Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels

Now widely adopted, SCID newborn screening has proven effective for early identification and treatment of SCID. In addition, screening has improved our understanding of SCID and related disorders, which are more diverse than originally believed. Newborn screening for SCID illustrates how adding new...

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Bibliographic Details
Main Author: Puck, Jennifer M. (Author)
Format: Electronic Article
Language:English
Check availability: HBZ Gateway
Interlibrary Loan:Interlibrary Loan for the Fachinformationsdienste (Specialized Information Services in Germany)
Published: 2018
In: The Hastings Center report
Year: 2018, Volume: 48, Pages: 7-9
Online Access: Volltext (kostenfrei)
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Summary:Now widely adopted, SCID newborn screening has proven effective for early identification and treatment of SCID. In addition, screening has improved our understanding of SCID and related disorders, which are more diverse than originally believed. Newborn screening for SCID illustrates how adding new disorders to newborn screening panels can be enormously beneficial if evidence-based guidelines are adhered to and if mechanisms are in place to track outcomes and learn along the way. These lessons should guide all additions to newborn screening, including those involving sequencing.
ISSN:1552-146X
Contains:Enthalten in: Hastings Center, The Hastings Center report
Persistent identifiers:DOI: 10.1002/hast.875