Personalized Medicine

Question 1

prescribed drugs are effective in how many patients?

Answer 1

50%

Question 2

how much do ADRs cost the US?

Answer 2

30-150 billion per year

Question 3

what is the most common type of genetic variant?

Answer 3

single nucleotide polymorphisms (SNPs)

Question 4

how many nucleotides are polymorphic?

Answer 4

about 10 million SNPs - 1/500 nucleotides

Question 5

name 3 polymorphic CYPs

Answer 5

2C9, 2C19, 2D6

Question 6

name 2 polymorphic dehydrogenases

Answer 6

DPD, ALDH

Question 7

name 3 polymorphic acetyltransferases

Answer 7

NAT2, UDPGTs, UGT1A1

Question 8

name 1 polymorphic methyltransferase

Answer 8

TPMT

Question 9

name 2 common drugs affected by 2D6 polymorphism

Answer 9

codeine (to morphine)

tamoxifen (to 4-hydroxytamoxifen)

Question 10

warfarin is metabolized by which cyp?

Answer 10

2C9 (for inactivation)

Question 11

omeprazole is metabolized by which cyp?

Answer 11

2C19 (for inactivation)

Question 12

6-mercaptopurine is metabolized by what?

Answer 12

TPMT (metabolite is active)

Question 13

what genotype affects risk for carbazepine-induced stevens-johnson syndrome?

Answer 13

HLA-B*1502 genotype. only holds true in han chinese.

Question 14

what is trastuzumab?

Answer 14

monoclonal antibody directed against HER2 receptor found in some breast tumours

Question 15

what are 3 ways that polygenic inheritance can alter drug efficacy?

Answer 15

absorption (mutation, normal, duplication)
crossing BBB ability
number of receptors

Question 16

what’s the gene variant for imatinib or dasatinib?

Answer 16

BCR-ABL

Question 17

what’s the gene variant for tamoxifen?

Answer 17

2D6

Question 18

what’s the gene variant for tetrabenazine

Answer 18

2D6

Question 19

what’s the gene variant for warfarin?

Answer 19

2C9, VKORC1, 4F2, factor v leiden, +nongenetic factors

Question 20

what’s the gene variant for trastuzumab?

Answer 20

HER2

Question 21

what’s the gene variant for 6-mercaptopurine?

Answer 21

TPMT