Chapter 79: Pharmacogenomics Flashcards

1
Q

For a recessive allele to produce a recessive phenotype, the individual must have ___ copies

A

2

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2
Q

Specific sequence of nucleotides that code for a single protein

A

gene

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3
Q

What is the most commonly occurring allele

A

Wild-type

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4
Q

Two identical alleles make up a _____ genotype

A

homozygous

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5
Q

Two different alleles make up a ____ genotype

A

heterozygous

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6
Q

The set of unique genes that determine a specific trait in an individual

A

Genotype

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7
Q

An observable trait of the genotype, such as hair color, or an inherited trait that is not outwardly visible, such as sickle cell disease

A

Phenotype

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8
Q

A change in a single nucleotide in a genetic sequence

A

Single nucleotide polymorphism (SNP)

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9
Q

The most common genetic alteration in DNA

A

SNPs

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10
Q

What is responsible for the majority of individual variability in response to a drug

A

SNP

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11
Q

Which type of drug metabolizer has fewer functional enzymes to metabolize a drug substrate

A

Poor metabolizers

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12
Q

Poor metabolizers can cause drug levels to ___

A

increase

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13
Q

Which type of drug metabolizer has more functional enzymes to metabolize a drug substrate

A

Ultra-rapid metabolizers

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14
Q

Ultra-rapid metabolizers can cause drug levels to ___

A

Decrease

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15
Q

Abacavir + abacavir containing combo drugs (Triumeq, Epzicom) requires testing for which HLA gene

A

HLA-B*5701

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16
Q

Allopurinol (Zyloprim, Aloprim) requires testing for which HLA gene

A

HLA-B*5801

17
Q

-Carbamazepine (Tegretol)
-Oxcarbazepine (Trileptal)
-Phenytoin (Dilantin)
-Fosphenytoin (Cerebyx)
require testing for which HLA gene

A

HLA-B*1502

18
Q

Patients who test positive for HLA-B*5701 with Abacavir + abacavir containing combo drugs (Triumeq, Epzicom) are at increased risk of

A

fatal hypersensitivity reaction

19
Q

Patients who test positive for HLA-B*5801 with allopurinol are at increased risk of

20
Q

Patients who test positive for HLA-B*1502 with AEDs are at increased risk of

A

SJS and TEN

21
Q

Which ethnic group must be tested prior to starting carbamazepine

22
Q

Which CYP enzyme should be tested prior to Plavix therapy

23
Q

Patients with which star allele(s) are poor metabolizers of Plavix and have increased CV events

24
Q

Which CYP enzyme should be tested prior to Codeine therapy

25
Which patients will be at increased risk of opioid overdose with codeine therapy
Ultra-rapid metabolizers (due to extensive conversion to morphine)
26
What should be tested prior to warfarin therapy
CYP2C9*2 and *3 | VCORC1
27
Patients on warfarin therapy and have CYP2C9*2 and *3 alleles or VCORC1 G>A variant are at increased risk of
bleeding
28
What should be done if a patient on warfarin has CYP2C9*2 and *3 alleles or VCORC1 G>A variant
Start with a lower dose
29
What should be tested prior to trastuzumab (Herceptin) therapy
HER2 gene expression
30
If a tumor is HER2 negative, what should be done with trastuzumab
It should not be used since the drug will not be effective. Trastuzumab is HER2 inhibitor, so if the tumor is negative for the gene, it won't be useful
31
What should be tested prior to Cetuximab (Erbitux) therapy
KRAS mutation
32
If a patient is positive for the KRAS mutation, what should be done with cetuximab
It should not be used. Only patients who are KRAS-mutation negative should receive the medication
33
What should be tested prior to azathioprine therapy
TPMT
34
Low or absent TPMT activity with azathioprine therapy increases the risk of
severe, life threatening myelosuppression
35
Patients using capecitabine (Xeloda) or fluorouracil and have DPD deficiency are at increased risk of
severe toxicity (diarrhea, neutropenia, neurotoxicity)
36
Key drugs where testing is required or strongly recommended
- Abacavir and any combination products containing abacavir - Azatioprine - Carbamazepine - Cetuximab and other EGFR inhibitors - Trastuzumab and other HER2 inhibitors
37
Avoid the drug when these pharmacogenomic tests are POSITIVE
- HLA-B testing (increased risk of hypersensitivity) | - KRAS mutation (predicts poor response)
38
Avoid the drug when this pharmacogenomic test is NEGATIVE
HER2 expression (indicates poor response)