New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry
| Autor: | Harvey L. Levy, Simone Albers, Margretta R. Seashore, Mary G. Ampola, James J. Filiano, Laurie A. Demmer, Vivian E. Shih, Thomas G. Brewster, C. L. Ingham, Susan E. Waisbren, Deborah Marsden, Mark S. Korson, Robert M. Greenstein, L. W. Burke, R. C. Schwartz |
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| Rok vydání: | 2001 |
| Předmět: |
Medical home
Newborn screening medicine.medical_specialty business.industry Infant Newborn Primary care physician Medical evaluation Primary care MCADD medicine.disease Mass Spectrometry Social support Neonatal Screening New england New England Family medicine Genetics Humans Medicine business Metabolism Inborn Errors Genetics (clinical) |
| Zdroj: | Journal of Inherited Metabolic Disease. 24:303-304 |
| ISSN: | 0141-8955 |
| Popis: | Newborn screening by tandem mass spectrometry (MS-MS), enabling presymptomatic identi¢cation of more than 20 inborn errors of metabolism, is used in several screening programmes throughout the world (Levy and Albers 2000).Most disorders identi¢ed by this technology are still incompletely understood. Consequently, there is a need to gather information about the bene¢ts of presymptomatic identi¢cation of these disorders and to develop a comprehensive system of management for this new group of identi¢ed newborns. In New England, it was felt that these objectives could best be realized through a consortium of those involved in screening and those who provide metabolic management. A consortium would also offer the unique opportunity to compare the outcome between infants detected presymptomatically and those diagnosed clinically, an opportunity presented because, in New England, only the state of Massachusetts has yet fully integrated MS-MS into newborn screening. The state of Maine also allows this technology for expanded screening, but only for medium-chain acyl-CoA dehydrogenase de¢ciency (MCADD). The main goal of the New England Consortium is the integration of newborn screening, metabolic evaluation, primary care and research into a comprehensive and e¤cient system for management of metabolic patients (Figure 1). The primary care physician, considered the medical home, occupies an active role in the general care of the child in this proposed system. Following newborn screening detection and con¢rmation of a metabolic disorder, the Consortium provides this physician with the most recent information about the disorder and recommendations for emergency care as well as general paediatric follow-up. The management of the child is then coordinated among the metabolic centre, the primary care physician and the family. The primary care physician is invited to join the Consortium, which also includes representatives from other metabolic centres, the New England Newborn Screening Program and parent groups. Exchange of information is facilitated by awebsite that contains information on the metabolic diseases identi¢able by MS-MS, on social support programmes and on advances in research ( ). Consortium members meet anually to exchange experiences and report on recent developments. J. Inherit. Metab. Dis. 24 (2001) 303^304 # SSIEM and Kluwer Academic Publishers. Printed in the Netherlands. |
| Databáze: | OpenAIRE |
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