8. Pharmacogenomics

Question 1

pharmacogenomics

Answer 1

study of how genes affect a persons response to drugs, most helpful for outlier patients

pharmacology + genomics

Question 2

goal of pharmacogenomics

Answer 2

using genetic information to inform drug selection and dosing we hope to maximize:

maximize likelyhood of drug efficacy
minimize the likelihood of adverse drug reactions

Question 3

homozygous wild type

Answer 3

1/1

is not a guarantee of normal function

Question 4

heterozygous

Answer 4

1/2

SNP - single nucleotide polymorphism

Question 5

homozygous variant

Answer 5

2/2

2 nucleotide variants

genetic variant can code for normal function

Question 6

genotype nomenclature

CYP2D6 1/4(2N)

Answer 6

1/4 (2N)
normal type/”no function”

2 copies of the gene (copy number)

Question 7

nomenclature of metabolizers with increasing enzyme activity

Answer 7

ultrarapid metabolizer
rapid
normal (extensive)
intermediate
poor

Question 8

codeine

Answer 8

is a prodrug that is metabolized to morphine by CYP2D6

Question 9

Codeine variants w nomenclature

Answer 9

Ultra-rapid metabolizer 3 copies CYP2D6 - ultra rapidly metabolize codeine to morphine so we have more morphine in the body

normal 2 copies of CYP2D6

Intermediate 1 copy- make some amount of morphine - below normal ranges so may or may not provide pain relief

poor - will not get pain relief - codeine is not metabolized to codeine