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Perspectives of Rare Disease Experts on Newborn Genome Sequencing

8 May 2023

Abstract excerpt

Importance: Newborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad stakeholder support for NBSeq, the perspectives of rare disease experts regarding which diseases should be screened have not been ascertained. Objective: To query rare disease experts about their perspectives on NBSeq and which gene-disease pairs...

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PMID: 37155167
DOI: 10.1001/jamanetworkopen.2023.12231

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