Single-Gene Sequencing in Newborn Screening: Success, Challenge, Hope.

08:00 EDT 1st July 2018 | BioPortfolio

Summary of "Single-Gene Sequencing in Newborn Screening: Success, Challenge, Hope."

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.


Journal Details

This article was published in the following journal.

Name: The Hastings Center report
ISSN: 1552-146X
Pages: S37-S38


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Medical and Biotech [MESH] Definitions

The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.

Success in bringing an effort to the desired end; the degree or level of success attained in some specified area (esp. scholastic) or in general.

A phenomenon in which multiple and diverse phenotypic outcomes are influenced by a single gene (or single gene product.)

Belief in a positive outcome.

Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.

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