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Pediatrics. 2006 May;117(5 Pt 2):S253-60.

Tandem mass spectrometry program implementation challenges for state newborn screening programs: national survey of barriers and issues.

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Genetic Disease Branch, California Department of Health Services, Richmond, CA 94804, USA.



A national survey was undertaken to identify the barriers faced by states that have already implemented tandem mass spectrometry (MS/MS) screening and those that have not yet done so.


In April 2004, a 10-question survey was mailed to 106 individuals identified as key newborn screening contacts in each state. The survey requested information on issues that affected the state's ability to expand newborn screening to include MS/MS technology.


Representatives from 51 of 53 states/territories responded to the survey. Of the 51 responding states, 32 (63%) said that they are offering MS/MS screening currently. The top 2 issues that most affected the ability of states to add MS/MS screening were difficulty acquiring support within the organization (66%) and funding limitations (63%). The screening criteria that were most difficult to address were knowledge about the natural history of MS/MS-detectable disorders if untreated (37%), the short-term costs of screening and diagnosis (36%), and the long-term follow-up costs (34%). The top-ranked laboratory issues were the high costs of equipment and supplies (53%) and the development of appropriate population-specific cutoff values (41%). The top-ranked follow-up issues were the availability of accepted protocols and guidelines for MS/MS diagnostic evaluations (59%) and the availability of adequate educational materials describing the disorders (44%).


Several of the issues identified can be addressed through improved, more-comprehensive, patient surveillance systems that track patient health status and health services utilization, although other approaches need to be developed. Through a better understanding of these issues and challenges, the community of professionals who are concerned with the quality and scope of newborn screening may be better able to help states develop strategies to overcome these barriers.

[Indexed for MEDLINE]

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