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

Genet Med. 2021 Apr;23(4):758-766. doi: 10.1038/s41436-020-01038-0. Epub 2020 Dec 7.


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.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child
  • Cost-Benefit Analysis
  • Enzyme Replacement Therapy
  • Glycogen Storage Disease Type II* / diagnosis
  • Glycogen Storage Disease Type II* / epidemiology
  • Glycogen Storage Disease Type II* / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Neonatal Screening
  • Quality-Adjusted Life Years
  • United States / epidemiology