Pharmacogenomics

Question 1

Patient lacks functional CYP2C19 enzyme activity. What should happen in regards to clopidogrel?

Answer 1

patient should not receive clopidogrel - It is a prodrug and CYP2C19 is needed to convert it

Question 2

What could occur if a patient with hyperactive CYP2C19 enzymes takes clopidogrel

Answer 2

increase risk of bleeding/side effects due to higher metabolism of clopidogrel to its active form

Question 3

define a chromosome

Answer 3

organized into 23 pairs as a supercoiled structure

Question 4

what is a pgx clinical pearl in regards to carbamazepine

Answer 4

Patient’s of Asian descent should be tested for HLA-B*1502 due to risk of severe skin reactions

Question 5

define polymorphism

Answer 5

inherited variation of DNA sequence

Question 6

Concerns in regards to rapid metabolizer of of CYP2D6 and opioids

Answer 6

codeine (prodrug) would be rapidly converted to morphine

Do not dispense codeine containing products like Tylenol #3

Question 7

What genes are we concerned with when talking about warfarin

Answer 7

VKORC1: metabolizes the drug (less = lower doses needed)
2C9: metabolizes drug to inactive metabolite (less = higher bleeding risk, lower doses needed)

Question 8

SNPs can cause amino acid changes in a gene. dose this means it will alter protein synthesis

Answer 8

it may or may not :)

Question 9

What drug would a breast cancer patient positive for the HER2 gene benefit from?

Answer 9

Herceptin

Question 10

What is the concern with HLA-B*5701?

Answer 10

it must be tested for in patients before abacavir products can be used - indicates a serious hypersensitivity reaction that could be fatal

Question 11

what gene relates to hypersensitivity of abacavir

Answer 11

HLA-B*5701

Question 12

What must a patient be before receiving Cetuximab?

Answer 12

KRAS-negative (wild-type)

Question 13

A patient positive for HLA-B*5801 is at risk for severe skin reactions with what drug?

Answer 13

allopurinol