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Pharmacogenomics: Genetic Variations in Drug Response

Description: Pharmacogenomics: Genetic Variations in Drug Response
Number of Questions: 15
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Tags: pharmacogenomics genetics drug response pharmacology
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What is the primary focus of pharmacogenomics?

  1. Studying the relationship between genetic variations and drug response

  2. Developing new drugs with fewer side effects

  3. Identifying genetic markers for drug efficacy

  4. Predicting individual responses to medications


Correct Option: A
Explanation:

Pharmacogenomics aims to understand how genetic variations influence an individual's response to drugs, including their efficacy, toxicity, and side effects.

Which genetic variation is commonly associated with altered drug metabolism?

  1. Single nucleotide polymorphisms (SNPs)

  2. Copy number variations (CNVs)

  3. Insertions and deletions (INDELS)

  4. Microsatellites


Correct Option: A
Explanation:

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation and can lead to changes in drug metabolism by altering the structure or function of drug-metabolizing enzymes or transporters.

What is the role of cytochrome P450 (CYP) enzymes in drug metabolism?

  1. They activate prodrugs into their active forms

  2. They metabolize drugs into inactive metabolites

  3. They transport drugs across cell membranes

  4. They bind to drugs and prevent their absorption


Correct Option: B
Explanation:

Cytochrome P450 (CYP) enzymes are a family of enzymes that play a crucial role in drug metabolism by converting drugs into inactive metabolites, which are then excreted from the body.

Which genetic variation can affect drug transporters?

  1. Missense mutations

  2. Nonsense mutations

  3. Frameshift mutations

  4. Promoter polymorphisms


Correct Option: D
Explanation:

Promoter polymorphisms can alter the expression levels of drug transporters, leading to changes in drug absorption, distribution, and excretion.

How can pharmacogenomics be used to guide drug therapy?

  1. By identifying patients who are more likely to respond to a particular drug

  2. By predicting the likelihood of adverse drug reactions

  3. By determining the optimal drug dosage for an individual patient

  4. All of the above


Correct Option: D
Explanation:

Pharmacogenomics can be used to guide drug therapy by identifying patients who are more likely to respond to a particular drug, predicting the likelihood of adverse drug reactions, and determining the optimal drug dosage for an individual patient.

Which genetic variation is associated with an increased risk of severe adverse reactions to abacavir?

  1. HLA-B*5701

  2. CYP2C19*2

  3. UGT1A1*6

  4. VKORC1*1173C>T


Correct Option: A
Explanation:

The HLA-B*5701 allele is strongly associated with an increased risk of severe adverse reactions to abacavir, including hypersensitivity reactions and Stevens-Johnson syndrome.

What is the role of genetic testing in pharmacogenomics?

  1. To identify genetic variations that influence drug response

  2. To predict individual responses to medications

  3. To develop personalized drug therapy plans

  4. All of the above


Correct Option: D
Explanation:

Genetic testing in pharmacogenomics is used to identify genetic variations that influence drug response, predict individual responses to medications, and develop personalized drug therapy plans.

Which genetic variation is associated with a decreased metabolism of warfarin?

  1. CYP2C9*2

  2. CYP2C9*3

  3. VKORC1*1173C>T

  4. CYP3A4*1B


Correct Option: C
Explanation:

The VKORC1*1173C>T polymorphism is associated with a decreased metabolism of warfarin, leading to an increased risk of bleeding complications.

What is the primary goal of pharmacogenomics research?

  1. To understand the genetic basis of drug response

  2. To develop new drugs with fewer side effects

  3. To identify genetic markers for drug efficacy

  4. To personalize drug therapy based on an individual's genetic profile


Correct Option: A
Explanation:

The primary goal of pharmacogenomics research is to understand the genetic basis of drug response, including how genetic variations influence drug metabolism, efficacy, and toxicity.

Which genetic variation is associated with an increased risk of neutropenia with clozapine?

  1. HLA-DRB1*04

  2. CYP2D6*4

  3. UGT1A1*6

  4. VKORC1*1173C>T


Correct Option: A
Explanation:

The HLA-DRB1*04 allele is associated with an increased risk of neutropenia, a serious adverse effect of clozapine.

What is the role of pharmacogenomics in drug development?

  1. To identify genetic markers for drug efficacy and safety

  2. To design drugs that are more effective and have fewer side effects

  3. To develop personalized drug therapy plans for individual patients

  4. All of the above


Correct Option: D
Explanation:

Pharmacogenomics plays a role in drug development by identifying genetic markers for drug efficacy and safety, designing drugs that are more effective and have fewer side effects, and developing personalized drug therapy plans for individual patients.

Which genetic variation is associated with an increased risk of myopathy with statins?

  1. SLCO1B1*5

  2. CYP2C9*2

  3. VKORC1*1173C>T

  4. UGT1A1*6


Correct Option: A
Explanation:

The SLCO1B1*5 allele is associated with an increased risk of myopathy, a serious adverse effect of statins.

What is the role of genetic counselors in pharmacogenomics?

  1. To provide information about pharmacogenomics testing

  2. To help patients understand their genetic test results

  3. To recommend personalized drug therapy plans based on genetic information

  4. All of the above


Correct Option: D
Explanation:

Genetic counselors play a role in pharmacogenomics by providing information about pharmacogenomics testing, helping patients understand their genetic test results, and recommending personalized drug therapy plans based on genetic information.

Which genetic variation is associated with an increased risk of gastrointestinal side effects with methotrexate?

  1. MTHFR C677T

  2. TPMT*3A

  3. UGT1A1*6

  4. VKORC1*1173C>T


Correct Option: B
Explanation:

The TPMT*3A allele is associated with an increased risk of gastrointestinal side effects, such as nausea, vomiting, and diarrhea, with methotrexate.

What is the role of regulatory agencies in pharmacogenomics?

  1. To review and approve pharmacogenomics tests

  2. To develop guidelines for the use of pharmacogenomics in clinical practice

  3. To educate healthcare professionals about pharmacogenomics

  4. All of the above


Correct Option: D
Explanation:

Regulatory agencies play a role in pharmacogenomics by reviewing and approving pharmacogenomics tests, developing guidelines for the use of pharmacogenomics in clinical practice, and educating healthcare professionals about pharmacogenomics.

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