Table 2. Possible scenario for a hypothetical patient, Betty.

BettyA 40-year-old healthy black woman who comes to her physician’s office with her mother. She is married and has three daughters. She has no complaints.
Betty’s physicianCompletes Betty’s personal medical history and takes a three-generation family health history (Fig. 1A). Based on her family history, Betty’s physician believes that her family may have HBOC as a result of germline mutations in BRCA1/2. He explains this to Betty and her mother and refers both to a cancer genetics professional.
BettyRefuses because she has had DTC genomic testing and the test says she is at low risk for several cancers (Fig. 1B). Seven years later, Betty develops metastatic ovarian cancer and dies, despite standard chemotherapy.
Alternative course of events with improved outcomeBetty and her affected mother (Fig. 1A) should have consulted with a cancer genetics professional, and in the setting of genetic counseling, the mother (who is a living family member affected with a component cancer and therefore the most informative person to test) should have been offered BRCA1/2 testing, including testing for large deletions and rearrangements in these genes (as there is a higher likelihood of these mutations in black individuals with HBOC). If a family-specific mutation was found in the mother, Betty could have been offered predictive testing for the single-site family-specific mutation in the setting of genetic counseling. If Betty were found to carry the mutation, then she could either receive high-risk breast screening (including breast magnetic resonance imaging) or prophylactic bilateral mastectomy; she also could have received prophylactic removal of the ovaries and uterus, which currently is the only intervention shown to save lives from BRCA1/2-related ovarian cancer. Knowing that Betty has a germline BRCA1/2 mutation could have led her physicians to treat her with poly(ADP-ribose) polymerase inhibitors, which have been shown to be highly effective in treating BRCA1/2-related cancers that have metastasized, rather than standard chemotherapy (18).