Genetics, Health Economics and QofL Flashcards
Patient perspective of predict disease risk
Cost of test Value of test Effective treatment Privacy Negative QofL i.e. BRCA
Patient perspective of guide therapy
Cost of test Value of test Privacy POSITIVE QofL i.e. HER2
Provider perspective of predict disease risk
Value of test Who will pay Effective treatment Change pt management Advantages over SofC Expertise
Provider perspective of guide therapy
Value of test Who will pay Change pt management Advantages over SofC Drugs with complex PK/PD pathway
Pharmaceutical Industry perspective Positives
New targets
Drugs with better side effect profiles
More efficient drug development
Salvage drugs
Pharmaceutical industry perspective Negatives
Decreased market shares
Fever blockbuster drugs
Orphan population
Diagnostic Industry Positives and Concerns
Positive: increase market share
Concerns: Who will pay and how will it be regualted
Insurer Perspective on Predict Disease risk
Cost for counseling, testing family members and preventative interventions
Insurer perspective on guide therapy
Cost
Change pt management
Advantages over SofC
Avoidance of SE
Government cares about
Safety and efficacy
Reimbursement
Regulation
Society cares about
Max benefits
Minimize risk and costs
Characteristics favoring cost-effectiveness Severity
Severe outcomes including high mortality, significant impact on QofL or expensive medical cost
Characteristics favoring cost-effectiveness Drug Monitoring
Not practiced or difficult
Characteristics favoring cost-effectiveness Genotype/phenotype associated
Strong association between variant and outcomes
Characteristics favoring cost-effectiveness Assay
A rapid and relatively inexpensive assay is available
Characteristics favoring cost-effectiveness Polymorphism
Variant allele frequency is relatively high
Define Incremental cost effectiveness ratio (ICER)
Ratio of the change in cost to the change in effect of an intervention
Cost per Q adjusted life year
Define clinical validity
How consistently and accurately the test detects or predicts the outcome of interest
Define Clinical Utility
How likely the test is to significantly improve patient outcomes (will they live longer)
Homozygous for a mutation is usually what %? Heterozygous for a mutation?
0.33% vs 11%
Toxicity with 6MP
Dose limiting toxicity
Interrupting therapy can increase toxiity
TPMT polymorph is most important in heterozygous pts
Cost effectiveness with 6MP
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
Warfarin
Oral anticoagulant for treatment/prevention of TE in pts
Vitamin K pathway
Less likely to form a blood clot
Warfarin Target
VKDRC1
