Personalized medicine Flashcards

1
Q

What is personalized medicine?

A

the tailoring of medical treatment to the individual characteristics, needs, and preferences of the patient

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2
Q

What is single nucleotide polymorphisms?

A

SNPs are the most common form of genetic variability
- single base changes in the DNA
- Humans are 99.9% genetically identical (0.1% makes us different)

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3
Q

What is pharmacogenomics?

A

study of drug response based on genetic makeup and variability

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4
Q

What is pharmacodynamics?

A

What does the drug do to the body?
- biochemical pathway and physiological effects
- affect drug efficacy, toxicity, and choice of treatment

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5
Q

What is pharmacokinetics?

A

What does the body do to the drug?
- involve ADME
- affect dose, delivery, and dosage regimen

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6
Q

What sources may arise from variation in drug response?

A
  • genetic factors and environmental factors might affect the absorption, distribution, metabolism, and excretion of the drug
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7
Q

What are some pharmacological and toxicological consequences of drug metabolism?

A
  • inactivation: active drug to inactive product
  • activation: inactive pro-drug to active product
  • maintenance of activity (high or low enzyme activity)
  • increased chemical reactivity (protein, lipid, DNA binding)
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8
Q

What enzymes help act on drugs to eliminate them?

A

hepatic enzymes

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9
Q

What alters metabolite levels?

A

variability in drug-metabolizing enzymes can alter metabolite levels, which can assist physicians in prescribing the right treatment dosage

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10
Q

What are the different kinds of metabolizers?

A

poor metabolizers: large amount - small amount
- extensive (normal) metabolizer: medium amount - medium amount
- ultra-rapid metabolizer: small amount - large amount

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11
Q

What happened in the morphine poisoning?

A
  • full-term baby had intermittent periods of difficulty breathing and lethargy on day 7
  • regained weight on day 11, but grey skin and lower milk consumption. Found dead on day 13 (blood concentration of morphine was 70)
  • mother had been prescribed codeine and paracetamol for pain
  • mother was ultra-rapid metabolizer
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12
Q

What does Herceptin do in breast cancer?

A
  • 20% are HER2-positive
  • works by attaching itself to the HER2 receptors and blocking them from receiving growth signals
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13
Q

What are some benefits of personalized medicine?

A
  • better tailoring of medication to the patient instead of trial and error
  • shift the emphasis in medication from reaction to prevention
  • reduction in costs of trials
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14
Q

What are the different types of smoking cessation treatments?

A
  • varenicline (champix)
  • nicotine replacement therapy
  • bupropion (welbutrin)
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15
Q

What clinical trial was done on smokers?

A
  • determine which treatment (nicotine patch vs. varenicline) is most optimal based on nicotine metabolizer group (fast and slow)
  • efficacy was quantified using an odd ratio (proportion of people quitting smoking using either group)
  • patch had a larger quitting rate for fast metabolizers, slow metabolizers didn’t see much difference
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16
Q

What is the camhIMPACT test?

A
  • uses genetic testing to identify genetic variants that can influence response to psychiatric medications
  • tets 8 genes (from saliva)
  • provides recommendations (33 antidepressant/ antipsychotic meds)
17
Q

What were the results of the case study of people using genetic testing?

A
  • patients who entered on pharmacogenetically incompatible meds and were switched saw remission, response, and symptom improvements than patients who remained on pharmacogentically incompatible meds
18
Q

What are some challenges of personalized medicine?

A
  • logistical: how do we get genetic info into a patient’s electronic medical record (hard to keep safe, transfer)
  • economical: avoid wasting money on expensive drugs if they won’t work
  • language/ communication: preferred name for personalized medicine
19
Q

What has personalized medicine done for the future?

A
  • translated to drug development with a personalized medicine approach
  • the number of personalized meds has increased steadily
  • many drugs on the market have the potential to be personlized
  • use of biomarkers in clinical trials has increased
20
Q

How can personalized medicine help with vaccines?

A

match the vaccine or antiviral therapy to the right viral genome

21
Q

What is an example of personalized medicine helping with vaccines?

A
  • different Hep C viral genotypes - vary across the globe
  • HepC drugs are genotype-specific
  • only a couple drugs can be used for all Hep C virus genotypes
22
Q

What is Project GRADIENT?

A

local researchers to submit proposals exploring the link between genetic diversity and response to malaria and tuberculosis drugs in African patients