Question 1

Gregor Mendel is known for which of the following?&#10;A) First explaining the difference between dominant and recessive genes in inheritance.&#10;B) Discovering the structure of DNA.&#10;C) Mapping roughly 25,000 genes in human DNA.&#10;D) Coining the term pharmacogenomics.

Accepted Answer

Gregor Mendel is known as the father of modern genetics for his pioneering work on pea plants which led to the discovery of the principles of inheritance, including the difference between dominant and recessive genes.

Question 2

Codeine and tramadol are prodrugs that require metabolism by which enzyme prior to providing analgesic relief?&#10;A) CYP2C19&#10;B) CYP3A4&#10;C) CYP2D6&#10;D) CYP1A1

Accepted Answer

Codeine and tramadol require metabolism by the enzyme CYP2D6 to be converted into their active forms.

Question 3

The FDA recommends genetic testing of which of the following for patients prior to initiating abacavir due to a risk of potentially fatal multiorgan hypersensitivity in 6-10% of users?&#10;A) CYP2C19&#10;B) HLA-B*5701&#10;C) CYP2D6&#10;D) UGT1A1

Accepted Answer

The FDA recommends genetic testing for HLA-B*5701 prior to initiating abacavir due to an increased risk of potentially fatal multiorgan hypersensitivity in 6-10% of users who carry the allele. Testing for CYP2C19, CYP2D6, and UGT1A1 is not relevant to the use of abacavir.

Question 4

The labeling for clopidogrel discusses pharmacogenomic testing for genetic variation in which of the following?&#10;A) CYP2C19&#10;B) HLA-B*5701&#10;C) CYP2D6&#10;D) UGT1A1

Accepted Answer

The labeling for clopidogrel discusses pharmacogenomic testing for genetic variation in CYP2C19, as individuals with certain genetic variations may have reduced effectiveness of the drug or a higher risk of adverse events. Testing can help guide dosing or alternative treatment options. The other options listed are not relevant for clopidogrel pharmacogenomic testing.

Question 5

The physician has ordered UGT1A1 gene testing for a patient with colon cancer. The nurse recognizes that which of the following drugs can result in severe diarrhea and neutropenia in persons with a specific UGT1A1 gene variant?

A) Warfarin
B) Carbamazepine
C) Codeine
D) Irinotecan

Accepted Answer

Irinotecan can result in severe diarrhea and neutropenia in persons with a specific UGT1A1 gene variant. This variant leads to reduced metabolism of the active form of irinotecan, causing toxic build-up in the body. Testing for this gene variant can help clinicians adjust the dosage of irinotecan accordingly to avoid serious adverse events.

Question 6

The Genetic Information Nondiscrimination Act (GINA) was enacted to:&#10;A) Prohibit insurance companies from requiring genetic testing to obtain health insurance.&#10;B) Allow for free pharmacogenomic testing for all US citizens.&#10;C) Provide research funding for inclusion of diverse populations in pharmacogenomic studies.&#10;D) Prohibit use of certain medications unless pharmacogenomic testing is completed.

Accepted Answer

The Genetic Information Nondiscrimination Act (GINA) was enacted to prohibit insurance companies from requiring genetic testing to obtain health insurance or using genetic information in making decisions about coverage or rates. This was done to protect individuals from discrimination based on their genetic makeup.

Question 7

Which of the following best describes pharmacogenetics?&#10;A) What the drug does to the body.&#10;B) How patient's genomes affect their response to medications.&#10;C) What the body does to the drug.&#10;D) How drugs alter patient's genes.

Accepted Answer

Pharmacogenetics is the study of how a patient's genetic makeup affects their response to medications. It focuses on how genetic variations impact drug efficacy and toxicity, allowing for personalized medicine tailored to an individual's unique genetic profile. Option A describes pharmacodynamics, Option C describes pharmacokinetics, and Option D is not a correct description of pharmacogenetics.

Question 8

A patient is diagnosed with Stevens-Johnson syndrome and the provider thinks this is related to an HLA B*1502 variant that resulted in drug toxicity. The nurse would know that which of the following medications is likely to blame:

A) Warfarin
B) Carbamazepine
C) Codeine
D) Irinotecan

Accepted Answer

HLA B*1502 variant is known to increase the risk of Stevens-Johnson syndrome caused by carbamazepine. Warfarin, codeine, and irinotecan are not typically associated with Stevens-Johnson syndrome related to HLA B*1502 variant.

Question 9

There are many legal and ethical issues related to pharmacogenomics. Which of the following are questions not related to privacy?&#10;A) Who has access to patient genetic information?&#10;B) All patients cannot afford pharmacogenetic testing.&#10;C) Who owns the genetic information?&#10;D) Concerns about patient &#34;labeling&#34; based on genetic code.

Accepted Answer

Option B is not related to privacy as it concerns the affordability of the testing rather than who has access to genetic information. Options A, C, and D are related to privacy concerns regarding genetic information.

Deck 4: Pharmacogenetics