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Pharm > Pharmacogenomics > Flashcards

Pharmacogenomics Flashcards

1
Q

pharmacogenomics

A

the study of genetics with regard to drug response

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2
Q

pharmacogenomics: pharmacodynamics

A

is the drug target present? / are there alterations in the target?

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3
Q

pharmacogenomics: pharmacokinetics

A

focuses on specific enzymes that genes express, including CYP enzymes and phase II enzymes. drug transporters are also examined as well.

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4
Q

carbamazepine example

A

allele puts people at increased risk for TEN and Steven Johnson Syndrome.

patient can be tested for this allele. if patient tests positive, avoid carbamazepine.

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5
Q

clopidogrel example (pro drug)

A

PGx testing is done to ID poor metabolizers of CYP2C19

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6
Q

warfarin PGx testing

A

looking for over expressions of CYP2C9 and VKORC1. in these cases, higher doses of warfarin would need to be given in order to achieve desired clinical effect

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7
Q

single nucleotide polymorphism

A

an exchange of one nucleotide pair for another

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8
Q

SNPs can happen where

A

in coding or non coding regions

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9
Q

synonymous SNP reaction

A

change occurs in base pairs, but not in the amino acid it is coded for.

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10
Q

non synonymous SNP reaction

A

changes the amino acid it is coding for

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11
Q

A B C D gene reference

gene deletion example

A

A C D

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12
Q

A B C D gene reference

inverted gene sequence example

A

A upside down B C D

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13
Q

A B C D gene reference sequence

copy number variant / amplification example

A

A A A A A A B C D

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14
Q

type of SNPs we are focusing on

A

SNPs that change clinical outcome

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15
Q

nucleotide insertion

A

stop codon occurs early, alteration in gene’s coding sequence occurs and the frameshift moves to the right by 1 space

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16
Q

nucleotide deletion

A

a nucleotide is deleted and the entire frame shift moves to the left by 1 space.

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17
Q

ultra metabolism (UM)

A

you will metabolize a med much faster than an extensive metabolizer would

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18
Q

extensive metabolism (EM)

A

normal metabolizers of meds. what the meds are made for.

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19
Q

Intermediate metabolism (IM)

A

will metabolize at a lower rate than normal extensive metabolizer.

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20
Q

Poor metabolism (PM)

A

under expression of the CYP or phase II enzymes, unable to process meds as easily. profound decrease in metabolism.

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21
Q

intermediate and poor metabolizers both have

A

a degree of loss of function

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22
Q

which metabolizers types are we most concerned about in regards to drug dosing when it comes to a specific enzyme?

A

ultra metabolizers (UM) and poor metabolizers (PM)

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23
Q

in terms of PGx black box labels, what are we looking for?

A
  • if genetic testing is required
  • if genetic testing is recommended
  • actionable PGx
  • informative PGx
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24
Q

actionable PGx

A

will positive results necessitate an action?

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25
Q

informative PGx

A

no action required, just informative

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26
Q

resources for PGx testing, etc

A

PharmGKB

UpToDate

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27
Q

CYP2C9 PMs: warfarin (APC)

A

increased risk of bleeding

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28
Q

CYP2C9 PMs: phenytoin (APC)

A

increased risk of ataxia, unconsciousness, confusion

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29
Q

CYP2C9 PMs: anti diabetics (APC)

A

increased risk of potential hypoglycemia

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30
Q

CYP2C19 PMs: clopidogrel (pro drug)

A

decreased response

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31
Q

CYP2D6 UMs: codeine (prodrug)

A

increased risk of adverse effects

32
Q

codeine is metabolized by CYP2D6. if someone has codeine and is an UM

A

codeine intoxication bc codeine is a prodrug

33
Q

which two CYP enzymes metabolize codeine?

A

CYP 3A4 and CYP 2D6

34
Q

which enzyme metabolizes the active metabolite of codeine

A

CYP 2D6

35
Q

which enzyme metabolizes the inactive metabolites of codeine?

A

CYP3A4

36
Q

CYP2D6 UM for prodrug

A

inactive prodrug to active metabolite at quicker rate

37
Q

CYP2D6 PM for prodrug

A

buildup of inactive prodrug with less of the active metabolite. diminished effect.

38
Q

warfarin’s therapeutic index

A

narrow.

target INR 2.5-3.5

39
Q

if not getting appropriate warfarin response…

A

may need PGx test

40
Q

onset for clinical effect of warfarin

A

is delayed. be conservative with early dosing

41
Q

two isomers of warfarin

A

r-warfarin

s-warfarin

42
Q

which isomer of warfarin is more active?

A

s-warfarin

43
Q

how are warfarin’s isomers metabolized

A

by phase I CYP enzymes

44
Q

CYP enzymes for R-Warfarin (3)

A

CYP 1A1
CYP 1A2
CYP3A4

45
Q

CYP enzyme for s-warfarin

A

CYP 2C9

46
Q

enzyme we are most concerned with in warfarin and why

A

CYP 2C9 because this is the enzyme metabolizing S-warfarin, the active isomer of warfarin.

47
Q

clotting factors warfarin works on

A

10 9 7 2

X IX VII II

48
Q

warfarin works by

A

targeting VKORC1 and preventing oxidized vit K from being reduced, and thus reducing activated clotting factors in the blood stream.

49
Q

R and S Warfarin’s target

A

VKORC1

50
Q

if a patient is not responding the way you’d expect from a medication

A

PGx testing may be indicated

51
Q

PM of a CYP3A4 substrate APC will have…

A

increased clinical effect/buildup of the APC

52
Q

PM of a CYP3A4 substrate pro drug

A

almost no clinical effect/decreased clinical effect.

53
Q

NAVAGATE - N

A

Is the drug necessary?

54
Q

NAVAGATE - 3 A’s

A

alternatives (are there alternatives?)
appropriate turnaround time
acceptance (is there provider/patient acceptance if the test is pos/neg?)

55
Q

NAVAGATE - V

A

Is there a validated test?

56
Q

NAVAGATE - G

A

Good evidence - is there evidence regarding regarding what to do with the result?

57
Q

NAVAGATE - T

A

Test reimbursement - how will patient pay?

58
Q

NAVAGATE - E

A

Evaluate and document - how will the results be documented?

59
Q

PGx tests for what CYP enzyme re: codeine?

A

CYP2D6

60
Q

What causes most of the PM phenotype?

A

null alleles

61
Q

If you have diminished level of VKORC1

A

Less targets for warfarin to bind to - decrease dose

62
Q

purpose of required genetic testing at pharamacokinetic level

A

to anticipate polymorphism based kinetic changes that significantly reduce efficacy or cause serious adverse effects

63
Q

Purpose of required genetic testing at a pharmacodynamic level

A

there is a need to determine whether a therapeutic target exists
or
there is a need to anticipate polymorphisms unrelated to the target that cause serious adverse effects

64
Q

PGx testing at a pharmacokinetic level looks more at ____ while PGx testing at a pharmacodynamic level looks at

A

CYP enzymes ; drug targets

65
Q

Imatinib required PGx testing

A

Pharmacodynamic:

Works only in CML with Philadelphia chromosome-Positive.

66
Q

G6PD deficiency required PGx testing

A

Pharmacokinetic: life threatening hemolysis while taking rasburicase

67
Q

HLA-B

A

Human leukocyte antigen-B

68
Q

PGx related to HLAs

A

If patient has the HLA present for the drug in question, they’ll have the adverse skin reaction and you’d need to find an alternative.

69
Q

Why is pgx testing required for carbamazepine?

A

because if they have the HLA specific to the drug, they’ll have a life threatening skin reaction (SJS).

70
Q

G6PD deficiency can predispose patients to what when given certain meds?

A

hemolytic anemia

71
Q

What is the CYP enzyme which primary metabolizes clopidogrel?

A

CYP2C19

72
Q

Is clopidogrel an APC or a pro drug?

A

pro drug

73
Q

PM of 2PC19 when given clopidogrel, a pro drug

A

diminished effect, risk for clotting

74
Q

PMs of CYP2C19 who are prescribed clopidogrel should…

A

need a different agent or alternative dosing

75
Q

is warfarin an APC or pro drug

A

APC

76
Q

is codeine an apc or pro drug

A

pro drug

Pharm (31 decks)

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