pharmgenomics

Question 1

Pharmacogenomics, definition

Answer 1

how individual genome affects response of RX

Goal is match the drug with person genome

Question 2

Rates of adverse drug reactions (ADRs) low or high?

Answer 2

ADR- 6-7% in all hos
100K COD/yr
40% in target group will not respond

Question 3

Name a few causes of ADRs

Answer 3

Interactions
Changes d/t age
Dx- kidney, liver
Lifestyle- alcohol smoking
Errors
Genetics

Question 4

Arno Motulsky (1923-2018), not the name, the concept that he came up with

Answer 4

Drug rxn of this type may be caused by otherwis genetic trains or enzyme deficiencies

Question 5

Define a single nucleotide polymorphism (SNP

Answer 5

single base pair substitions
Variability in enzymes and proteins which lead to drug respone
Human genone 30K genes- over 11m SNPs

Question 6

Lactose free milk and lactose intolerance, why?

Answer 6

Lactase converts to glucose w/in jejunum
beta galactosidase deficiency (same as Lactase)
SNPs lead to intolerance

Question 7

ADRs and SNPs in Phase I enzymes, concept

Answer 7

Phase 1 enzymes most important-75% RX biotrans
L/t extra ensyme or too little
PM (poor enzyme metabolier)- produce less morphine
UM- convert too fast L/t ADR, sedation

Question 8

codeine

Answer 8

CYP 2D6, EM, PM, IM and UM

Question 9

clopidogrel

Answer 9

Treats stroker and MI

Active metabolits inhibit platet aggregation

Question 10

5-fluoroacil

Answer 10

inhibits DNA synthesis

dihydropyrimidine dehydrogenase- deficeny reduces anticancer meds

Question 11

irinotecan

Answer 11

UGT 1A1, topoisomerase I inhibitor

Question 12

succinylcholine

Answer 12

six steps in muscle firing prolonged apnea

Question 13

coumarin

Answer 13

bleeding disorder
dose reduction 90% for Theaptuic window
statin
inhibits activion of PT by Vk

Question 14

ezetimibe/simvastatin

Answer 14

lower cholesterol

Question 15

isosorbide/hydralazine

Answer 15

lower blood pressure (bp) AA improved

Question 16

fava beans

Answer 16

divicine and red cell hemolysis

Question 17

primaquine

Answer 17

hemolytic anemia (red cell hemolysis), glucose-6-phosphate dehydrogenase (G6PD) enzyme in red cells

Question 18

isoniazid

Answer 18

slow vs rapid acetylators and peripheral neuropathy

slow-AA,whites, fast Asian,

Question 19

omeprazole

Answer 19

failure to work

Question 20

azathioprine

Answer 20

TMP enzyme deficiency and death of the patient

inactivates cancer drugs

Question 21

Phenotypic vs Genotypic testing

Answer 21

Enzyme
vs.
Race

Question 22

Types of genetic polymorphisms tested for on a drop of blood

Answer 22

CY2D6- PM, UM, EM, IM
Inactive enxyme
Red. catatlytic activity
Inc. amount of enzyme
Altered Bio trans-mutant

Question 23

2FDA Product Labeling requirements for pharmacogenomic information

Answer 23

Adjust dose CYP ensymes
ADR / genotypes
Responder or Non responder