MCQ Quiz-Genomic Medicine

MCQ Quiz: Genomic Medicine

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Genomic medicine is a transformative approach to healthcare that uses an individual’s genomic information to guide their clinical care, including diagnosis, treatment, and prevention strategies. For PharmD students, this field extends beyond pharmacogenomics to include gene therapies, targeted monoclonal antibodies, and complex ethical considerations. This quiz tests your understanding of these foundational principles and their application in modern pharmacy practice, ensuring you are prepared for a future of personalized care.

1. Which statement best describes the scope of genomic medicine?

  • It focuses solely on the study of how single genes affect drug response.
  • It uses an individual’s complete set of DNA (genome) to guide their overall clinical care.
  • It is the practice of developing generic medications.
  • It exclusively involves the study of infectious diseases.

Answer: It uses an individual’s complete set of DNA (genome) to guide their overall clinical care.

2. A patient’s observable traits, such as their metabolic capacity for a drug, are referred to as their:

  • Genotype
  • Phenotype
  • Haplotype
  • Allele

Answer: Phenotype

3. What is the primary goal of gene therapy?

  • To diagnose genetic disorders prenatally.
  • To treat or cure diseases by correcting or modifying a patient’s genetic material.
  • To create new pharmaceutical drugs from plant sources.
  • To study the inheritance patterns of diseases in a population.

Answer: To treat or cure diseases by correcting or modifying a patient’s genetic material.

4. The technology that allows for precise editing of DNA sequences, such as CRISPR-Cas9, is a form of:

  • Recombinant protein production
  • Genome editing
  • Stem cell therapy
  • Monoclonal antibody engineering

Answer: Genome editing

5. In oncology, a “basket trial” is a clinical trial design that:

  • Enrolls patients with many different types of cancer, but who all share the same specific genetic mutation.
  • Enrolls patients with one type of cancer and tests multiple different drugs on them.
  • Is used exclusively for testing non-drug therapies like surgery.
  • Compares a new drug to a placebo in a large, unselected patient population.

Answer: Enrolls patients with many different types of cancer, but who all share the same specific genetic mutation.

6. Monoclonal antibodies are a key tool in genomic medicine because they can be engineered to:

  • Correct defective genes directly within a cell.
  • Function as a delivery vector for gene therapy.
  • Target specific proteins or receptors that are overexpressed in certain diseases, like cancer.
  • Replace the need for all small-molecule drugs.

Answer: Target specific proteins or receptors that are overexpressed in certain diseases, like cancer.

7. A patient is found to be a CYP2C19 poor metabolizer. This genetic information is most critical when prescribing which of the following drugs?

  • Warfarin
  • Simvastatin
  • Codeine
  • Clopidogrel

Answer: Clopidogrel

8. The Genetic Information Nondiscrimination Act (GINA) prevents discrimination based on genetic information by:

  • Health insurers and employers.
  • Life insurance and long-term care insurance providers.
  • All government agencies, including the military.
  • All educational institutions.

Answer: Health insurers and employers.

9. The ethical principle of “Respect for Persons,” as described in the Belmont Report, directly supports the clinical practice of:

  • Ensuring research benefits outweigh the risks.
  • Obtaining informed consent from patients before any procedure or research participation.
  • Fairly selecting participants for clinical trials.
  • Publishing all research findings, whether positive or negative.

Answer: Obtaining informed consent from patients before any procedure or research participation.

10. “Precision medicine” is an approach that takes into account an individual’s variability in:

  • Genes
  • Environment
  • Lifestyle
  • All of the above

Answer: All of the above

11. Which organization provides peer-reviewed, evidence-based guidelines to help clinicians translate genetic test results into actionable prescribing decisions?

  • The Food and Drug Administration (FDA)
  • The Centers for Disease Control and Prevention (CDC)
  • The Clinical Pharmacogenetics Implementation Consortium (CPIC)
  • The American Medical Association (AMA)

Answer: The Clinical Pharmacogenetics Implementation Consortium (CPIC)

12. The production of human insulin using genetically engineered bacteria is an example of:

  • Gene therapy
  • Stem cell therapy
  • Recombinant protein technology
  • Genome editing

Answer: Recombinant protein technology

13. A major challenge in gene therapy is the development of safe and effective:

  • Placebos for use in control groups.
  • Vectors to deliver the genetic material to the target cells.
  • Computer software to analyze the results.
  • Marketing campaigns for the new therapies.

Answer: Vectors to deliver the genetic material to the target cells.

14. An “incidental finding” during genomic sequencing refers to:

  • A result that was anticipated by the clinician.
  • A technical error in the sequencing process.
  • An unsolicited finding about a patient’s risk for a different condition than the one being tested for.
  • The primary diagnosis confirmed by the genetic test.

Answer: An unsolicited finding about a patient’s risk for a different condition than the one being tested for.

15. A patient with variants in both the CYP2C9 and VKORC1 genes would require careful dose individualization for which medication?

  • Simvastatin
  • Codeine
  • Warfarin
  • Clopidogrel

Answer: Warfarin

16. The use of “OMICs” technologies, such as genomics, proteomics, and metabolomics, aims to:

  • Create a single cure for all diseases.
  • Develop a comprehensive biological profile of a patient to personalize their care.
  • Reduce the cost of all medications.
  • Replace the need for physical patient assessments.

Answer: Develop a comprehensive biological profile of a patient to personalize their care.

17. The role of an Institutional Review Board (IRB) is critical in genomic research to:

  • Ensure the research has commercial potential.
  • Protect the rights and welfare of human subjects.
  • Secure patent rights for the researchers.
  • Analyze the statistical data from the study.

Answer: Protect the rights and welfare of human subjects.

18. A “somatic” mutation, often targeted in cancer therapy, is a genetic alteration that:

  • Is inherited from a parent and is present in every cell of the body.
  • Occurs in non-germline cells and is not passed on to offspring.
  • Is caused by a viral infection.
  • Has no effect on cell function.

Answer: Occurs in non-germline cells and is not passed on to offspring.

19. A patient is found to be a CYP2D6 ultrarapid metabolizer. This phenotype is due to:

  • A deletion of the CYP2D6 gene.
  • A gene duplication event leading to extra copies of the CYP2D6 gene.
  • A drug-drug interaction inhibiting the enzyme.
  • A single nucleotide polymorphism that inactivates the enzyme.

Answer: A gene duplication event leading to extra copies of the CYP2D6 gene.

20. The ethical principle of “Justice” from the Belmont Report, when applied to genomic medicine, raises concerns about:

  • The accuracy of the genetic tests.
  • The privacy of the genetic data.
  • Equitable access to the benefits of genomic testing and therapies.
  • The side effects of the medications.

Answer: Equitable access to the benefits of genomic testing and therapies.

21. A patient with a SLCO1B1 gene variant is at higher risk for statin-associated myopathy because the variant impairs the drug’s:

  • Metabolism by CYP3A4.
  • Absorption from the gut.
  • Transport into the liver.
  • Binding to its target, HMG-CoA reductase.

Answer: Transport into the liver.

22. An “umbrella trial” in oncology is designed to:

  • Test one drug in many different cancer types.
  • Test multiple targeted drugs in a single cancer type, with patients assigned based on their specific tumor mutations.
  • Compare a new drug to a placebo in an unselected population.
  • Evaluate the effectiveness of surgical interventions.

Answer: Test multiple targeted drugs in a single cancer type, with patients assigned based on their specific tumor mutations.

23. What is the pharmacist’s role when a patient receives a direct-to-consumer (DTC) genetic report with health information?

  • To immediately change the patient’s medications based on the report.
  • To dismiss the report as entertainment and not medically relevant.
  • To help the patient interpret the information cautiously and recommend confirmation with a clinical-grade test before making medical decisions.
  • To report the patient to their insurance company.

Answer: To help the patient interpret the information cautiously and recommend confirmation with a clinical-grade test before making medical decisions.

24. Which of the following is a key limitation of gene therapy today?

  • It can only be used for non-genetic diseases.
  • There are potential risks associated with the viral vectors used for delivery, such as immunogenicity.
  • It is less expensive than conventional drug therapy.
  • It has never been shown to be effective.

Answer: There are potential risks associated with the viral vectors used for delivery, such as immunogenicity.

25. A patient being treated with the chemotherapy agent 5-fluorouracil should be tested for variants in which gene to avoid severe toxicity?

  • TPMT
  • DPYD
  • CYP2D6
  • SLCO1B1

Answer: DPYD

26. The concept of using a patient’s genetic information to guide drug selection and dosing falls under which domain of genomic medicine?

  • Gene editing
  • Pharmacogenomics
  • Stem cell therapy
  • Vaccinology

Answer: Pharmacogenomics

*27. In the nomenclature of star alleles (e.g., CYP2C19*1), the 1 allele generally represents the:

  • No-function allele.
  • Increased-function allele.
  • Wild-type or reference allele.
  • Most recently discovered allele.

Answer: Wild-type or reference allele.

28. An ethical concern with “pre-emptive” genomic testing (testing a healthy person for many variants at once) is:

  • The management of unsolicited or incidental findings.
  • The certainty that it will prevent all future diseases.
  • The low cost and simplicity of the process.
  • The lack of any actionable gene-drug pairs.

Answer: The management of unsolicited or incidental findings.

29. The main purpose of informed consent for genomic testing is to ensure that the patient:

  • Understands the test, its benefits, risks, limitations, and voluntarily agrees to proceed.
  • Agrees to pay for the test out-of-pocket.
  • Promises to adhere to any recommended medication changes.
  • Waives all rights to their genetic data.

Answer: Understands the test, its benefits, risks, limitations, and voluntarily agrees to proceed.

30. Monoclonal antibodies are often considered a form of “targeted therapy” because they are designed to:

  • Affect all cells in the body equally.
  • Bind to specific molecules (antigens) on the surface of target cells, like cancer cells.
  • Be easily manufactured in large quantities.
  • Have no side effects.

Answer: Bind to specific molecules (antigens) on the surface of target cells, like cancer cells.

31. The Nuremberg Code, a foundational document in bioethics, emphasized which of the following as an absolute requirement for ethical research?

  • The voluntary consent of the human subject.
  • Publication in a high-impact journal.
  • A minimum of 1,000 participants.
  • The guarantee of a successful outcome.

Answer: The voluntary consent of the human subject.

32. A patient who is a poor metabolizer of a prodrug that needs enzymatic activation will likely experience:

  • Increased efficacy and risk of toxicity.
  • Decreased efficacy or therapeutic failure.
  • A more rapid onset of action.
  • No change in drug effect.

Answer: Decreased efficacy or therapeutic failure.

33. The development of vaccines using mRNA technology is an application of:

  • Genomic medicine.
  • Traditional small-molecule chemistry.
  • Herbal medicine.
  • Homeopathy.

Answer: Genomic medicine.

34. A key role for the pharmacist in the era of genomic medicine is:

  • Performing the genetic sequencing in a lab.
  • Educating patients and other healthcare providers on the clinical implications of genomic test results.
  • Writing the prescriptions for all gene therapies.
  • Deciding which new genomic technologies should be developed.

Answer: Educating patients and other healthcare providers on the clinical implications of genomic test results.

35. A “phenocopy” occurs when:

  • A patient’s genotype changes due to environmental factors.
  • A drug-drug interaction mimics a genetic polymorphism, altering a patient’s metabolic phenotype.
  • Two different patients have the same genotype.
  • A genetic test provides a false result.

Answer: A drug-drug interaction mimics a genetic polymorphism, altering a patient’s metabolic phenotype.

36. The principle of “Beneficence” requires that genomic research:

  • Is designed to maximize benefits and minimize harm.
  • Is offered to every person in the population.
  • Is conducted without patient consent.
  • Guarantees a financial profit.

Answer: Is designed to maximize benefits and minimize harm.

37. Which of the following is NOT a typical application of genomic medicine?

  • Guiding chemotherapy selection based on a tumor’s genetic profile.
  • Adjusting a warfarin dose based on CYP2C9 and VKORC1 variants.
  • Choosing an antibiotic based solely on a patient’s symptoms without any diagnostic testing.
  • Using gene therapy to treat a monogenic disorder like cystic fibrosis.

Answer: Choosing an antibiotic based solely on a patient’s symptoms without any diagnostic testing.

38. The FDA’s Table of Pharmacogenomic Biomarkers in Drug Labeling is a resource for clinicians to:

  • Find the price of genetic tests.
  • Identify drugs that have genomic information included in their official FDA label.
  • Access patient-specific genetic data.
  • Read about the history of pharmacogenomics.

Answer: Identify drugs that have genomic information included in their official FDA label.

39. A major ethical consideration for storing genomic data in large biobanks is:

  • The physical space required for storage.
  • Ensuring robust data security and patient privacy protections.
  • The cost of freezer electricity.
  • The lack of data to store.

Answer: Ensuring robust data security and patient privacy protections.

40. A patient with normal function for both TPMT alleles is prescribed a standard dose of azathioprine. What is the expected outcome?

  • A high risk of severe toxicity.
  • The standard dose is likely to be safe and effective.
  • A complete lack of therapeutic effect.
  • The patient will require a much higher dose.

Answer: The standard dose is likely to be safe and effective.

41. The use of exosome-based therapies, which can carry molecular cargo like RNA or proteins between cells, is an emerging area of:

  • Biotechnology and potential therapeutic application.
  • Traditional pharmacokinetics.
  • Health economics.
  • Pharmacy law.

Answer: Biotechnology and potential therapeutic application.

42. Which statement accurately describes induced pluripotent stem cells (iPSCs)?

  • They are harvested directly from an embryo.
  • They are adult cells that have been reprogrammed back into an embryonic-like state.
  • They can only differentiate into one type of cell.
  • They have no therapeutic potential.

Answer: They are adult cells that have been reprogrammed back into an embryonic-like state.

43. A pharmacist’s duty to be a “lifelong learner” is especially important in genomic medicine because:

  • The field is rapidly evolving with new discoveries and clinical guidelines.
  • There are no good resources for learning about genomics.
  • The information learned in pharmacy school will never change.
  • It is a requirement for maintaining a pharmacy license.

Answer: The field is rapidly evolving with new discoveries and clinical guidelines.

44. The primary challenge that GINA does NOT protect against is discrimination by:

  • Health insurance companies.
  • Most employers.
  • Long-term care or life insurance companies.
  • Group health plans.

Answer: Long-term care or life insurance companies.

45. A patient’s right to “autonomy” in genomic medicine means they have the right to:

  • Demand any treatment, regardless of evidence.
  • Make informed, voluntary decisions about their own medical care, including whether to have genetic testing.
  • Access their physician’s personal health records.
  • Change their own genetic code.

Answer: Make informed, voluntary decisions about their own medical care, including whether to have genetic testing.

46. A “humanized” monoclonal antibody is one that has been engineered to:

  • Be derived entirely from a mouse.
  • Contain mostly human protein sequences to reduce the chance of an immune reaction in the patient.
  • Target a human-specific virus.
  • Be administered only to humans.

Answer: Contain mostly human protein sequences to reduce the chance of an immune reaction in the patient.

47. If a pharmacist encounters a drug-gene interaction they are unfamiliar with, the best first step is to:

  • Guess the appropriate action.
  • Tell the patient the test is wrong.
  • Consult a reliable PGx resource like CPIC or PharmGKB.
  • Ignore the result.

Answer: Consult a reliable PGx resource like CPIC or PharmGKB.

48. Why is pharmacogenomics considered a reactive approach to medicine?

  • It predicts future disease.
  • It is used to guide therapy after a drug has already been selected for a patient.
  • It reacts to environmental factors only.
  • It is not a reactive approach.

Answer: It is used to guide therapy after a drug has already been selected for a patient.

49. The ethical framework for modern human subjects research was largely built upon:

  • The successes of early 20th-century research.
  • Public demand for faster drug development.
  • The moral failures and atrocities of past unethical experiments.
  • The business needs of pharmaceutical companies.

Answer: The moral failures and atrocities of past unethical experiments.

50. The integration of genomic medicine into routine healthcare ultimately depends on:

  • Demonstrating improved patient outcomes and clinical utility.
  • Making the technology more complex and difficult to use.
  • Keeping genetic information secret from patients.
  • Limiting access to only a few academic medical centers.

Answer: Demonstrating improved patient outcomes and clinical utility.

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