A 51-year-old female pursued genetic testing because she thought her mother was diagnosed with ovarian cancer at age 30. After the testing was ordered by the patient’s gynecologist, the patient realized her mother actually had cervical cancer, not ovarian. The test...
A doctor told a 59-year-old patient that she may have Von Hippel-Lindau syndrome (VHL) due to a personal history of polyps and family history of gastrointestinal cancers. The patient met with a genetic counselor, who determined the patient did not have any features...
A 61-year old Jewish woman with a hematologic malignancy and a family history of breast cancer was referred to genetic counseling. As part of her work-up, the heme-onc had ordered somatic testing of the patient’s blood cancer, which revealed a TP53 variant at a high...
A patient diagnosed with metastatic, poorly differentiated, stage IIIB invasive ductal, triple-negative breast cancer was not given pre- or post-test genetic counseling before undergoing genetic testing. After seeing another surgeon for bilateral mastectomy, the...
In 2022, many new therapies and tests for cancer were approved, but a significant number of patients are still not receiving appropriate therapies. Suboptimal testing paradigms, reimbursement issues and physicians’ inability to keep up with rapidly advancing...