L8 - Pharmacogenomics Flashcards Preview

Seminars in Translational Medicine > L8 - Pharmacogenomics > Flashcards

Flashcards in L8 - Pharmacogenomics Deck (17):
1

What is pharmacogenetics?

the study of interindividual variations in DNA sequence related to drug response

2

What is Pharmacogenomics?

The study of the variability of the expression of individual genes relevant to disease susceptibility as well as drug response at cellular, tissue, individual or population level.

Broadly applicable to drug design, discovery and clinical development

3

What is the fate of a CNS drug and the accompanying genetic variations?

Absorption - different drug transporter genes

Blood, immune response - HLA variations

Effects in the brain - genes of targets e.g the ion channels


Metabolism - e.g Cytochrome P450

Excretion - Drug transporters

4

What percentage of FDA approved medications are known to be affected pharmacogenes?

7%

(18% of total prescriptions)

5

What are the factors to consider in implemetation of diagnostic pharmacogenic testing?

Analytica validity - genotyping accuracy of the test

Clinical validity - Accuracy of test result in identifying clinical status

Clinical utility - risks and benefits of testing

cost-effectiveness - value for money of test

6

What is the genomics translation highway?

1. Population health observations

2. Bench

3. Bedside

4. Evidence-based recommendations

5. Healthcare systems and prevention programs

and repeat...

7

what is the percentage of AED-rash side effects with seizure medication, Carbamazepine?

3.9%

8

What association predicts AED-rash side effects with seizure medication, Carbamazepine?

HLA-B*1502 - mainly in asia

HLA-A*31:01

9

What is the protocol now to protect patients from rash with Carbamazepine?

Patients with ancestry from areas in which HLA-B*1502 allele is present should be screened for the HLA-B*1502 allele before starting treatment with carbamazepine. If they test positive it shouldn't be started (unless the benefit outweights skin reaction)

10

What is the testing recommendation for the HLA-A*31:01 allele to prevent rashes?

Moderately strong recommendation in all patients before the initiation of carbamazepine

11

Is Hla-N*15:02 testing cost-effective?

modelling in singapore and thailand suggest it is, yes.

12

True or false

HLA-B*`1502 screening has lead to a sharp decline in Carbamazepine prescriptions

true

13

What is the adherence to HLA-B1502 testing practice?

25%

14

What is the real world cost -effectiveness of HLA-B1502 testing?

current practice not cost-effective - better physician education, point-of-care testing needed

15

What are the deficiencies of the current testing workflow?

(see slide)

expensive
delays treatment
prolongs hospital stay
extra clinic visit
clinicians may avoid testing by prescribing more expensive drug

16

What is needed to address the deficiencies of the current testing workflow?

Doctor performs the test using point-of-care device (

17

Point-of-care molecular diagnosis are...

the future - self contained system integration

take blood sample and quickly get a result