SLIDE 1
Metabolic disorder Metabolic disorder
- Baby can
Baby can’ ’t break down galactose t break down galactose
- Mortality
Mortality
- Brain damage
Brain damage
- Symptoms
Symptoms
- Liver, vomiting, anemia, bleeding,
Galactosemia Galactosemia Galactosemia Galactosemia A Cost - - PowerPoint PPT Presentation
Galactosemia Galactosemia Galactosemia Galactosemia A Cost - - PowerPoint PPT Presentation
Galactosemia Galactosemia Galactosemia Galactosemia A Cost Benefit Analysis of Newborn A Cost Benefit Analysis of Newborn Screening Screening Metabolic disorder Metabolic disorder Baby can Baby can t break down galactose t
SLIDE 2
SLIDE 3
Why is it hard? Why is it hard?
- Rare
Rare
- Clinical diagnosis is slow
Clinical diagnosis is slow
- Expensive to diagnose
Expensive to diagnose
SLIDE 4
Solutions Solutions
- Blood spot testing
Blood spot testing
- Soy formula
Soy formula
- Lactose removed from the diet
Lactose removed from the diet
SLIDE 5
Downsides to Cure Downsides to Cure
- Ongoing treatment costs
Ongoing treatment costs
- Q188R - severity
Q188R - severity
- Micro deletions
Micro deletions
- Entire
Entire
- Brain damage continues
Brain damage continues
- Uterine failure
Uterine failure
SLIDE 6
Medical outcome model Medical outcome model
SLIDE 7
With screening With screening
SLIDE 8
Model IQ outcomes Model IQ outcomes
- Categories out of the range
Categories out of the range
- 28% - 5 point IQ loss
28% - 5 point IQ loss
- 69% - 25 point IQ loss
69% - 25 point IQ loss
- 3% - 40 point IQ loss
3% - 40 point IQ loss
SLIDE 9
Economics Economics
- Value of QALYs
Value of QALYs saved saved
- Clinical diagnosis
Clinical diagnosis
- Cost of disorder
Cost of disorder
- Cost of
Cost of compliance compliance
- Cost of testing
Cost of testing
SLIDE 10
10 year impact 10 year impact
- Net of $14.5 million
Net of $14.5 million
- Net without mortality -$4 million
Net without mortality -$4 million
- Cost per QALY $22 thousand
Cost per QALY $22 thousand
- Possibly the gain is greater in