which it gives rise •  Germline testing can be performed anytime after conception and contains future risk information for the individual and family •  Somatic testing is performed to asse...
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