Pharmacogenomics

Question 1

What is pharmacogenomics?

Answer 1

Pharmacogenomics is the study of genetics concerned with the way in which an individual’s genetic attributes affect the likely response to therapeutic drugs.

Study of variations of DNA and RNA characteristics as related to drug response

Question 2

What can genetic biomarkers indicate?

Answer 2

Susceptibility of developing a disease
Predictions of treatment response
Diagnosis
Prognosis

Question 3

What are some indications/uses of pharmacogenomic studies?

Answer 3

Narrow therapeutic index
Differential responses (by race)
Adverse reactions (mechanisms of which are unclear)
High PK and PD variability

Question 4

What are some reasons treatments don’t work for all?

Answer 4

Age
Environmental exposure/factors
Interactions with other medicines
Sex
Genetics

Question 5

What CYP450 enzyme metabolises codeine and is responsible for the varied therapeutic responses?

What else does this enzyme metabolise?

Answer 5

CYP2D6

Metabolises:

Codeine
Beta blockers
Antidepressants
Antipsychotics

Question 6

What CYP450 metabolises Warfarin?
What else does this enzyme metabolise?

Answer 6

CYP2C9

Metabolises:

Warfarin
NSAIDs

Question 7

Which genetic mutation responds to Ivacaftor?

Which genetic mutation is a non-responder of Ivacaftor?

Answer 7

Responder: G551D

Non-responder: F508del

Question 8

What mutation(s) responds to Gefitinib in the treatment of lung adenocarcinoma?

Answer 8

EGFR-TKI sensitising mutations

Question 9

State the advantages of pharmacogenomic approaches:

Answer 9

Reduce adverse drug reactions
Decrease the change of side effects or dependency
Maximise the intended use of a medication or treatment

Speed the time to achieve therapeutic benefit of a drug

Decrease the cost of healthcare expenditures