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PR4152: Multi-morbid patients > Pharmacogenomics > Flashcards

Pharmacogenomics Flashcards

1
Q

List 3 values of pharmacogenomics

A

1) Optimized dose
2) Optimized drug choice
3) Optimizing drug therapy -> right drug to the right patient

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2
Q

List 8 types of gene variants

A

1) Single Nucleotide polymorphism
2) Insertion
3) Deletion
4) Copy number variation
5) Tandem duplication
6) Interspersed duplication
7) Translocation
8) Inversion

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3
Q

What are same alleles also known as?

A

Homozygous

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4
Q

What are different alleles also known as?

A

Heterozygous

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5
Q

What is an allele?

A

Version of a gene

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6
Q

What is a haplotype?

A

A set of DNA variations inherited together on the same allele

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7
Q

What is a genotype?

A

A combination of different alleles at a specific location in DNA

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8
Q

What are phenotypes?

A

Observable traits
E.g. normal metabolizer, poor metabolizer, skin colour, hair colour

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9
Q

*1 alleles are usually known as?

A

Wild type/ absence of variant tested

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10
Q

How is the genotype for HLA usually presented?

A

Positive/negative- considered at risk even with 1 copy

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11
Q

HLA mostly predicts for?

A

Hypersensitivity risk

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12
Q

List 3 main enzymes where activity score is usually used to predict the phenotype for?

A

CYP2C9, CYP2D6, DPYD

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13
Q

Based on the activity score, what does the score 2.0 stand for?

A

Normal (Extensive) Metabolizer

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14
Q

Based on the activity score, what does the score 3.0 stand for?

A

Ultrarapid metabolizer

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15
Q

State whether the following is true or false: phenotype is predicted based on genotype

A

True

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16
Q

State whether the following is true or false: phenotype is affected by other clinical factors e.g. organ function, drug interaction

A

True

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17
Q

List 4 main resources for pharmacogenomics

A

1) CPIC- American Clinical guidelines
2) DPWG - dutch clinical guidelines
3) PharmGKB - one stop database that curates current PGx knowledge
4) Sequence2script

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18
Q

What does genotyping assay do? List down 1 disadvantage of genotyping assays

A

Tests for specific variants

Disadvantage: will miss variants that weren’t included in the test

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19
Q

What does sequencing assay do? List down 2 disadvantages of this assay

A

Identifies all variants within the regions tested

Disadvantages:
1) Expensive
2) Turn-around-time is typically longer

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20
Q

List down 2 caveats to the use of pharmacogenomics in practice

A

1) *1 represents the absence of variants covered by a genotyping panel

2) Behavioural, social and environmental factors may affect drug response and contribute phenoconversion

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21
Q

How does PGx optimise pharmacotherapy?

A) helps with choice of drug
B) helps with dosing
c) Both A & B

A

C) Both A & B

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22
Q

Which of the following is NOT considered a type of genetic variation?

A) Single nucleotide polymorphism
B) Copy number variation
C) Phenoconversion
D) Insertion

A

C) Phenoconversion

23
Q

Which of the following is a potential genotype reported for HLA-B* 15:02?

A) Rapid metabolizer
B) 2/3
C) A/A
D) Positive

A

Positive

24
Q

Which part should I focus on when interpreting a PGx report?

A) Genotype
B) Phenotype

A

B) Phenotype

25
Q

Which of the following is NOT a resource for translating genotype/phenotype for therapeutic recommendations?

A) CPIC
B) PharmVar
C) DPWG
D) PharmGKB

A

B) PharmVar

26
Q

Which of the following is a more accurate depiction of *1 in a genotyping assay?

A) wild type allele
B) Absence of variants covered by the assay

A

B) Absence of variants covered by the assay

27
Q

Which of the following could cause phenoconversion i.e. mismatch between genotype and predicted phenotype?

A) Organ failure
B) Diet
C) Drug drug interactions
D) All of the above

A

D) all of the above

28
Q

List the substrates of CYP2B6 (3)

A

1) Tramadol
2) Vortioxetine
3) Sertraline

29
Q

List the substrates for CYP2C9 (3)

A

1) Clopidogrel
2) Vortioxetine
3) Sertraline

30
Q

Which drug is an example of a weak inhibitor of CYP2B6

A

Clopidogrel

31
Q

Which drug is a prodrug that is converted to an active metabolite by CYP2C19?

A

Clopidogrel

32
Q

List the substrates for CYP2C19 (5)

A

1) Clopidogrel -> converted to active metabolite
2) Omeprazole
3) Escitalopram
4) Vortioxetine
5) Sertraline

33
Q

Give an example of a drug that is a moderate inhibitor of CYP2C19

A

Omeprazole

34
Q

Which drug is converted to an active metabolite with a much higher activity by CYP2D6?

A

Tramadol -> converted to active metabolite that has 200x more activity

35
Q

List the substrates of CYP2D6 (8)

A

1) Tramadol -> active metabolite
2) Escitalopram
3) Venlafaxine (major)
4) Amitriptyline
5) Fluvoxamine
6) Paroxetine (major)
7) Vortioxetine (major)
8) Sertraline

36
Q

List 3 examples of weak inhibitors of CYP2D6

A

1) Escitalopram
2) Venlafaxine
3) Sertraline

37
Q

What is a drug that is a strong inhibitor of CYP2D6?

A

Paroxetine

38
Q

List substrates for CYP3A4 (7)

A

1) Clopidogrel
2) Omeprazole
3) Tramadol
4) Escitalopram
5) Atorvastatin
6) Vortioxetine
7) Sertraline

39
Q

Omeprazole is a weak inhibitor of which enzymes?

A

CYP3A4, CYP3A5

40
Q

List the substrates for CYP3A5 (5)

A

1) Clopidogrel
2) Omeprazole
3) Tramadol
4) Escitalopram
5) Atorvastatin

41
Q

Which gene affects the drug response of rosuvastatin?

A

ABCG2 gene

42
Q

Which gene testing is mandated by HSA/MOH and for which drug?

A

HLA-B*15:02
For carbamazepine to avoid SJS/TENs

43
Q

Which gene is also associated with hypersensitivity in carbamazepine that is not mandated in SG?

A

HLA-B*31:01;

more prevalent in European and Japanese population

44
Q

What gene has been reported to be related to cause adverse liver reactions, and in which drug?

A

HLA-B*57:01
Flucloxacillin

FYI: associated with hypersensitivity in abacavir

45
Q

Which gene is associated with SCAR in allopurinol?

A

HLA-B*58:01

46
Q

Which gene is known to affect drug response to statins?

A

SLCO1B1;

Simvastatin (most affected), atorvastatin

47
Q

If a patient is found to be a CYP2D6 ultra-rapid metabolizer, list 3 drugs that will be affected, and the respective recommended changes to be made for these drugs.

A

1) Paroxetine: consider alternative therapy
2) Venlafaxine: increase dose
3) Vortioxetine: consider alternative therapy/ increase dose

48
Q

If a patient is found to be a CYP2D6 intermediate metabolizer, list 1 drugs that will be affected, and the respective recommended changes to be made for the drug.

A

1) Paroxetine: decrease dose/slower titration

49
Q

If a patient is found to be a CYP2D6 poor metabolizer, list 4 drugs that will be affected, and the respective recommended changes to be made for these drugs.

A

1) Paroxetine: decrease dose/slower titration
2) Fluvoxamine: consider alternative OR decrease dose/slower titration
3) Venlafaxine: consider alternative OR decrease dose/slower titration
4) Vortioxetine: consider alternative OR decrease dose/slower titration

50
Q

If a patient is found to be a CYP2C19 ultra-rapid metabolizer, list 1 drug that will be affected, and the respective recommended changes to be made for the drug

A

1) Escitalopram: consider alternative/ increase dose

51
Q

If a patient is found to be a CYP2C19 rapid metabolizer, list 1 drug that will be affected, and the respective recommended changes to be made for the drug

A

1) Escitalopram: consider alternative/ increase dose

52
Q

If a patient is found to be a CYP2C19 intermediate metabolizer, list 2 drugs that will be affected, and the respective recommended changes to be made for the drugs

A

1) Escitalopram: decrease dose/ slower titration
2) Sertraline: decrease dose/ slower titration

53
Q

If a patient is found to be a CYP2C19 poor metabolizer, list 2 drugs that will be affected, and the respective recommended changes to be made for the drugs

A

1) Escitalopram: consider alternative OR decrease dose/slower titration
2) Sertraline: consider alternative OR decrease dose/slower titration

54
Q

List 2 factors that supports the decision to conduct HLA-B*58:01 gene testing for allopurinol

A

1) Renal impairment
2) Old age

PR4152: Multi-morbid patients (5 decks)

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