Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test F Guo et al, Genetics in Medicine, October 12, 2023

From the abstract: "Genome sequencing (GS) is one of the most comprehensive assays that interrogate single nucleotide variants, copy number variants, mitochondrial variants, repeat expansions, and structural variants in one assay. Despite the clear technical superiority, the full clinical utility of GS has yet to be determined. The overall diagnostic yield was 28% (585/2100). The diagnostic yield for GS as the first-tier test was 26% (294/1146). Among cases with prior non-diagnostic genetic tests, GS provided a diagnosis for 27% (247/910) of cases. " https://phgkb.cdc.gov/PHGKB/phgHome.action?query=Whole%20genome%20sequencing&action=search&Mysubmit=Search