L1 Flashcards
1
Q
What is responsible for around 50% of rare diseases identified?
A
genetic mutations
2
Q
How many genetic loci are strongly associated with common diseases?
A
11,907
3
Q
What is an actionable signature?
A
An actionable signature is information used to make a treatment decision.
4
Q
How can genetic marker distinguish patients?
A
- 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
5
Q
Which polymorphisms determine around 50% of dose variance in patients taking warfarin?
A
- VKOR1
- CYP2C9
- CYP4F2
6
Q
What factors do genetic factors influence in pharmacokinetics?
what the body does to the drug
A
- Absorption
- Distribution
- Metabolism
- Excretion
7
Q
What factors do genetic factors influence in pharmacodynamics?
what the drug dose to the body
A
- receptor
- target
- signaling
- enzymes
8
Q
What are the pharmacist’s role in pharmacogenomics?
A
- 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