L1 Flashcards

1
Q

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

A

genetic mutations

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2
Q

How many genetic loci are strongly associated with common diseases?

A

11,907

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3
Q

What is an actionable signature?

A

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

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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
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5
Q

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

A
  • VKOR1
  • CYP2C9
  • CYP4F2
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6
Q

What factors do genetic factors influence in pharmacokinetics?

what the body does to the drug

A
  • Absorption
  • Distribution
  • Metabolism
  • Excretion
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7
Q

What factors do genetic factors influence in pharmacodynamics?

what the drug dose to the body

A
  • receptor
  • target
  • signaling
  • enzymes
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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
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