Table 2.

Categories of results that are returned to the two cohorts of the NC NEXUS study

Categories of results	Well-child cohort	Diagnosed cohort
NGS-NBS results	Only pathogenic variants	Only pathogenic variants
Diagnostic results	Not applicable	Results of indication-based analysis for diagnosed conditions: phenylketonuria, MCADD, cystic fibrosis, hearing loss, lysosomal storage diseases, adrenoleukodystrophy, primary ciliary dyskinesia Pathogenic, likely pathogenic, and variants of unknown significance reported
Categories of information that parents randomized to the decision arm are eligible to request:
Childhood-onset non-medically actionable results	Pathogenic and likely pathogenic variants reported	Pathogenic and likely pathogenic variants reported
Adult-onset medically actionable results	Pathogenic and likely pathogenic variants reported	Pathogenic and likely pathogenic variants reported
Carrier results	Pathogenic and likely pathogenic variants reported	Pathogenic and likely pathogenic variants reported