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 break down galactose   Mortality Mortality   Brain damage Brain damage   Symptoms Symptoms   Liver, vomiting, anemia, bleeding, Liver, vomiting, anemia, bleeding,  infection infection

Why is it hard? Why is it hard?  Rare Rare   Clinical diagnosis is slow Clinical diagnosis is slow   Expensive to diagnose Expensive to diagnose 

Solutions Solutions  Blood spot testing Blood spot testing  Soy formula  Soy formula   Lactose removed from the diet Lactose removed from the diet 

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 

Medical outcome model Medical outcome model

With screening With screening

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 

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 

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 Possibly the gain is greater in  the UW program the UW program