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PEDIATRICS Vol. 110 No. 4 October 2002, pp. 781-786

Cost-Benefit Analysis of Universal Tandem Mass Spectrometry for Newborn Screening

Edgar J. Schoen, MD^*, John C. Baker, MD^*, Christopher J. Colby, PhD and Trinh T. To, BS^*

^* Department of Genetics, Kaiser Permanente Medical Center, Oakland, California
Division of Research, Kaiser Permanente Medical Care Program, Oakland, California

--> Objective. To estimate potential costs and benefits of routinely using tandem mass spectrometry (MS/MS) to screen newborns for inborn errors of metabolism.

Method. Analysis of costs and benefits resulting from use of MS/MS in screening of 32 000 newborn infants using data from the Kaiser Permanente Medical Care Program of Northern California plus other published data.

Setting. A large health maintenance organization.

Results. In the base scenario, the cost per quality-adjusted life year saved by MS/MS screening was $5827; in the least favorable scenario, this cost was $11 419, and in the most favorable scenario, $736.

Conclusion. Costs per quality-adjusted life year saved by MS/MS screening for inborn errors of metabolism compare favorably with other mass screening programs, including those for breast and prostate cancer.

Key Words: costs and cost analysis • homocystinuria • maple syrup urine disease • metabolism • inborn errors • neonatal screening, • spectrum analysis • mass

Abbreviations: MS/MS, tandem mass spectrometry • IEM, inborn errors of metabolism • NBS, newborn screening • KP, Kaiser Permanente • PKU, phenylketonuria • MSUD, maple syrup urine disease • MMA, methylmalonic acidemia • PPA, propionic acidemia • MCAD, medium-chain acyl-CoA dehydrogenase deficiency • QALY, quality-adjusted years of life

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Received for publication Jan 25, 2002; Accepted Jun 19, 2002.

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