Genetics

Question 1

what is avg efficacy of most drugs

Answer 1

50%

Question 2

what is genetically enabled medicine (2)

Answer 2

1. genetic tech to develop better drugs

2. predictive tests to get right dose of right drug to right person

Question 3

who do we want to remove from drug therapy

Answer 3

non-responders and toxic responders

Question 4

what is genetic variation

Answer 4

change in nucleotide sequences that leads to a change in phenotype

Question 5

what is a rare vs. polymorphic variant

Answer 5

rare < 1% of pop

polymorphic < 1% (common)

Question 6

how are SNPs useful (3)

Answer 6

1. mapping markers
2. correlate with disease predispostion
3. correlate with drug toxicity and response

Question 7

what are 3 potential types of metabolizers

Answer 7

1. poor - little effect
2. extensinve
3. ultra rapid - show toxicity

Question 8

does CYP2D6 do to codeine

Answer 8

makes morphine

Question 9

does CYP2D6 do to tamoxifen

Answer 9

makes hydroxytamoxifen - more potent SERM

Question 10

what happens to poor metabolizers of tamoxifen with breast cancer

Answer 10

death more common

Question 11

what happens to warfarin with CYP2C9

Answer 11

if don’t have it get too much warfarin and bleeding risk

Question 12

why is there only a 50% cure rate from ulcers due to omeprazole

Answer 12

low metbolizers do well , but get mix from super metabolizers

Question 13

why is it important to know if people are good metabolizers or not

Answer 13

can change the dosing rate based on their ability to metabolize

Question 14

what are potential pharmacodynamic changes that can be screened for

Answer 14

changes in receptor activity - eg. B2 receptors in the lung

Question 15

what is herceptin

Answer 15

a $100000 monoclonal antibody directed against HER2 - an growth factor receptor on breast tissue - cancer

Question 16

when is herceptin effective

Answer 16

only for those with HER2 overactivity (25%)

Question 17

what is the challenge to polygentic disorders

Answer 17

can have many different factors affecting

Question 18

6 areas of value for genetics

Answer 18

1. drug target discovery
2. drug discovery
3. efficacy of drugs in development
4. safety of drugs in dev.
5. efficacy of approved drugs
6. safety of approved drugs

Question 19

how to find genes in population

Answer 19

GWAS - take 2 groups - 1 with disease and one without and look for SNPs differences in groups

Question 20

how can genetics help clincial trials

Answer 20

stratification of the populations

Question 21

3 ways stratification can help

Answer 21

1. less overlap between groups
2. higher statisitical power
3. smaller sample size reqiured

Question 22

when does testing make clinical sense (6)

Answer 22

1. high predictive value
2. interventions are possible
3. high cost
4. serious disease
5. no alternative meds
6. narrow therapeutic index of drug