Figure 2.

Workflow diagrams of diagnostic rWGS and newborn screening by rWGS

Shown are comparisons of the workflow for Dx-rWGS (A) with that for NBS-rWGS (B) and for a secondary use of data generated by NBS-rWGS (C). The interpretation burden of NBS-rWGS is approximately 1,000-fold less than that of Dx-rWGS. The light blue shading indicates the activities occurring in places of care for newborns or older children, while the darker blue shading indicates activities occurring in clinical laboratories. The dashed green arrows ① and ② in NBS-rWGS indicate feedback loops. Abbreviations: dB, database; EDTA, ethylene diamine tetra-acetic acid; ICU, intensive care unit; EHR, electronic health record; CLIA, clinical laboratory improvements act; GEM AI, a genome interpretation tool that employs artificial intelligence¹⁵; GTRx, Genome-to-Treatment virtual management guidance system.²⁰