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Genetics Final > Genetics, Health Economics and QofL > Flashcards

Genetics, Health Economics and QofL Flashcards

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1
Q

Patient perspective of predict disease risk

A 
Cost of test
Value of test
Effective treatment
Privacy
Negative QofL
i.e. BRCA
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2
Q

Patient perspective of guide therapy

A 
Cost of test
Value of test
Privacy
POSITIVE QofL
i.e. HER2
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3
Q

Provider perspective of predict disease risk

A 
Value of test
Who will pay
Effective treatment
Change pt management
Advantages over SofC
Expertise
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4
Q

Provider perspective of guide therapy

A 
Value of test
Who will pay
Change pt management
Advantages over SofC
Drugs with complex PK/PD pathway
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5
Q

Pharmaceutical Industry perspective Positives

A

New targets
Drugs with better side effect profiles
More efficient drug development
Salvage drugs

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6
Q

Pharmaceutical industry perspective Negatives

A

Decreased market shares
Fever blockbuster drugs
Orphan population

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7
Q

Diagnostic Industry Positives and Concerns

A

Positive: increase market share
Concerns: Who will pay and how will it be regualted

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8
Q

Insurer Perspective on Predict Disease risk

A

Cost for counseling, testing family members and preventative interventions

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9
Q

Insurer perspective on guide therapy

A

Cost
Change pt management
Advantages over SofC
Avoidance of SE

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10
Q

Government cares about

A

Safety and efficacy
Reimbursement
Regulation

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11
Q

Society cares about

A

Max benefits

Minimize risk and costs

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12
Q

Characteristics favoring cost-effectiveness Severity

A

Severe outcomes including high mortality, significant impact on QofL or expensive medical cost

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13
Q

Characteristics favoring cost-effectiveness Drug Monitoring

A

Not practiced or difficult

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14
Q

Characteristics favoring cost-effectiveness Genotype/phenotype associated

A

Strong association between variant and outcomes

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15
Q

Characteristics favoring cost-effectiveness Assay

A

A rapid and relatively inexpensive assay is available

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16
Q

Characteristics favoring cost-effectiveness Polymorphism

A

Variant allele frequency is relatively high

17
Q

Define Incremental cost effectiveness ratio (ICER)

A

Ratio of the change in cost to the change in effect of an intervention
Cost per Q adjusted life year

18
Q

Define clinical validity

A

How consistently and accurately the test detects or predicts the outcome of interest

19
Q

Define Clinical Utility

A

How likely the test is to significantly improve patient outcomes (will they live longer)

20
Q

Homozygous for a mutation is usually what %? Heterozygous for a mutation?

A

0.33% vs 11%

21
Q

Toxicity with 6MP

A

Dose limiting toxicity
Interrupting therapy can increase toxiity
TPMT polymorph is most important in heterozygous pts

22
Q

Cost effectiveness with 6MP

A

Yes if frequency of homo is 1% if frequency is 0.5% or less, yes only if the cost of the test is <100 dollars

23
Q

Warfarin

A

Oral anticoagulant for treatment/prevention of TE in pts
Vitamin K pathway
Less likely to form a blood clot

24
Q

Warfarin Target

A

VKDRC1

25
Q

Warfarin Metabilized by

A

2C9

26
Q

Too low warfarin

A

thromboembolism

27
Q

Too high warfarin

A

hemorrhage

28
Q

High dose of warfarin requires

A 
Decrease age
Increased weigh
Increase vitamin K intake
Smoking
Hypothyroidism
CYP2C9 inducers 
AA
29
Q

Lower dose of warfarin requires

A 
Increased age
Decrease weight and vitamin K intake
Cancer
Liver or heart disease
Hyperthyroidism
Factor Vii or X mutation
Amiodarone, statins, azoles. sulfa, abx
Female
30
Q

Impact of testing for 2c9 and VKORC1

A

Lack prospective randomized studies
Surrogate endpts used
Over anticoag doesn’t alway mean hemorrhage
Rate and consequence of under treating unknown

31
Q

Define Precision medicine

A

Prevention and treatment that take into account people’s individual variations in genes, envirnoment and lifestyle

32
Q

Precision medicine will do what?

A

Generate the scientific evidence needed to move it into clinical practice

Genetics Final (7 decks)

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