Table 2.
Economic comparative analysis of WGS with WES and WES reanalysis.
| Unresolved Mendelian families from original WES analysis (n = 38 families) | WGS versus WES as initial genomic test (n = 64 families; includes 38 WES-negative families) | |||||
|---|---|---|---|---|---|---|
| Contemporary WES reanalysis on WES-negative cases (a) | Contemporary WES reanalysis followed by WGSa (b) | WGS on WES-negative cases (c) | WES (contemporary) (i) | WES followed by WGS (ii) | WGSb (iii) | |
| Diagnoses with WES reanalysis | 7 | 7 (7/38; 18%) | — | — | — | — |
| Diagnoses with contemporary WES | — | — | — | 33 | 33 (33/64; 52%) | — |
| Diagnoses with WGS | — | 6 (6/31; 19%) | 13 | — | 6 (6/31; 19%) | 39 |
| Total diagnosed | 7 (7/38; 18%) | 13 (13/38; 34%) | 13 (13/38; 34%) | 33 (33/64; 52%) | 39 (39/64; 61%) | 39 (39/64; 61%) |
| Total cost of WES reanalysis |
AU$15,727 (£8,314; US$10,164) |
AU$15,727 (£8,314; US$10,164) |
— | — | — | — |
| Total cost of contemporary WES | — | — | — | AU$252,945 (£133,720; US$163,482) | AU$252,945 (£133,720; US$163,482) | — |
| Total cost of WGS | — | AU$220,268 (£116,445; US$142,362) | AU$267,240 (£141,277; US$172,722) | — | AU$220,268 (£116,445; US$142,362) | AU$431,191 (£227,950; US$278,685) |
| Total cost |
AU$15,727 (£8,314; US$10,164) |
AU$235,993 (£124,758; US$152,526) | AU$267,240 (£141,277; US$172,722) | AU$252,945 (£133,720; US$163,482) | AU$473,211 (£250,164; US$305,844) | AU$431,191 (£227,950; US$278,685) |
| Incremental cost per additional WGS diagnosis | ||||||
| - Compared to WES reanalysis | Reference | AU$36,710 (£19,407; US$23,727) | AU$41916 (£22,159; US$27,093) | — | — | — |
| (95% confidence interval) | (AU$20,607; 112,902) | (AU$22,790; 128,107) | ||||
| - Compared to initial WES | — | — | — | Reference | AU$36,710 (£19,407; US$23727) | AU$29,708 (£15,705; US$19,201) |
| (95% confidence interval) | (AU$20,946; 112,942) | (AU$16,612; 90,195) | ||||
38 WES-negative unsolved Mendelian families are presented on the left, showing comparative costs for three alternative approaches to further genomic analysis: (a) contemporary WES reanalysis, (b) contemporary WES reanalysis followed by WGS, (c) WGS only. Original 64 unsolved Mendelian families are presented on the right with a simulated early genomic testing model. Comparative costs are shown for three initial genomic approaches: (i) WES (contemporary), (ii) WES followed by WGS, (iii) WGS only. The number of diagnosed families from each technology are shown as well as the total costs and the incremental cost for each additional WGS diagnosis. Costs are in Australian Dollars (laboratory costs obtained as of 13th May 2020 and conversion to British Pounds, and US Dollars with a rate of 1 AUD = 0.53 GBP/0.65 USD/0.60 EUR (https://www.xe.com/currencytables/?from=AUD&date=2020-05-13#table-section)).
aIncludes cost of WES reanalysis and no WGS cost for families diagnosed through ES reanalysis.
bIt was assumed that all cases diagnosed with WES would have been diagnosed with WGS.