This case is part of our ongoing Genetic Testing Challenges in Oncology series, which examines how gaps in genetic testing and communication can delay accurate diagnoses. In this case, unclear counseling about a hereditary cancer risk kept a life-saving warning from ever reaching the person who needed it most.
A Family History Reveals a Missed Warning
In 2023, an oncologist referred a 34-year-old woman for genetic counseling. She had a large, aggressive triple-negative breast tumor. While reviewing the patient’s family history, her genetic counselor found something important: doctors had diagnosed the patient’s mother with bilateral breast cancers twice, at ages 44 and 63. The mother had undergone genetic testing three years earlier at another practice within the same health system.
That earlier testing had revealed a BRCA1 pathogenic variant. This finding put the mother and her blood relatives at significantly elevated risk for breast, ovarian, prostate, and pancreatic cancers. According to the post-test counseling notes, the surgeon had strongly advised the mother to tell her daughter and siblings to get tested.
A Daughter Never Told, and a Diagnosis Made Too Late
However, the daughter, now presenting with late-stage cancer, had never heard of the BRCA1 variant. No one had offered her testing. She never had the chance to consider preventive surgeries or intensified screening that might have caught her cancer earlier.
The genetic counselor soon learned why. The practice that had treated the mother relied on a nurse practitioner with no formal genetics training to perform genetic counseling. In fact, the nurse’s credentials came primarily from paid dinners hosted by commercial testing labs. As a result, the health system ultimately revoked the nurse’s genetics privileges. By the time doctors diagnosed the daughter’s cancer, it carried a five-year survival rate as low as 12 percent.
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