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Tandem mass spectrometry and newborn screening: pilot data and review
James J Filiano1, Sherry Gray Bellimer, Pamela L Kunz
1Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire 03756, USA.
Insights
Expanded newborn screening using tandem mass spectrometry can identify inherited disorders early, reducing patient morbidity and saving critical care costs. This financial analysis supports broader implementation for public health benefits.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Legislatures are considering expanding newborn screening for inherited disorders using tandem mass spectrometry.
- A lack of financial data comparing early vs. late diagnosis hinders this debate.
- Propionic acidemia serves as a model for evaluating the economic impact of expanded screening.
Purpose of the Study:
- To provide pilot financial data comparing late diagnosis with presumptive diagnosis and early management for propionic acidemia.
- To estimate potential yearly savings in critical care charges associated with expanded newborn screening.
Main Methods:
- Analysis of financial data from consecutive propionic acidemia patients diagnosed between 1995-1998 in New Hampshire.
- Extrapolation of data based on the incidence of treatable inborn errors of metabolism.
Main Results:
- Pilot data comparing costs of late diagnosis versus early management were generated.
- Projected yearly savings in critical care charges were estimated for instituting expanded newborn screening.
Conclusions:
- Expanded newborn screening is projected to diminish patient morbidity.
- Significant savings in yearly chronic and critical care charges are anticipated with expanded screening programs.
Abstract:
United States legislatures are debating whether to use tandem mass spectrometry to expand the roster of inherited disorders tested in newborn screening programs. The debate is hampered because published financial data comparing charges associated with late vs early diagnosis are not readily available. We provide pilot financial data comparing late diagnosis vs presumptive diagnosis and early management taken from consecutive patients with propionic acidemia diagnosed from 1995-1998 in New Hampshire. We extrapolated from these data and the incidence of treatable inborn errors of metabolism to estimate the projected yearly savings of critical care charges if expanded newborn screening were instituted. We conclude that institution of expanded screening will bring diminished morbidity and large savings in yearly chronic care and critical care charges.