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Pharmacogenomics

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MTHFR Gene Mutation

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Mutations in the MTHFR gene can affect the metabolism of folate and drugs like methotrexate, influencing their efficacy and the risk of toxicity.

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PGx Testing

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Pharmacogenomic testing looks at genetic variations to predict an individual's response to specific medications, aiming to personalize drug therapy.

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Pharmacokinetics

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The study of how an individual's genetic makeup influences the absorption, distribution, metabolism, and excretion of drugs.

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Personalized Medicine

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An approach to disease treatment and prevention that takes into account individual differences in genes, including how these differences affect response to medications.

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Drug Toxicity

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Genetic variations can increase the risk of adverse drug reactions by affecting drug metabolism and clearance, potentially leading to drug toxicity.

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HLA-B*57:01

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A genetic variant associated with severe hypersensitivity reactions to the antiviral drug abacavir; testing for this variant is recommended before treatment.

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BCR-ABL Kinase Mutation

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A mutation associated with chronic myeloid leukemia (CML); certain tyrosine kinase inhibitors target this mutation, and resistance can develop through further mutations.

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Drug Efficacy

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Genetic factors can affect the pharmacodynamics and pharmacokinetics of drugs, thereby influencing how well a drug works for a particular individual.

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Genetic Polymorphisms

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Variations in DNA sequence that can impact drug response and safety, often by changing the function or expression of drug-metabolizing enzymes or receptors.

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UGT1A1*28

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A promoter polymorphism in the UGT1A1 gene that can lead to Gilbert syndrome and affect the metabolism of drugs like irinotecan, requiring dose adjustments.

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Pharmacodynamics

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The study of how genetic differences among individuals affect drug response at the target site, influencing efficacy and side effects.

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TPMT Gene

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This gene encodes thiopurine methyltransferase, an enzyme involved in the metabolism of thiopurine drugs; genetic variants can lead to toxicity if standard doses are used.

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Cytochrome P450 Enzymes

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A family of enzymes that play a crucial role in drug metabolism; genetic variations can lead to altered enzyme activity affecting drug efficacy and toxicity.

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VKORC1 Gene

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A gene that encodes an enzyme targeted by warfarin; genetic variations can determine the optimal dose of warfarin for anticoagulant therapy.

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CYP2C9 and VKORC1 Genotypes

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These genotypes are important for determining the appropriate dosing of warfarin, a blood thinner, to minimize the risk of bleeding or clotting.

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