Article

Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews

2024-09-04

Abstract excerpt

<h4>Background</h4> Assessment of newborn screening using whole genome sequencing (WGS) presents considerable challenges for policy advisors, not least given the logistics of simultaneously evaluating the evidence for 200 rare genetic conditions. The ‘genotype first’ approach has the potential for harms, and benefits are uncertain. <h4>Objective</h4> To assess different approaches to evaluating WGS for newborn s...

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Literature Corpus work: c7498a56-1dbb-5d24-b851-23801c310f86
DOI: 10.1101/2024.09.03.24312979

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