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.

Richardson JS, Kemper AR, Grosse SD, Lam WKK, Rose AM, Ahmad A, Gebremariam A, Prosser LA. 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. PMID: 33281187; PMCID: PMC8035228.