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Published on: December 20, 2017
Health and economic outcomes of newborn screening for infantile-onset Pompe disease
John S Richardson1,2, Alex R Kemper3, Scott D Grosse4
1Department of Health Management and Policy, University of Michigan, Ann Arbor, MI, USA.
Insights
Newborn screening for infantile-onset Pompe disease in the US identifies more cases, leading to significant health gains. While initial costs increase, this approach improves quality-adjusted life-years (QALYs) for affected infants.
Area of Science:
- Medical Genetics
- Public Health
- Health Economics
Background:
- Infantile-onset Pompe disease is a rare genetic disorder.
- Early diagnosis and treatment are crucial for improving outcomes.
- Current diagnostic methods rely on clinical identification, often leading to delayed treatment.
Purpose of the Study:
- To estimate the health and economic outcomes of newborn screening (NBS) for infantile-onset Pompe disease in the United States.
- To compare universal NBS with current clinical identification strategies.
Main Methods:
- A decision analytic microsimulation model was developed.
- Simulated a birth cohort of 4 million children in the US.
- Compared universal NBS and treatment versus clinical identification and treatment.
Main Results:
- Universal NBS for Pompe disease was estimated to cost an additional $26 million annually.
- Infants identified via NBS gained an average of 11.66 QALYs over their lifetime.
- Incremental cost-effectiveness ratios (ICERs) were $379,000/QALY (societal) and $408,000/QALY (health-care).
Conclusions:
- Newborn screening for Pompe disease leads to substantial health gains for individuals with the infantile-onset form.
- The implementation of NBS for Pompe disease incurs additional costs.
- Results are sensitive to the cost of enzyme replacement therapy.
Purpose:
To estimate health and economic outcomes associated with newborn screening (NBS) for infantile-onset Pompe disease in the United States.
Methods:
A decision analytic microsimulation model simulated health and economic outcomes of a birth cohort of 4 million children in the United States. Universal NBS and treatment was compared with clinical identification and treatment of infantile-onset Pompe disease. Main outcomes were projected cases identified, costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness ratios (ICERs) over the life course.
Results:
Universal NBS for Pompe disease and confirmatory testing was estimated to cost an additional $26 million annually. Additional medication costs associated with earlier treatment initiation were $181 million; however, $8 million in medical care costs for other services were averted due to delayed disease progression. Infants with screened and treated infantile-onset Pompe disease experienced an average lifetime increase of 11.66 QALYs compared with clinical detection. The ICER was $379,000/QALY from a societal perspective and $408,000/QALY from the health-care perspective. Results were sensitive to the cost of enzyme replacement therapy.
Conclusion:
Newborn screening for Pompe disease results in substantial health gains for individuals with infantile-onset Pompe disease, but with additional costs.
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