Pharmacogenomics

Question 1

1842 First human drug metabolism experiment by Keller showed ________ acid converted in urine to hippuric acid

Answer 1

benzoic acid

Question 2

______________ : study of the relationship between variations in a single gene (or small collection of genes) and variability in drug disposition, response, and toxicity.

Answer 2

pharmacogenetics (PGx)

Question 3

_______________ : study of the relationship between variations in a large collection of genes (up to the whole genome) and variability in drug disposition, response, and toxicity.

Answer 3

pharmacogenomics

Question 4

The liver’s primary mechanism for metabolizing drugs is via a group of cytochrome____________ enzymes

Answer 4

P-450

Question 5

___________: mathematics of the time course of Absorption, Distribution, Metabolism, and Excretion of drugs

Answer 5

pharmacokinetics

Question 6

Drug metabolism is usually monogenic/multigenic?

Answer 6

monogenic

Question 7

Polymorphisms can affect protein function and can make ____________ bimodal or even trimodal

Answer 7

distribution

Question 8

Variable ______________ phenotypes may influence drug dosing, efficacy, and/or toxicity

Answer 8

pharmacokinetic

Question 9

Genetic variants in a metabolizing enzyme can alter enzyme _________, enzyme _________ or inactivate the enzyme

Answer 9

activity, affinity

Question 10

Genetic variants in a metabolizing enzyme can ___________ clearance, ___________ the AUC and ______________half-life

Answer 10

decrease clearance
increase AUC
increase t1/2

Question 11

Duplications/multiplications in a metabolizing enzyme are more rare but can ___________ clearance, ___________ the AUC and ______________half-life

Answer 11

increase clearance
decrease AUC
decrease t1/2

Question 12

The impact of drug metabolizing enzyme gene variants on the pharmacologic effect and toxicity profile of a drug depends, in part, on whether the drug is active in its parent form or is a ___________

Answer 12

prodrug

Question 13

Star nomenclature is typically numbered in order of _____________

Answer 13

discovery

Question 14

1 / (1A/B/C) are typically ____________ allele

Answer 14

reference/normal

Question 15

Some * alleles are defined by the presence of more than 1 variant in _____
Phasing is required

Answer 15

cis

Question 16

Interpretation of phenotype requires knowledge of ____________, not just genotype

Answer 16

diplotype

Question 17

Break down CYP-2-C-19-*17

Answer 17

Superfamily - CYP
Family - 2
Subfamily - C
Gene - 19
Allelic variant *17

Question 17

FDA box warning discusses testing of _______________ for Plavix

Answer 17

CYP2C19

Question 18

___________ collects, curates and disseminates knowledge about the impact of human genetic variation on drug responses.”

Answer 18

PharmGKB

Question 19

PharmGKB Clinical Annotation Levels of Evidence

Answer 19

1A/B high, 2A/B moderate, 3 low, 4 preliminary

Question 20

PharmGKB may state that genetic testing for a drug is ____________ or ____________ and that it is _____________ or __________________

Answer 20

required or recommended
actionable or informative

Question 21

CPIC (2009 PGKC and PGRN) stands for ______________ ________________ _______________ _______________

Answer 21

Clinical Pharmacogenetics Implementation Consortium

Question 22

CPIC currently has ______________ guidelines

Answer 22

33

Question 23

_______________ is linked to statin-induced myopathy

Answer 23

SLC01B1

Question 24

SLCO1B1 : Gene expressed at the hepatic ____________ membrane that reabsorbs a variety of chemicals from plasma into the liver

Answer 24

sinusoidal

Question 25

*____ allele of SLC01B1 rs4149056 / p.Val174Ala results in lower transport into liver and decreases clearance of simvastatin = lower dose means that patient has greater exposure to active drug

Answer 25

5
SLCO1B15

Question 26

Number needed to __________________ is the number of tests that must be performed to affect healthcare

Answer 26

genotype (like number needed to treat)

Question 27

SLC01B1*5 rs4149056 involves a ______ to ________ mutation at 174

Answer 27

Val174Ala