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

Journal Article (Journal Article)


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.

Full Text

Duke Authors

Cited Authors

  • Richardson, JS; Kemper, AR; Grosse, SD; Lam, WKK; Rose, AM; Ahmad, A; Gebremariam, A; Prosser, LA

Published Date

  • April 2021

Published In

Volume / Issue

  • 23 / 4

Start / End Page

  • 758 - 766

PubMed ID

  • 33281187

Pubmed Central ID

  • PMC8035228

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

International Standard Serial Number (ISSN)

  • 1098-3600

Digital Object Identifier (DOI)

  • 10.1038/s41436-020-01038-0


  • eng