Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels. (14th August 2018)

• Record Type: Journal Article
• Authors: Puck, Jennifer M.
• Editors: Johnston, Josephine; Parens, Erik; Koenig, Barbara A.
• Is Part Of: Hastings Center report. Volume 48(2018)Supplement 2
• Page Start: S7
• Page End: S9
• Publication Date: 2018-08-14
• Subjects: Medical ethics -- Periodicals; Bioethics -- Periodicals; 174.205
• DOI: 10.1002/hast.875
• Languages: English
• ISSNs: 0093-0334

Abstract

Abstract: 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 .