Table 3.
Enrollee personal and family history of disease
| N | Aware of risk variant prior to screen | Known close relativea with relevant variant | Personal diagnosis of disease (any age) | Close relativea diagnosed with disease (any age) | Met any guidelines for testing | |
|---|---|---|---|---|---|---|
| Enrollees with positive screening (n = 103b) | ||||||
| BOCc | 73 | 23 | 16 | 12 | 33 | 16 |
| Lynch, CRC, polyposisd | 30 | 7 | 4 | 5 | 7 | 5 |
| FHe | 13 | 1 | 0 | NA | NA | 0 |
| Enrollees with uninformative screening (n = 2761) | ||||||
| BOC | NA | NA | 18 | 99 | 717 | 45 |
| Lynch, CRC, polyposis | NA | NA | 6 | 30 | 345 | 59 |
| FH | NA | NA | 0 | NA | NA | 12 |
aParent, sibling, child
bOne enrollee received positive screening results for both BOC (breast or ovarian cancer) and FH. CHEK2 was considered to increase risk for both breast and colorectal cancer (CRC). HOXB13 was not considered in any of these three groups
cGenes considered to be associated with BOC: ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, RAD51C, RAD51D
dGenes with results considered to be associated with Lynch syndrome, CRC, or polyposis: APC, CHEK2, MLH1, MSH2, MSH6, PMS2, STK11
eGenes considered to be associated with FH: APOB, LDLR