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

From: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

 

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)

  1. 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).
Back to article page