Development and content validation of the Clinician-reported Genetic testing Utility InDEx for genomic newborn screening (C-GUIDE NBS)

Genomic newborn screening (gNBS) is emerging worldwide. Evidence of clinical utility, acceptability and performance are required to guide policy and funding decisions. We aimed to develop a tool to quantify clinical utility of gNBS, called C-GUIDE NBS, adapted from the Clinician-reported Genetic testing Utility InDEX (C-GUIDE) for diagnostic testing.