Pharmacogenetics

Question 1

What are some types of non-genetic factors?

Answer 1

disease state
age
diet
stress
previous drug exposure

Question 2

Pharmacogenetics

Answer 2

study of how genetic variation affects drug response

Question 3

What percentage of variability in pharmacokinetic half-life is associated with genetic makeup?

Answer 3

75-85%

Question 4

What does pharmacogenetics help with?

Answer 4

approaches to drug dosing that considers a patient’s genetic makeup to maximize a positive therapeutic outcome to drug therapy while minimizing adverse effects

Question 5

Advantages of pharmacogentics

Answer 5

genetic testing of patients means optimal doses of drugs to optimize therapeutic outcomes
personalized medicine helps with better treatment outcomes, greater drug efficacy, minimize drug toxicity and ADRs

Question 6

Polymorphism

Answer 6

mutation in a gene DNA sequence that occurs at a frequency of greater than 1% in a population

Question 7

Polymorphism in genes causes drug response to?

Answer 7

vary

Question 8

SNP

Answer 8

single nucleotide polymorphism
nucleotide substitution that results in a replacement of an amino acid codon, leading to a single amino acid substitution in a protein

Question 9

If an SNP occurs in a receptor there could be a change in ligand?

Answer 9

binding affinity/efficacy

Question 10

If a SNP is in an enzyme it can result in a change in?

Answer 10

Metabolic activity

Question 11

Indel polymorphism

Answer 11

insertion/deletion of bases in a gene that can result in changes in peptide length

Question 12

A gene allele with a polymorphism can be ?

Answer 12

dominant, recessive, or co-dominant

Question 13

Phenotypic expression of the genetic trait can vary depending on whether the patient inherited x or y genes?

Answer 13

homozygous or heterozygous

Question 14

Genetic polymorphisms can occur across ethnic groups or be?

Answer 14

race or ethnic specific

Question 15

Is atenolol more effective in Caucasian or African American patients?

Answer 15

Caucasians due to genetic polymorphisms in African Americans

Question 16

Variations in drug pharmacokinetics are based on?

Answer 16

genetic polymorphisms in metabolic enzyms

Question 17

What percentages of Rx drugs are metabolized by Cytochrome P450 enzymes?

Answer 17

70-90%

Question 18

Impacts of genetic polymorphisms of metabolic enzymes

Answer 18

decrease metabolism of drugs
decreased metabolism of prodrugs
change plasma protein binding
alter efficiency of transporter enzymes

Question 19

Genetic polymorphism decrease metabolic enzymes of drugs by

Answer 19

increasing [blood]
prolonged duration of action
prolonged half-life

Question 20

Genetic polymorphisms decrease metabolism of prodrugs by?

Answer 20

decreasing [active metabolite]
decreased therapeutic response

Question 21

Patient genotypes related to polymorphisms can result in

Answer 21

Ultra-rapid metabolizer- substantially incr metabolic activity
extensive metabolizer- normal
intermediate metabolizer- reduced metabolic activity
poor metabolizer- little/no functional metabolic activity

Question 22

Impact of genetic polymorphisms on pharmacodynamics

Answer 22

alter binding affinity of drugs for receptors
alter ability of drug to fully activate receptors
alter therapeutic response of drug
alter drug safety

Question 23

Warfarin varies with polymorphism x. What happens as a result?

Answer 23

VKORC1
reduces vitamin K dependent clotting factors
results in increased [warfarin] and hemorrhage

Question 24

Codeine is a prodrug metabolized by

Answer 24

CYP2D6

Question 25

If a patient has a duplication of a gene, they would become an ultra rapid metabolizer of codeine resulting in

Answer 25

symptoms of opiate overdose

Question 26

CYP2C9

Answer 26

enzyme responsible for 10% of drug metabolism

Question 27

CYP2D6

Answer 27

enzyme responsible for 20-30% of drug metabolism

Question 28

CYP3A4

Answer 28

enzyme responsible for 40-45% of drug metabolism