Genetic counseling has become an integral part of the comprehensive breast cancer program model. Breast cancer programs are required have an on-site or by-referral process for evaluating patients’ genetic risk in order to qualify for national accreditation. The incidence of genetic mutations in families remain small, but results of “variance of uncertain significance” can leave the patient and the clinician in a rather precarious situation.1
In recent years, medical liability claims for either failing to provide counseling and testing or failing to act upon a known mutation with appropriate treatment options has left many clinicians wondering how to best manage the complexities of breast cancer care within the context of genetic abnormalities.
Delay in diagnosis of breast cancer is one of the most common, and most expensive, types of malpractice litigation lawsuits. Although most patients diagnosed with breast cancer are over the age of 50, most breast cancer-related lawsuits are filed by women who are younger than 50.2 This apparent contradiction can be explained by two factors: the disease is often more aggressive and more likely to be fatal in younger patients; and plaintiffs’ attorneys prefer cases in which juries are likely to award large sums of money, which commonly happens in cases involving young children who lose a parent.2
Drs. Cotton and Kirkpatrick site several examples in the June issue of Contemporary OB-GYN3:
Case 1: A 44 -year-old woman was under the care of an OB-GYN. She had no active medical problems and had 3 children, ages 13, 11, and 9. Her maternal grandmother had died of breast cancer at age 64, and her mother had been treated for ovarian cancer. Based on her family history, she had undergone yearly mammography for the past 4 years. The mammograms showed increased breast density, but were interpreted as negative for disease. Then, approximately 9 months after her most recent mammogram, she discovered a lump in her left breast. She was diagnosed as having breast cancer; she underwent surgery, radiation therapy, and chemotherapy, but subsequently died of her disease 3 years after diagnosis.3
This young woman with dense breast tissue had an obvious and unfortunately delay in diagnosis. Other technology such as three-dimensional or whole-breast ultrasound may have found the disease earlier. Given her family history, she would have met criteria for genetic testing as well. With three young children, the jury was swayed by the loss of a young mother. The jury ruled in favor of the woman’s family and awarded them $4 million.
Case 2: A 48-year-old woman underwent genetic testing at a local laboratory, and the result was positive for a BRCA mutation. Believing that she was at high risk of developing cancer, the patient had her breasts, uterus, and ovaries removed. When the patient’s parents were tested to determine which side of the family carried the mutation, they both tested negative. The patient then underwent repeat testing, and another laboratory determined that she did not have a BRCA mutation, meaning that her surgeries had been unnecessary.
Another unfortunate case in which testing was completed, but faulty results were noted. It is standard of care to first pursue family who have already diagnosed with cancer, and then other relatives; this may have saved this woman from unnecessary treatment. Numerous bodies, including the American College of Obstetricians and Gynecologists and the National Comprehensive Cancer Network, currently recommend genetic testing for BRCA mutations. Because BRCA mutations are relatively rare (affecting approximately 1 of 400 people in the general population), testing should be limited to patients who have positive family histories.1 The woman in this case filed a lawsuit, and it was settled for $2 million.3
Further education regarding genetic testing in higher-risk populations should be extended to other specialties that treat women in their practice. If a clinician resides in a state with a breast density notification law, an understanding of the technologies that can help diagnose breast cancer earlier is essential.
1. Grindedal EM, Heramb C, Karsrud I, Ariansen SL, et al. Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. BMC Cancer. 2017;17:438.
2. PIAA Breast Cancer Study, MPL Cancer Claims Miniseries: Volume 1, 2013.
3. Cotton VR, Kirkpatrick DH. Failure to recommend genetic testing in breast cancer. Contemporary OB-GYN. June 26, 2017.