Health and economic outcomes of newborn screening for infantile-onset Pompe disease



To estimate health and economic outcomes associated with newborn screening (NBS) for infantile-onset Pompe disease in the United States.


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.


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.


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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Fig. 1: Model framework.
Fig. 2: One-way sensitivity analysis.

Data availability

The model is available upon request by contacting the corresponding author.

Code availability

The model is available upon request by contacting the corresponding author.


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The authors acknowledge the expert panelists for reviewing assumptions and parameter inputs for the simulation model: Priya Kishnani, Deborah Marsden, C. Ronald Scott, Olaf Bodamer, Barry Byrne, Sharon Kardia. We also acknowledge the following individuals for providing information on Pompe disease newborn screening: Janice Bach, (Michigan), Patrick Hopkins (Missouri), Tess Rhodes (Illinois), Sarah Bradley (New York), Suzanne Karabin (New Jersey), and Deeksha Bali (Duke University). We also acknowledge Brittany D’Cruz and Nicole Emblad for their research assistance and Rachel Fisher for her expertise. This work was funded by the Agency for Healthcare Research and Quality (AHRQ), grant number R01 HS020644. The funding agreement ensured the authors’ independence in designing the study, interpreting the data, writing, and publishing the report. The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention. The views expressed herein are solely those of the authors and do not necessarily reflect the views of the Secretary of the United States Department of Health and Human Services or of the individual members of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.

Author information




Conceptualization: J.S.R., A.R.K., S.D.G., and L.A.P. Data curation: A.G. Formal analysis: J.S.R, A.G., and L.A.P. Funding acquisition: L.A.P. Investigation: J.S.R., A.R.K., S.D.G., W.K.K.L., A.M.R., A.A., A.G., and L.A.P. Methodology: J.S.R., A.G., and L.A.P. Project administration: A.M.R. and L.A.P. Supervision: L.A.P. Visualization: A.M.R. and A.G. Writing-original draft: J.S.R., S.D.G., and L.A.P. Writing- review & editing: J.S.R., A.R.K., S.D.G., W.K.K.L, A.M.R., A.A., A.G., and L.A.P.

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Correspondence to Lisa A. Prosser PhD.

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Richardson, J.S., Kemper, A.R., Grosse, S.D. et al. Health and economic outcomes of newborn screening for infantile-onset Pompe disease. Genet Med (2020).

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