Perspectives of Rare Disease Experts on Newborn Genome Sequencing.

ABSTRACT:

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 they consider appropriate to evaluate in apparently healthy newborns.

Design, setting, and participants

This survey study, designed between November 2, 2021, and February 11, 2022, assessed experts' perspectives on 6 statements related to NBSeq. Experts were also asked to indicate whether they would recommend including each of 649 gene-disease pairs associated wit

SUBMITTER: Gold NB 

PROVIDER: S-EPMC10167563 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature