The patient regularly saw the same OB/GYN for years, beginning at least as far back as 2016, when she was 27 years old. According to the OB/GYN's records, the patient initially reported a family history of breast and vulvar cancer in her mother, and heart disease in her father. In 2021, the patient reported that her mother had died from breast cancer.
It does not appear that any formal risk assessment or breast cancer screening was ever done, nor was the patient referred for assessment or testing. If screening had been done, it presumably would have come out that the patient also had a paternal half-sister and that half-sister's daughter with breast cancer, and the patient's father had prostate cancer as well.
In 2022, when the patient was 33 years old, she found a lump in her right breast. The subsequent work-up led to a diagnosis of Stage IV (T2N1M1) cancer, which was ER+, PR-, and HER2-. Genetic testing found that the patient had the BRCA2 gene mutation.
Should earlier risk assessment and/or screening imaging have been done given the patient's family history?
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Do you believe there might have been medical error?
I think that this case hinges on whether or not the OB - GYN has recorded in the medical record whether the patient volunteered the information about the half sister and her daughter having had breast cancer. Her mother having had breast ca and her father having had prostate cancer is not an indication for BRCA screening, but the half sister and her daughter added to the maternal and paternal histories are an indication. If the screening had been done and the BRCA2 mutation was known, then according to the Radiological Society of North America, The American College of Obstetricians and Gynecologists and The American Cancer Society, annual mammography was indicated.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
Failure to record an adequate family history resulted in failure to initiate genetic screening and mammography at age 30. Mammography might have revealed the breast cancer, although mammography in young women has a higher false negative rate than in older women. The assumption is that earlier diagnosis results in improved survival.
What makes you a good expert for this case?
I have practiced OB - GYN in a university setting for many years and therefore have had to remain current in genetic screening and breast imaging guidelines.
How often do you encounter cases similar to this one in your practice?
I've had lots of patients develop breast cancer. A few with BRACA positivity.
Do you believe there might have been medical error?
Yes, given the patient's family history of breast cancer, vulvar cancer, heart disease in her father, and the subsequent development of breast cancer in her mother, it would have been appropriate for the patient's OB/GYN to conduct earlier risk assessment and screening imaging. She clearly met the national criteria for BRCA screening. Her provider had a duty to inform her of this option and also give access for additional testing as outlined by society guidelines. The patient's family history alone should have raised concerns about her potential risk for breast cancer, especially considering the presence of breast cancer in multiple close relatives. A formal risk assessment, which typically involves a detailed evaluation of the patient's personal and family medical history, is essential in identifying individuals at higher risk for certain conditions, including breast cancer. Given the presence of breast cancer in her mother and her paternal half-sister, it would have been prudent to consider the possibility of hereditary breast cancer syndromes, such as those associated with BRCA1 and BRCA2 gene mutations. Genetic testing should have been considered to assess the patient's risk for such mutations. Screening imaging, such as mammography, should have been recommended for earlier detection of any breast abnormalities, especially considering her family history and the fact that she was already in her late 20s when she began seeing the OB/GYN. For individuals with a strong family history of breast cancer or other risk factors, screening may need to start earlier than the standard recommended age for the general population. Early detection is crucial for improving outcomes in breast cancer cases. If the patient had undergone earlier risk assessment and screening imaging, there would have been a higher chance of detecting the cancer at an earlier stage, which could have resulted in more treatment options and potentially a better prognosis. The lack of access to appropriate screening directly resulted in the delay of diagnosis.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
If the patient's breast cancer had been identified earlier through appropriate risk assessment and screening, there might have been more treatment options available, and the prognosis could have been more favorable. Therefore, it is reasonable to consider that the lack of timely risk assessment and screening could have potentially led to an injury in this case. However, a definitive determination of causation would require a thorough evaluation of all medical records to see what was offered to the patient and when.
What makes you a good expert for this case?
I've had 23 years of experience in the field of OB GYN. I'm familiar with the ACOG guidelines for breast cancer screening. I've served as an expert in medical malpractice cases previously.
How often do you encounter cases similar to this one in your practice?
We see a handful of patients annually that are offered BRCA screening and test positive. This results in additional consultations, patient counseling, and better screening for cancer.
Do you believe there might have been medical error?
The patient has a mother who has a diagnosis of breast cancer, which automatically places this patient in a high-risk category. However, what I do not know from the history is how old the mother was when she was diagnosed with this, whether it was bilateral or not, whether or not, she herself had genetic testing.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
Earlier screening should have been performed based on the patient’s family history. Again, however, without the history, as indicated above, I do not know whether or not she would be a candidate for genetic testing.
What makes you a good expert for this case?
I’ve been in practice for 34 years and involved with well woman exams, as well as screening, which included routine screening, but also genetic screening. I have taught residence for 34 years along these lines, so I am well-versed in this.
How often do you encounter cases similar to this one in your practice?
Fortunately, these cases are foreign few in between, and usually referred in. Again with my practice we are very proactive with screening and obtaining good histories, as well as encouraging patients to get genetic counseling and testing when appropriate.
Do you believe there might have been medical error?
Genetic screening, while preferable, is not an established standard of care in a case like this. Absent any symptoms it is not essential to send a patient who is only 33 for a mammogram or other radiologic testing. It is my opinion that the standard of care does not require genetic screening of patients like this to be done in most cases. However, if the patient's mother tested positive for a genetic marker such as BRCA-2, it would be essential to test the patient herself and any other close female relatives of the proband (the patient with cancer). This was not mentioned in this case, however.
Do you believe there might have been causation (i.e. the medical error resulted in an injury)?
I do not believe that there was a "medical error" in this case, again it would be preferable to screen all patients like this one, but it must also be understood that statistically most of them would test negative for BRCA-2. The fact that this patient tested positive is unfortunate, and it would have been good to know this sooner, but it does not change the standard of care which (as above).
What makes you a good expert for this case?
I see women and screen for breast cancer on a daily basis I am familiar with genetic screening concepts
How often do you encounter cases similar to this one in your practice?
Yes, in cases where the proband (affected patient with cancer) has testes positive for BRCA I would certainly offer testing to the daughter(s) of that patient. In cases like this one, where just the fact that the mother of the patient had cancer, I may or may not offer testing; it depends on the individual and again we would like to test the patient who had cancer, as a primary source.
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