Figure 1

Return of results criteria in the BabySeq project. (a) All newborns in the sequencing group receive a newborn genomic sequencing report (NGSR) that returns risk and carrier status for childhood-onset disease and pharmacogenomics variants that may be relevant to the pediatric population. In addition, sick newborns receive an indication-based analysis (IBA) that returns all variants with evidence to cause or contribute to the infant’s disease, with an option to query pharmacogenomics variants related to the infant’s care. (b) Criteria for genes to be included in the NGSR and IBA. NGSR was limited to genes with strong evidence to cause highly penetrant childhood-onset disorders; while genes related to the infant’s clinical features with moderate evidence or moderate penetrance or typically present at later ages were also included in IBA. When a specific disease is suspected based on the infant’s presentation, genes associated with that disease with limited evidence or low penetrance may also be returned. (c) Criteria for variants to be included in the NGSR and IBA. Only pathogenic and likely pathogenic variants were returned in the NGSR, whereas IBA also included variants of uncertain significance in genes associated with the infant’s indication.