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Single‐Gene Sequencing in Newborn Screening: Success, Challenge, Hope
Author(s) -
Currier Robert J.
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.883
Subject(s) - cystic fibrosis , newborn screening , cystic fibrosis transmembrane conductance regulator , adrenoleukodystrophy , dna sequencing , biology , carrier testing , gene , genetics , computational biology , medicine , prenatal diagnosis , pregnancy , peroxisome , fetus
Some state‐based newborn screening programs in the United States already use sequencing technology, as a secondary screening test for individual conditions rather than as a broad screening tool. Newborn screening programs sequence an individual gene, such as the cystic fibrosis transmembrane conductance regulator, which causes cystic fibrosis, after an initial biochemical test suggests that a baby might have a condition related to that gene. The experiences of state public health departments with individual‐gene sequencing illustrate both the usefulness of the technology and its complexities. Here I discuss how newborn screening programs investigate cystic fibrosis and, as another example, adrenoleukodystrophy through individual gene sequencing .