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Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels
Author(s) -
Puck Jennifer M.
Publication year - 2018
Publication title -
hastings center report
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.515
H-Index - 63
eISSN - 1552-146X
pISSN - 0093-0334
DOI - 10.1002/hast.875
Subject(s) - newborn screening , severe combined immunodeficiency , identification (biology) , medicine , pediatrics , intensive care medicine , biology , genetics , botany , gene
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 .