Table 3.
Genetic testing outcomes by cohort
FQHC | Tertiary | P** | |
---|---|---|---|
Number of patients | 10 | 34 | |
Completed genetic testing, n (%) | 6 (60%) | 25 (74%) | 0.45 |
Reason genetic testing not completed, n (%) | 0.11 | ||
Insurance or cost considerations* | 4 (100) | 4 (44) | |
Patient wanted time to think about it | 0 (0) | 5 (56) | |
Type of genetic testing, n (%) | 0.36 | ||
Multi-gene panel testing | 3 (50) | 18 (72) | |
Single gene testing | 3 (50) | 7 (28) | |
Type of single gene test, n (%) | |||
BRCA1 and BRCA2 | 1 (33) | 2 (29) | |
Lynch syndrome | 2 (67) | 0 (0) | |
Polyposis (APC, MUTYH) | 0 (0) | 2 (29) | |
Ashkenazi Jewish founder mutations | 0 (0) | 1 (14) | |
Other*** | 0 (0) | 2 (29) | |
Mutation identified, n (%) | 0 (0) | 5 (20) | 0.55 |
Gene, n | |||
BRCA1 | 0 | 1 | |
Lynch (MLH1 (2), PMS2 (1)) | 0 | 3 | |
CHEK2 | 0 | 1 | |
Variant of unknown significance identified, n (%) | 2 (33) | 6 (24) | 0.63 |
Gene, n | |||
BRCA1 | 0 | 1 | |
BRCA2 | 1 | 0 | |
BRIP1 | 1 | 0 | |
MLH1 | 0 | 1 | |
MSH2 | 0 | 1 | |
NBN | 0 | 1 | |
NF1 | 0 | 2 |
*FQHC patients: Medicaid (N = 2), Medicare (N = 1), private (N = 1); DFCI patients: Medicare (N = 2), private (N = 2)
**P values are calculated by Fisher’s exact test
***Other is noted for patients who had two single gene tests (i.e., polyposis and Lynch syndrome)