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 |