Table 6 Comparison of the diagnostic yield of Undiagnosed Diseases Programs
From: International Undiagnosed Diseases Programs (UDPs): components and outcomes
Undiagnosed diseases program | Enrolled sample | Individuals/families where analysis was completed | Individuals/families with a definite molecular diagnosis (diagnostic yield) |
|---|---|---|---|
Australia (Victoria) [25] | 150 families | 150 | 49 (33%) |
Belgium [31] | 329 individuals | 237 | 53 (22%) |
Canada [25] | 1806 families | 1806 | 623 (34%) |
Europe [21] | 4703 individuals | 4411 | 120 (3%) |
Italy [30] | 71 individuals | 13 | 3 (23%) |
Japan [34] | 6301 families | 5136 | 2247 (44%) |
Korea [27] | 458 individuals | 458 | 242 (53%) |
Singapore [24] | 275 individuals | 196 | 73 (37%) |
South Africa [29] | 100 individuals | 100 | 51 (51%) |
Spain [28] | 147 individuals | 30 | 20 (67%) |
Sweden [33] | 3219 individuals | 3219 | 1285 (40%) |
UK [32] | 2183 families | 2183 | 535 (25%) |
US [20] | 964 individuals | 791 | 231 (29%) |