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November 19, 2003

Expanding Newborn Screening: How Good Is the Evidence?

Author Affiliations
Author Affiliations: Department of Pediatrics, Johns Hopkins University School of Medicine; Health Policy and Management, Department of Epidemiology, Bloomberg School of Public Health, Genetics and Public Policy Studies, Johns Hopkins University, Baltimore, Md.
JAMA. 2003;290(19):2606-2608. doi:10.1001/jama.290.19.2606

State health departments have been reluctant to adopt tandem mass spectrometry for newborn screening because of its expense (start-up cost of about $400 0001) and doubts about its validity and utility. However, pressure to adopt the screening technology has come from medicolegal proceedings brought by parents of infants with genetic disorders who were not screened and from the direct lobbying of hospitals and health departments by advocacy groups (http://www.savebabies.org). In addition, a private screening laboratory, Pediatrix Inc (formerly NeoGen Screening Inc), markets tandem mass spectrometry to hospitals and states. Despite the continuing lack of evidence regarding its safety and effectiveness, tandem mass spectrometry is now mandated in 24 states (http://genes-r-us.uthscsa.edu).