Figure 1: The eight steps involved in the CAUSES study’s diagnostic ES service workflow, with figures indicating the actual number of families who were processed through each step of the workflow in 2016.

For costing purposes, 5a and 5b are aggregated into a single bioinformatics analysis step (step 5). Note that the change from 146 families in step 6 to 115 families in step 8 reflects the substantial time period required to make a final determination and communicate it to families, not attrition in the number of participants. Similarly, the reduction in the number of families between steps 4 and 5a does not represent attrition, but rather indicates that the bioinformatics analyses for these families were not completed in 2016. CAUSES, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service study.