IC4 PGx

Question 1

UK Biobank: Around ___ of patients have been prescribed a drug for which they are predicted to have an atypical response

Answer 1

~ 24%

Question 2

Genetic variations alters both PK (_____ activity) and PD (____ activity)

Answer 2

Enzyme; receptor

Question 3

Meaning of copy number variation

Answer 3

Many copies of the same gene

Question 4

Genotype

Answer 4

Combination of alleles at a specific location in DNA

Question 5

Which allele is considered the wild type

Answer 5

*1

Question 6

Presence of which gene increases risk of CBZ hypersensitivity

Answer 6

HLA-A *31:01, HLA-B *15:02

Question 7

Presence of which gene increases risk of allopurinol hypersensitivity

Answer 7

HLA-B *58:01

Question 8

Presence of which gene increases risk of abacavir hypersensitivity

Answer 8

HLA-B *57:01

Question 9

Activity score is available for which enzymes

Answer 9

CYP2C9, CYP2D6 and DPYD

Question 10

Activity score interpretation

Answer 10

Ranges from 0 (PM) to 3 (URM); 2 is normal metaboliser (1+1)

Question 11

Genotyping assay vs Sequencing assay: which is more cost-effective?

Answer 11

Genotyping assay

Question 12

Concept of phenoconversion

Answer 12

Phenotype may altered by environmental factors e.g. CYP inhibitor/ inducer, liver impairment, nutrition

Question 13

Presence of HLA-B *57:01 in ____ denotes liver failure

Answer 13

Flucloxacillin

Question 14

ABCG2 is only relevant for _____

Answer 14

Rosuvastatin

Question 15

Amitriptyline is metabolised via ____ into nortriptyline; amitriptyline and nortriptyline are deactivated by____

Answer 15

CYP2C19; CYP2D6

Question 16

Fluvoxamine - via___ into___ active metabolites

Answer 16

2D6; less

Question 17

Escitalopram - via ___ into____ active metabolites

Answer 17

2C19; less

Question 18

Drugs to avoid if HLA-B*15:01 +ve

Answer 18

phenytoin, phenobarbital

Question 19

HLA-A*31-01 +ve also recommended by CPIC to not initiate____ (optional)

Answer 19

carbamazepine;

Why optional:
- low allele frequency in SG population
- only a/w mild rash