Assessing the evidence for clinical utility in newborn screening

Scott D. Grosse

in Human Genome Epidemiology, 2nd Edition

Published in print December 2009 | ISBN: 9780195398441
Published online May 2010 | e-ISBN: 9780199776023 | DOI:
 							Assessing the evidence for clinical utility in newborn screening

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This chapter outlines key methodological issues in collecting and analyzing data on outcomes in individuals with genetic disorders that are candidates for inclusion in screening panels, and reviews the relevant literature for two disorders that have relatively abundant evidence. One disorder is medium-chain acyl-CoA dehydrogenase deficiency (MCADD), which is a fatty acid oxidation disorder that is the most common of the new disorders detected by mass-throughput MS/MS technology. MCADD has been the “poster child” for expanded newborn screening. The other disorder is cystic fibrosis (CF), which is also increasingly being added to screening panels.

Keywords: newborn screening; cystic fibrosis; genetic disorders

Chapter.  8217 words. 

Subjects: Public Health and Epidemiology

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