MCQ Quiz: Pharmacogenomics

Pharmacogenomics (PGx) is at the forefront of personalized medicine, studying how an individual’s genetic makeup influences their response to drugs. For pharmacists, PGx is a powerful tool to optimize medication therapy, enhance efficacy, and prevent adverse drug events. The Pharm.D. curriculum integrates pharmacogenomics across various courses, from the “Principles of Drug Therapy Individualization” to advanced therapeutics and skills labs, preparing students to use resources like the Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines in practice. This quiz will test your knowledge of key gene-drug interactions, the interpretation of genetic test results, and the clinical application of pharmacogenomics in patient care.

1. Which of the following best defines pharmacogenomics?

• a) The study of how drugs are developed and manufactured.
• b) The study of how genes affect a person’s response to drugs.
• c) The study of drug distribution throughout the body.
• d) The study of a drug’s mechanism of action at the receptor level.

Answer: b) The study of how genes affect a person’s response to drugs.

**2. A patient’s specific combination of alleles for a particular gene (e.g., CYP2D6 1/2) is referred to as their:

• a) Phenotype
• b) Haplotype
• c) Genotype
• d) Karyotype

Answer: c) Genotype

3. The observable clinical trait resulting from a person’s genotype, such as being a “poor metabolizer,” is known as their:

• a) Genotype
• b) Phenotype
• c) Allele
• d) Chromosome

Answer: b) Phenotype

4. The Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines that are:

• a) Legally binding regulations for prescribing.
• b) Designed to help clinicians understand how to use genetic test results to optimize drug therapy.
• c) A list of all drugs with potential genetic interactions.
• d) Focused only on the cost-effectiveness of genetic testing.

Answer: b) Designed to help clinicians understand how to use genetic test results to optimize drug therapy.

5. Codeine is a prodrug that must be metabolized by which enzyme to its active form, morphine, to provide an analgesic effect?

• a) CYP2C19
• b) CYP3A4
• c) CYP2D6
• d) UGT1A1

Answer: c) CYP2D6

6. A patient who is a CYP2D6 ultrarapid metabolizer is prescribed codeine. What is the potential clinical consequence?

• a) A lack of analgesic effect due to insufficient conversion to morphine.
• b) An increased risk of morphine toxicity due to rapid and excessive conversion.
• c) No change in effect compared to a normal metabolizer.
• d) An increased risk of developing a rash.

Answer: b) An increased risk of morphine toxicity due to rapid and excessive conversion.

7. Clopidogrel is a prodrug that requires activation by which enzyme to exert its antiplatelet effect?

• a) CYP2D6
• b) CYP2C9
• c) CYP2C19
• d) TPMT

Answer: c) CYP2C19

8. A patient who is a CYP2C19 poor metabolizer has a percutaneous coronary intervention (PCI) and is prescribed clopidogrel. This patient is at an increased risk of:

• a) Bleeding
• b) Subtherapeutic antiplatelet effect and stent thrombosis.
• c) Hepatotoxicity
• d) Nephrotoxicity

Answer: b) Subtherapeutic antiplatelet effect and stent thrombosis.

9. Before initiating abacavir for HIV treatment, all patients must be screened for which allele to prevent a potentially fatal hypersensitivity reaction?

• a) HLA-B1502*
• b) HLA-B5701*
• c) CYP2C9 *3
• d) SLCO1B1 *5

Answer: b) HLA-B5701*

10. A patient of Southeast Asian descent is being started on carbamazepine for seizures. Screening for the HLA-B1502 allele is recommended to avoid a high risk of:*

• a) Gingival hyperplasia
• b) Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis (SJS/TEN)
• c) Agranulocytosis
• d) Hepatotoxicity

Answer: b) Stevens-Johnson Syndrome / Toxic Epidermal Necrolysis (SJS/TEN)

11. Warfarin dosing is highly variable and can be guided by genetic testing for CYP2C9 and which other gene?

• a) CYP2D6
• b) TPMT
• c) VKORC1
• d) SLCO1B1

Answer: c) VKORC1

12. A patient with a variant in the SLCO1B1 gene is at an increased risk of myopathy when taking which class of medication?

• a) Beta-blockers
• b) Statins
• c) ACE inhibitors
• d) Proton pump inhibitors

Answer: b) Statins

13. A patient with acute lymphoblastic leukemia is going to be treated with mercaptopurine. Testing for which enzyme activity or genotype is the standard of care to prevent life-threatening myelosuppression?

• a) CYP3A5
• b) UGT1A1
• c) CYP2D6
• d) TPMT or NUDT15

Answer: d) TPMT or NUDT15

**14. A kidney transplant recipient with a CYP3A5 1/1 genotype is an extensive metabolizer of tacrolimus. This patient will likely require:

• a) A significantly higher starting dose of tacrolimus.
• b) A significantly lower starting dose of tacrolimus.
• c) A switch to cyclosporine.
• d) No tacrolimus at all.

Answer: a) A significantly higher starting dose of tacrolimus.

15. A patient who is a CYP2D6 poor metabolizer is prescribed paroxetine, a strong CYP2D6 inhibitor. If they are also taking a drug metabolized by CYP2D6, this creates a:

• a) Drug-drug interaction.
• b) Drug-gene interaction.
• c) Drug-drug-gene interaction (phenoconversion).
• d) Drug-food interaction.

Answer: c) Drug-drug-gene interaction (phenoconversion).

16. The nomenclature CYP2D6 *4/*5 describes a patient’s:*

• a) Phenotype
• b) Genotype
• c) Haplotype
• d) Clinical recommendation

Answer: b) Genotype

*17. The CYP2D6 4 allele is an example of a:

• a) No function allele.
• b) Normal function allele.
• c) Increased function allele.
• d) An unknown function allele.

Answer: a) No function allele.

*18. A patient who is homozygous for a no-function allele (e.g., TPMT 3A/3A) would be classified as what kind of metabolizer?

• a) Ultrarapid
• b) Normal
• c) Intermediate
• d) Poor

Answer: d) Poor

19. What is the primary role of a pharmacist in utilizing pharmacogenomic test results?

• a) To order the genetic test.
• b) To draw the patient’s blood for the test.
• c) To interpret the test results and recommend appropriate drug therapy or dose adjustments.
• d) To perform the genetic sequencing in the lab.

Answer: c) To interpret the test results and recommend appropriate drug therapy or dose adjustments.

20. A patient taking a proton pump inhibitor (PPI) like omeprazole is found to be a CYP2C19 ultrarapid metabolizer. This could lead to:

• a) Increased risk of PPI side effects.
• b) Therapeutic failure due to rapid metabolism of the PPI.
• c) A severe allergic reaction.
• d) No clinical effect.

Answer: b) Therapeutic failure due to rapid metabolism of the PPI.

21. A “star allele” (**allele) in pharmacogenomics is used to define:

• a) A specific chromosome.
• b) The overall drug effect.
• c) A specific haplotype or variant form of a gene.
• d) A patient’s risk score.

Answer: c) A specific haplotype or variant form of a gene.

22. Which of the following is an example of a gene that codes for a drug transporter protein?

• a) CYP3A4
• b) SLCO1B1
• c) VKORC1
• d) HLA-B

Answer: b) SLCO1B1

23. As seen in the Patient Care curriculum, personalized medicine in oncology often involves testing for:

• a) The patient’s blood type.
• b) Somatic (tumor) mutations to guide targeted therapy.
• c) Germline (inherited) pharmacogenes to guide supportive care.
• d) Both B and C.

Answer: d) Both B and C.

24. The FDA drug label for which common antidepressant contains pharmacogenomic information regarding CYP2D6 and its potential impact on tamoxifen efficacy?

• a) Citalopram
• b) Paroxetine
• c) Sertraline
• d) Mirtazapine

Answer: b) Paroxetine

25. A key ethical consideration in pharmacogenomic testing is:

• a) Ensuring patient privacy and data security.
• b) The potential for genetic discrimination.
• c) Ensuring equitable access to testing.
• d) All of the above.

Answer: d) All of the above.

26. A patient who is a CYP2C9 poor metabolizer is given a standard starting dose of warfarin. They will likely have a(n) _________ and be at _________ risk of bleeding.

• a) lower INR; lower
• b) higher INR; higher
• c) higher INR; lower
• d) lower INR; higher

Answer: b) higher INR; higher

27. The term “phenoconversion” describes a situation where:

• a) A patient’s genotype changes over time.
• b) A patient’s genotype-predicted phenotype is altered by co-administered drugs that inhibit or induce enzymes.
• c) A genetic test result is incorrect.
• d) A patient converts from a poor metabolizer to an ultrarapid metabolizer.

Answer: b) A patient’s genotype-predicted phenotype is altered by co-administered drugs that inhibit or induce enzymes.

28. An important resource for pharmacists looking for clinically actionable pharmacogenomic guidelines is:

• a) Wikipedia
• b) The Clinical Pharmacogenetics Implementation Consortium (CPIC).
• c) A general drug information handbook like Drug Facts & Comparisons.
• d) The FDA’s Orange Book.

Answer: b) The Clinical Pharmacogenetics Implementation Consortium (CPIC).

29. The goal of using PGx to guide therapy with a prodrug like codeine or clopidogrel is to ensure:

• a) The patient can be converted to the active metabolite effectively.
• b) The patient avoids all side effects.
• c) The drug is metabolized as slowly as possible.
• d) The drug can be dosed once weekly.

Answer: a) The patient can be converted to the active metabolite effectively.

30. Which of the following is a potential limitation of pharmacogenomic testing?

• a) It cannot predict all drug responses, as non-genetic factors also play a role.
• b) The guidelines are difficult to understand.
• c) The tests are not scientifically valid.
• d) The results are not clinically useful.

Answer: a) It cannot predict all drug responses, as non-genetic factors also play a role.

31. A patient with depression has failed multiple SSRIs. A PGx test reveals they are a CYP2D6 ultrarapid metabolizer. This may explain:

• a) Why they experienced so many side effects.
• b) Why the medications may have been ineffective due to being cleared too quickly.
• c) Why they are allergic to SSRIs.
• d) Nothing; the result is irrelevant.

Answer: b) Why the medications may have been ineffective due to being cleared too quickly.

32. The “Personalized Medicine for Epilepsy” unit in the curriculum likely covers PGx testing for which AED?

• a) Levetiracetam
• b) Carbamazepine (HLA-B1502*)
• c) Gabapentin
• d) Ethosuximide

Answer: b) Carbamazepine (HLA-B1502)*

33. The VKORC1 gene codes for the target enzyme of which medication?

• a) Clopidogrel
• b) Tacrolimus
• c) Warfarin
• d) Simvastatin

Answer: c) Warfarin

34. Irinotecan, a chemotherapy agent, has a boxed warning regarding severe neutropenia and diarrhea in patients who are homozygous for which allele?

• a) TPMT *3A
• b) UGT1A1 *28
• c) CYP2D6 *4
• d) HLA-B *5701

*Answer: b) UGT1A1 28

35. As a pharmacist, if you receive a PGx result, your first step should be to:

• a) Call the patient and explain their entire genetic makeup.
• b) Change all of the patient’s medications immediately.
• c) Consult a reliable resource like CPIC to see if there are actionable guidelines for the patient’s current medications.
• d) File the report away and ignore it.

Answer: c) Consult a reliable resource like CPIC to see if there are actionable guidelines for the patient’s current medications.

36. A single nucleotide polymorphism (SNP) is a:

• a) Large deletion of a segment of a chromosome.
• b) Variation in a single DNA base pair.
• c) A type of protein.
• d) The observable trait of an organism.

Answer: b) A variation in a single DNA base pair.

37. The “diplotype” refers to:

• a) The combination of two haplotypes (one from each parent).
• b) The function of a single allele.
• c) A drug’s mechanism of action.
• d) A type of laboratory test.

Answer: a) The combination of two haplotypes (one from each parent).

38. The widespread adoption of “pre-emptive” PGx testing involves:

• a) Testing a patient only after they have an adverse drug reaction.
• b) Genotyping a panel of important pharmacogenes before any drugs are prescribed, so the data is available when needed.
• c) Testing only one gene at a time.
• d) Guessing a patient’s genotype based on their ethnicity.

Answer: b) Genotyping a panel of important pharmacogenes before any drugs are prescribed, so the data is available when needed.

39. A patient is a CYP2D6 poor metabolizer. They are at increased risk of toxicity from which of the following drugs, which is a CYP2D6 substrate?

• a) Codeine
• b) Clopidogrel
• c) Metoprolol
• d) Mercaptopurine

Answer: c) Metoprolol

40. The pharmacogenomics skills lab module is designed to give students hands-on experience with:

• a) Performing genetic sequencing.
• b) Using PGx databases and interpreting test reports to solve patient cases.
• c) Counseling patients on the ethics of genetic testing.
• d) The history of the human genome project.

Answer: b) Using PGx databases and interpreting test reports to solve patient cases.

41. Which of the following is NOT a goal of pharmacogenomics?

• a) To improve drug efficacy.
• b) To decrease adverse drug reactions.
• c) To use genetic information to stereotype patients.
• d) To guide drug selection and dosing.

Answer: c) To use genetic information to stereotype patients.

42. The gene SLCO1B1 codes for a transporter protein that helps move drugs like statins into the:

• a) Kidney for elimination.
• b) Brain.
• c) Liver for metabolism and clearance.
• d) Small intestine for absorption.

Answer: c) Liver for metabolism and clearance.

43. A patient with reduced SLCO1B1 function will have higher systemic concentrations of simvastatin, leading to an increased risk of:

• a) Stent thrombosis
• b) Myopathy
• c) Hypersensitivity reaction
• d) Therapeutic failure

Answer: b) Myopathy

44. A key part of the pharmacist’s role in personalized medicine is:

• a) Serving as a drug therapy expert on the interprofessional team.
• b) Educating both patients and other healthcare providers about the meaning and application of PGx results.
• c) Staying up-to-date on emerging PGx evidence and guidelines.
• d) All of the above.

Answer: d) All of the above.

45. What does the “TC” in the syllabus unit title “TC: Personalized Medicine – Transplantation” likely stand for?

• a) Therapeutic Class
• b) Transcending Concept
• c) Transplant Center
• d) Test Case

Answer: b) Transcending Concept

46. A patient’s genotype is static (it doesn’t change), but their phenotype can be dynamic. This is the principle behind:

• a) Bioequivalence
• b) Phenoconversion
• c) Therapeutic drug monitoring
• d) Half-life

Answer: b) Phenoconversion

47. According to CPIC, a Level A guideline means:

• a) The evidence is weak and testing is not recommended.
• b) Genetic testing is required by law.
• c) There is strong evidence and the guideline is structured to help clinicians implement it.
• d) The gene-drug association is still under investigation.

Answer: c) There is strong evidence and the guideline is structured to help clinicians implement it.

48. Why is it often more complex to implement PGx for psychiatric medications compared to a drug like warfarin?

• a) The response to psychiatric medications is often subjective and multifactorial.
• b) Multiple genes may be involved in the response to a single psychiatric drug.
• c) There are fewer clear biomarkers of efficacy.
• d) All of the above.

Answer: d) All of the above.

49. The integration of pharmacogenomics into electronic health records (EHRs) with clinical decision support (CDS) is a key step to:

• a) Make PGx data harder to use.
• b) Provide real-time, actionable guidance to prescribers at the point of care.
• c) Increase the risk of medication errors.
• d) Violate patient privacy.

Answer: b) Provide real-time, actionable guidance to prescribers at the point of care.

50. The “Principles of Drug Therapy Individualization” course provides the foundational knowledge for:

• a) Using a standard dose for every patient.
• b) Understanding and applying pharmacokinetic and pharmacogenomic principles to optimize patient care.
• c) A career in retail pharmacy management only.
• d) The history of pharmacy law.

Answer: b) Understanding and applying pharmacokinetic and pharmacogenomic principles to optimize patient care.