Principles of Pharmacogenomics by Anita Siu, Pharm.D.
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Questions and Answers

What is the main focus of pharmacogenomics?

  • The study of drug absorption mechanisms
  • The development of new drugs
  • The study of general genetic functions
  • The study of genes' impact on drug response (correct)

    • Which term refers to a common and functional gene in pharmacogenomics?

  • Genotype
  • Single Nucleotide Polymorphism (SNP)
  • Wild type (correct)
  • Haplotype

    • In pharmacogenomics, what does the term 'Phenotype' often refer to?

  • Statistical linkage of SNPs
  • Activity of a drug-metabolizing enzyme (correct)
  • DNA sequence variation
  • Person's genetic constitution

    • What does a 'Poor Metabolizer' phenotype in pharmacogenomics indicate?

    <p>Nonfunctional protein due to two allele variants</p> Signup and view all the answers

    How is an 'Ultra-rapid Metabolizer' phenotype characterized in pharmacogenomics?

    <p>Possible gene duplication and high enzymatic activity</p> Signup and view all the answers

    What are Cytochrome P-450 enzymes primarily responsible for in drug metabolism?

    <p>Multiple genetic variants affecting drug metabolism</p> Signup and view all the answers

    What is the primary goal of the Human Genome Project?

    <p>To sequence the entire complement of human genes by 2005</p> Signup and view all the answers

    Which of the following factors is NOT considered in the current approach to medicine response?

    <p>Molecular mechanisms</p> Signup and view all the answers

    According to the passage, which of the following is a key factor that influences medicine response?

    <p>All of the above</p> Signup and view all the answers

    What is the primary goal of the novel approach to medicine response described in the passage?

    <p>To individualize the dosing regimen and improve therapeutic response while reducing adverse drug reactions</p> Signup and view all the answers

    What is the significance of the completion of the Human Genome Project on April 25, 2003?

    <p>Both a and b</p> Signup and view all the answers

    Which of the following molecular mechanisms is NOT mentioned in the passage as influencing medicine response?

    <p>Pharmacokinetics</p> Signup and view all the answers

    What is the mechanism of action of tramadol?

    <p>Agonism at the µ-opioid receptor and inhibition of neurotransmitter reuptake</p> Signup and view all the answers

    Why is tramadol not FDA approved for use in children?

    <p>Used off-label due to lack of FDA approval</p> Signup and view all the answers

    Which enzyme is responsible for metabolizing a small amount of tramadol?

    <p>CYP2D6</p> Signup and view all the answers

    What is the primary concern regarding tramadol use in poor metabolizers?

    <p>Risk of drug accumulation due to slower metabolism</p> Signup and view all the answers

    Which medication has been contraindicated by the FDA for use in children under 12 years old for pain treatment?

    <p>Thioridazine</p> Signup and view all the answers

    What is the recommended maximum dose of vortioxetine for poor metabolizers?

    <p>10 mg/day</p> Signup and view all the answers

    What is the recommended starting dose for patients with the CYP2C9*2 genotype?

    <p>5 mg/day</p> Signup and view all the answers

    Which ethnic group has the highest prevalence of the CYP2C9*2 genotype?

    <p>White</p> Signup and view all the answers

    What is the primary reason for conducting TPMT testing in patients receiving 6-mercaptopurine?

    <p>To predict the risk of hematologic toxicity</p> Signup and view all the answers

    What is the recommended action for patients with intermediate TPMT enzyme activity?

    <p>Decrease initial dose by 30-50% and follow closely</p> Signup and view all the answers

    Which metabolite of 6-mercaptopurine is considered hepatotoxic?

    <p>6-methylmercaptopurine</p> Signup and view all the answers

    What is the primary reason for the FDA's boxed warning and contraindication for codeine use in pediatrics under 12 years old?

    <p>Risk of opioid intoxication in ultra-rapid CYP2D6 metabolizers</p> Signup and view all the answers

    Which population group is most likely to experience ultra-rapid codeine metabolism?

    <p>East African, Middle Eastern, and Oceania populations</p> Signup and view all the answers

    What is the primary metabolic pathway for codeine?

    <p>Metabolism to an inactive compound, with a minor CYP2D6 pathway to morphine</p> Signup and view all the answers

    Which CYP enzyme exhibits the most clinically relevant genetic polymorphism?

    <p>CYP2D6</p> Signup and view all the answers

    What is a potential consequence of being a poor CYP2D6 metabolizer when taking codeine?

    <p>Lack of analgesic efficacy</p> Signup and view all the answers

    Which population group is least likely to experience poor CYP2D6 metabolism?

    <p>Asian populations</p> Signup and view all the answers

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