Table 5.
One-way scenario and sensitivity analyses of total costs.*
| Costs Considered and Parameter Assumptions |
Control Arm, USD |
WGS Arm, USD |
Difference between Arms, USD (95% CI) |
p |
|---|---|---|---|---|
| Cardiology Cohort | (n = 51) | (n = 49) | ||
| Base case | 9841 | 13376 | 3535 (−2490 to 8970) | 0.236 |
| Downstream costs analyzed | ||||
| Immediately attributable services | 176 | 5270 | 5094 (5015 to 5175) | <0.001 |
| Full genetics workup | 9841 | 13400 | 3559 (−2457 to 8980) | 0.234 |
| Secondary findings reported | ||||
| Omitting carrier status | 9841 | 13194 | 3353 (−2634 to 8780) | 0.247 |
| Omitting polygenic risk predictions | 9841 | 13372 | 3531 (−2494 to 8971) | 0.236 |
| Reporting criteria for secondary findings about monogenic disease risks and carrier status | ||||
| Pathogenic or likely pathogenic | 9841 | 13250 | 3409 (−2595 to 8838) | 0.243 |
| Only pathogenic | 9841 | 13244 | 3403 (−2601 to 8839) | 0.244 |
| No secondary findings | 9941 | 13307 | 3366 (−1042 to 7774) | 0.134 |
| Total cost of integrating WGS (base: $5,268) | ||||
| $500 | 9841 | 8610 | −1231 (−7234 to 4198) | 0.371 |
| $1000 | 9841 | 9110 | −731 (−6734 to 4698) | 0.387 |
| $2500 | 9841 | 10609 | 769 (−5234 to 6198) | 0.374 |
| $10000 | 9841 | 18110 | 8269 (2266 to 13698) | 0.035 |
| Healthcare costs | ||||
| 50% of CMS rates | 5838 | 10058 | 4219 (1059 to 7044) | 0.038 |
| 75% of CMS rates | 7840 | 11717 | 3877 (−712 to 7983) | 0.144 |
| 150% of CMS rates | 13845 | 16695 | 2850 (−6094 to 11029) | 0.323 |
| 200% of CMS rates | 17848 | 20013 | 2165 (−9718 to 13041) | 0.358 |
| Perspective | ||||
| Health sector (base case) | 9841 | 13376 | 3535 (−2490 to 8970) | 0.236 |
| Third-party payer (excludes out-of-pocket costs) | 9397 | 13107 | 3710 (−2272 to 9082) | 0.220 |
| Primary Care Cohort | (n = 50) | (n = 50) | ||
| Base case | 3137 | 8894 | 5756 (4196 to 7232) | 0.017 |
| Downstream costs analyzed | ||||
| Immediately attributable services | 196 | 5290 | 5094 (4982 to 5211) | <0.001 |
| Full genetics workup | 3137 | 9018 | 5881 (4330 to 7388) | 0.015 |
| Secondary findings reported† | ||||
| Omitting carrier status | 3137 | 8668 | 5531 (3974 to 7014) | 0.021 |
| Omitting polygenic risk predictions | 3137 | 8878 | 5741 (4177 to 7224) | 0.017 |
| Reporting criteria for monogenic disease risk and carrier status findings | ||||
| Pathogenic or likely pathogenic | 3137 | 8772 | 5635 (4079 to 7124) | 0.019 |
| Only pathogenic | 3137 | 8712 | 5576 (4031 to 7029) | 0.020 |
| Total cost of integrating WGS (base: $5,136) | ||||
| $500 | 3137 | 4169 | 1032 (−538 to 2525) | 0.617 |
| $1000 | 3137 | 4669 | 1532 (−38 to 3025) | 0.490 |
| $2500 | 3137 | 6169 | 3032 (1462 to 4525) | 0.186 |
| $10000 | 3137 | 13669 | 10532 (8962 to 12025) | <0.001 |
| Healthcare costs | ||||
| 50% of CMS rates | 2331 | 7792 | 5461 (4331 to 6480) | <0.001 |
| 75% of CMS rates | 2734 | 8343 | 5609 (4279 to 6866) | 0.003 |
| 150% of CMS rates | 3942 | 9996 | 6054 (3946 to 8125) | 0.077 |
| 200% of CMS rates | 4748 | 11098 | 6350 (3689 to 9031) | 0.154 |
| Perspective | ||||
| Health sector (base case) | 3137 | 8894 | 5756 (4196 to 7232) | 0.017 |
| Third-party payer (excludes out-of-pocket costs) | 2607 | 8416 | 5809 (4571 to 7091) | 0.013 |
*
Analyses compared randomization arms after varying the components that were examined or cost assumptions. Costs included those associated with reviewing family history reports, prior genetic test results (cardiology cohort, only) and whole genome sequencing reports, if applicable; and additional health-related costs over the six-month period afterwards.
†
Scenario analyses of primary care patients assumed monogenic disease risks were considered primary findings.