Table 3.
Summary of Responses Related to Knowledge and Recommendations for Genetic Testing and Medical Management
| |
All Respondents (n=87) |
Nongenetics (n=81) |
Genetics (n=6) |
|---|---|---|---|
| Question posed | n (%) | n (%) | n (%) |
| BRCA knowledge: | |||
| Females can inherit BRCA1 mutation from father's side | |||
| Yes | 83 (96) | 77 (95) | 6 (100) |
| No | 1 (1) | 1 (1) | 0 |
| Not sure | 3 (3) | 3 (4) | 0 |
| % breast cancer patients with germline BRCA mutation | |||
| ≤10% | 52 (61) | 46 (58) | 6 (100) |
| >10% | 33 (39) | 33 (42) | 0 |
| BRCA management, risk assessment, and testing recommendations: | |||
| Scenario 1: Screening recommendations for a 35-year-old BRCA mutation carrier who desires no prophylactic surgerya | |||
| Mammographyb | 81 (96) | 76 (96) | 5 (100) |
| Breast ultrasonographyb | 55 (65) | 54 (68) | 1 (20) |
| Breast MRIb | 72 (86) | 67 (85) | 5 (100) |
| Transvaginal ultrasonographyb | 64 (76) | 59 (75) | 5 (100) |
| CA-125 levelb | 59 (70) | 54 (68) | 5 (100) |
| Scenario 2: Management recommendations for a 40-year-old woman with a risk assessment of 30% for a BRCA mutation based on BRCAPRO, who has a negative comprehensive BRACAnalysisc | |||
| Reassure patient that risk for breast cancer is similar to general population | 31 (37) | 31 (40) | 0 |
| Advise patient that they are at increased breast cancer risk based on family cancer history | 71 (84) | 65 (83) | 6 (100) |
| Order BRACAnalysis Large Rearrangement Test | 35 (43) | 30 (39) | 5 (83) |
| Refer to a genetics professional | * | 45 (57) | * |
| Scenario 3: 38-year-old woman with breast cancer treated with unilateral mastectomy at age 32 who has a BRCA1 variant of uncertain significance (VUS). She has a sister with the same BRCA VUS who had breast cancer at age 40, and another sister who is age 42 and well. Recommendations for the 42-year-old sister include:d | |||
| Test for BRCA1 VUS only | 37 (44) | 36 (44) | 1 (17) |
| Undergo full BRCA1/2 analysis | 35 (42) | 35 (43) | 0 |
| No further testing at this time | 12 (14) | 7 (9) | 5 (83) |
a
Number (%) of respondents who would recommend screening method at least annually.
b
Three professionals (two nongenetics and one genetics) who do not make any recommendations were removed from the denominator to calculate valid percentages.
c
Number (%) of respondents who indicated that they would likely or always perform action.
d
Number (%) of respondents who chose each of the three mutually exclusive options.
*
Not applicable to genetics professionals.