Table 2 Summary of findings in economic evaluation articles
First author (year) country/perspective | Type of economic evaluation; type of CGS; comparator | Clinical setting; sample size | Cost of potentially replaced tests / incremental cost per additional Dx by CGS (in USD)a |
|---|---|---|---|
Joshi (2016)153 USA / hospital (not stated) | Descriptive; trio ES; standard diagnostics | Epilepsy center; n = 4 (including 2 siblings) | Total charges for standard diagnostics range $9,015–$35,483; charge for trio ES $6,100 / not calculated |
Monroe (2016)189 Netherlands / hospital system | Scenario analysis; trio ES; standard diagnostics | Specialty center for intellectual disability; n = 17 | Average diagnostic odyssey 6.6 years; average cost of traditional diagnostic pathway: $16,409. For patients who receive Dx, ES to replace genetic tests would save $4,986 and to replace metabolic tests would save $2,553, on average. For patients who did not receive Dx, ES to replace genetic tests would save $5,669 on average. / not calculated |
Stark (2017)190 Australia / hospital system | CEA; proband ES; standard diagnostics | NICU, PICU, other inpatient, and outpatient; n = 40 | Avg. cost per Dx, traditional diagnostics: $21,099, ES: $3,937 / ES as a first-tier diagnostic test: savings of $1,702; ES to replace some diagnostic tests: $2,045; ES after all other diagnostic tests: $6,327 |
Tan (2017)191 Australia / health care system (not stated) | CEA; proband ES; standard diagnostics | Ambulatory outpatient clinics; n = 44 | Avg. diagnostic odyssey 6 years, 19 tests, cost of $7,509. Cost per patient of ES at initial genetics appointment $3,933. / ES at initial tertiary clinical presentation: savings of $6,840; ES at initial genetics consult: savings of $4,143; ES after standard diagnostics: $4,371 |
