Fig. 3
From: Genome sequencing as a generic diagnostic strategy for rare disease
Assessing the impact of a GS-first transition. A From 833 different clinical reasons for referral in 2022, 750 can be transitioned to GS. B This transition would result in 16,777 individuals receiving GS as the only workflow. For 667 (3%), the GS should be supplemented by an additional test, whereas for the remaining 7126 (29%) GS would not be suited, either because for them the clinical indications included experiments not transferable to GS (n = 6160; 25%), or because the referral did not require data generation (n = 966; 4%). C The use of GS as a primary test has a significant impact on reducing the experimental workload in the original workflows. Proportions of the transferable number of tests per workflow are indicated in black. Abbreviations: targeted next-generation sequencing ((t)NGS), deletion polymerase chain reaction (DelPCR), multiplex ligation-dependant probe amplification (MLPA), fluorescence in situ hybridization (FISH), exome sequencing (ES), long-read sequencing (LRS)