L1

Question 1

What is responsible for around 50% of rare diseases identified?

Answer 1

genetic mutations

Question 2

How many genetic loci are strongly associated with common diseases?

Answer 2

11,907

Question 3

What is an actionable signature?

Answer 3

An actionable signature is information used to make a treatment decision.

Question 4

How can genetic marker distinguish patients?

Answer 4

• who are most likely to respond to a drug
• who are most likely to develop side effects
• who should not take the drug
• the best dose to be taken

Question 5

Which polymorphisms determine around 50% of dose variance in patients taking warfarin?

Answer 5

• VKOR1
• CYP2C9
• CYP4F2

Question 6

What factors do genetic factors influence in pharmacokinetics?

what the body does to the drug

Answer 6

• Absorption
• Distribution
• Metabolism
• Excretion

Question 7

What factors do genetic factors influence in pharmacodynamics?

what the drug dose to the body

Answer 7

• receptor
• target
• signaling
• enzymes

Question 8

What are the pharmacist’s role in pharmacogenomics?

Answer 8

• recommending PGx testing to aid in the process of drug and dosage selection
• designing a patient-specific drug and dosage regimen based on the the patient’s PGx profile while considering PK and PC properties
• educating patients and other healthcare professionals about PGx principals and appropriate indications for clinical PGx testing
• communicating PGx-specific drug therapy recommendations to the health care team, including documentation of interpretation of results in the patient’s health record