Article

A multi-dimensional framework for establishing and managing a genomic newborn screening program

2025-06-17

Abstract excerpt

<h4>Purpose</h4> Newborn screening (NBS) is an effective measure of secondary prevention. The application of genomic sequencing in population-based screening would enable further expansions of the NBS disease panel and a genomic NBS (gNBS). The selection of NBS target diseases is still based on the Wilson and Jungner screening criteria from 1968, which are considered incomplete, rendering the necessity of develop...

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Literature Corpus work: d9e97ff7-412a-5447-8a55-78d70fa2feeb
DOI: 10.1101/2025.06.17.25329471

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