Table 3.
Degree and Type of Relationship and Communication, Testing, & Diagnosis
| Type of Relative | Communication of Risk n (% of row) | Testing & Diagnosis n (% of row) [Conditional % of row]* | |||
|---|---|---|---|---|---|
| Not Informed (n = 289) | Unknown if Informed (n = 271) | Informed (n = 618) | Tested (n = 322) | Diagnosed (n = 116) | |
| FDR (n = 228) | 12 (5) | 11 (5) | 205 (90) | 132 (58) [64] | 56 (25) [42] |
| Identical twin (n = 2) | 0 | 0 | 2 (100) | 1 (50) [50] | 1 (50) [100] |
| Child (n = 63) | 1 (2) | 1 (2) | 61 (96) | 47 (74) [77] | 17 (27) [36] |
| Sibling (n = 105) | 7 (7) | 6 (6) | 92 (88) | 45 (43) [49] | 16 (15) [36] |
| Parent (n = 58) | 4 (7) | 4 (7) | 50 (86) | 39 (67) [78] | 22 (38) [56] |
| SDR (n = 358) | 60 (17) | 79 (22) | 219 (61) | 116 (32) [53] | 40 (11) [34] |
| Half-sibling (n = 15) | 2 (13) | 5 (33) | 8 (53) | 4 (27) [50] | 1 (7) [25] |
| Nephew or niece (n = 170) | 33 (19) | 47 (28) | 90 (53) | 51 (30) [57] | 13 (8) [25] |
| Grandchild (n =28) | 7 (25) | 0 | 21 (75) | 14 (50) [67] | 7 (25) [50] |
| Maternal aunt or uncle (n = 46) | 2 (4) | 8 (17) | 36 (78) | 21 (46) [58] | 10 (22) [48] |
| Paternal aunt or uncle (n = 78) | 22 (28) | 9 (12) | 47 (60) | 15 (19) [32] | 7 (9) [47] |
| Maternal grandparent (n = 11) | 2 (18) | 0 | 9 (81) | 5 (45) [56] | 2 (18) [40] |
| Paternal grandparent (n = 10) | 1 (10) | 1 (10) | 8 (80) | 6 (60) [75] | 0 (0) [0] |
| TDR (n = 592) | 217 (37) | 181 (31) | 194 (33) | 74 (13) [38] | 20 (3) [27] |
| Cousin (n = 467) | 185 (40) | 131 (28) | 151 (32) | 52 (11) [34] | 17 (4) [33] |
| Great-nephew or niece (n =75) | 28 (37) | 19 (25) | 28 (37) | 15 (20) [54] | 2 (3) [13] |
| Nephew or niece from half-sibling (n = 11) | 2 (18) | 7 (64) | 2 (18) | 1 (9) [50] | 0 (0) [0] |
| Parent’s half-sibling (n = 5) | 1 (20) | 2 (40) | 2 (40) | 0 (0) [0] | 0 (0) [0] |
| Great-uncle or aunt (n = 24) | 1 (4) | 14 (58) | 9 (38) | 5 (21) [56] | 0 (0) [0] |
| Great-grandparents (n = 9) | 0 | 8 (89) | 1 (11) | 0 (0) [0] | 0 (0) [0] |
| Parent’s identical twin’s child (n =1) | 0 | 0 | 1 (100) | 1 (100) [100] | 1 (100) [100] |
*
Conditional percent of row for the Tested column is the number tested out of the number informed about their risk. Conditional percent of row for the Diagnosed column is the number diagnosed out of the number tested.