Table 1.
Population impact and cost-effectiveness of offering preventive genomic screening to all young adults in the Australian health system at AUD$400/test
| Incremental genomic screening & follow-up costs ($ million) | Incremental subsequent downstream medical costs ($ million) | Incremental total health system investment ($ million) | Disability-adjusted life years (DALYs) prevented | Disease cases prevented | Disease cases prevented per million | Deaths prevented | Deaths prevented per million | ICER (Cost/DALYs prevented) | |
|---|---|---|---|---|---|---|---|---|---|
| Screening for individual conditions | |||||||||
| Cancer | |||||||||
| Breast BRCA1/2 | 607 (418, 807) | 40 (23, 68) | 651 (448, 865) | 32,984 (16,843, 59,037) | 1278 (654, 2358) | 978 (500, 1803) | 617 (321, 1122) | 472 (245, 858) | $19,395 (12,087, 33,166) |
| Ovarian BRCA1/2 | 609 (418, 805) | 1 (−6, 9) | 611 (419, 805) | 15,673 (8022, 29,451) | 833 (429, 1542) | 637 (328, 1179) | 491 (253, 909) | 375 (194, 695) | $38,350 (23,288, 66,717) |
| Colorectal MLH1, MSH2 | 599 (412, 793) | 34 (20, 55) | 633 (435, 840) | 12,175 (7107, 20,303) | 166 (88, 301) | 62 (33, 113) | 100 (55, 175) | 37 (21, 65) | $51,687 (36,064, 74,725) |
| Endometrial MLH1, MSH2 | 602 (405, 786) | 1 (0, 2) | 603 (406, 787) | 1708 (905, 3158) | 86 (46, 159) | 66 (35, 122) | 36 (19, 67) | 28 (15, 51) | $350,593 (212,528, 578,747) |
| Preconception carrier screening | |||||||||
| Cystic fibrosis | 706 (530, 889) | −156 (−288, −77) | 544 (394, 723) | 4339 (2029, 8351) | 169 (85, 310) | 72 (36, 132) | — | — | $126,630 (59,819, 269,236) |
| Spinal muscular atrophy | 711 (530, 887) | −4 (−8, −2) | 707 (527, 882) | 1490 (745, 2857) | 70 (37, 124) | 30 (16, 53) | — | — | $468,151 (273,776, 842,750) |
| Fragile X syndrome | 708 (526, 883) | −223 (−396, −120) | 465 (300, 654) | 3586 (1670, 6720) | 240 (140, 387) | 103 (60, 165) | — | — | $130,296 (59,749, 294,300) |
| Combined screening for cancers/conditions | |||||||||
| Breast and ovarian cancers: BRCA1/2 | 608 (419, 806) | 42 (22, 71) | 652 (450, 865) | 49,788 (30,869, 78,496) | 2146 (1369, 3345) | 1641 (1047, 2558) | 1129 (714, 1749) | 863 (546, 1338) | $12,973 (8532, 19,759) |
| Colorectal and endometrial cancers: MLH1, MSH2 | 599 (412, 793) | 35 (21, 55) | 634 (436, 842) | 13,967 (8700, 22,069) | 257 (158, 399) | 131 (81, 200) | 138 (86, 215) | 67 (42, 100) | $44,936 (32,275, 63,092) |
| Combined all cancer genes: BRCA1/2, MLH1, MSH2 | 611 (424, 809) | 78 (52, 111) | 690 (485, 906) | 63,837 (43,878, 94,540) | 2411 (1626, 3643) | 1775 (1178, 2705) | 1270 (869, 1907) | 931 (622, 1414) | $10,656 (7470, 15,237) |
| Combined preconception carrier screening: CF/SMA/FXS | 710 (534, 893) | −391 (−599, −249) | 317 (88, 537) | 9702 (6239, 15,020) | 491 (344, 692) | 210 (147, 296) | — | — | $32,145 (7239, 67,995) |
| Combined all carrier screening and cancer genes | 622 (433, 819) | −311 (−517, −168) | 302 (0, 573) | 73,728 (53,303, 104,266) | 2912 (2117, 4136) | 1985 (1391, 2931) | 1270 (869, 1907) | 931 (622, 1414) | $4038 (4, 7740) |
We calculated the cost-effectiveness and impact of offering preventive population genomic screening to all adults aged 18–25 in the Australian health-care system, compared with current criteria-based testing, for seven genetic conditions. The term “incremental” refers to the additional investment cost of offering population-based screening, compared with current costs incurred by criteria-based testing in Australia. “Incremental genomic screening and follow-up costs” refers to the direct, up-front costs of genomic screening, including the costs of confirmatory testing for positive screening results (re-testing in an accredited laboratory) and post-test genetic counseling for all identified at-risk individuals and couples. “Incremental subsequent downstream medical costs” refers to the increase or decrease in total health-care spending as a result of genomic screening, including the costs of interventions, treatments, and medical procedures after screening. “Incremental total health system investment” refers to the sum of the two main cost categories (up-front screening + subsequent downstream medical costs). “DALYs prevented” refers to disability-adjusted life years prevented, a standard measure for the burden of disease. “ICER” refers to the incremental cost-effectiveness ratio, a standard measure for cost-effectiveness (cost/DALYs prevented).