When I talk to my patients, one of the greatest concerns I hear is regarding the fear that they might get a cancer at some point in their life. It is a very reasonable fear, as cancers of the female reproductive tract and breasts are not as rare as we might like. Perhaps educated by Angelina Jolie’s announcement of her BRCA mutation in 2013, many women now ask me about BRCA testing. In the past, I referred to genetic counseling for this, but more recently I have become more educated on exactly who qualifies for testing, and send quite a few BRCA tests out of my office myself.
Across the board, somewhere between 1 in 8 and 1 in 10 women will get breast cancer over the course of their life, if they live to an age of 85 years old. Fortunately, cure rates are high because we have many screening methodologies that are quite effective at finding it before it has spread widely, allowing for relatively straightforward treatments that are usually curative. These screenings include typical mammography, as well as high-risk screening methodologies like breast MRI.
Ovarian cancer is far less common than breast cancer, affecting about 1 out of every 100 women, though it is also far more deadly. While breast cancer is usually caught early enough to be cured, ovarian cancer is usually found when it is already at an advanced stage, and even with treatment significantly shortens the life of women affected by it. We have investigated various strategies to screen for ovarian cancer, including ultrasounds and blood analyte testing (i.e., CA-125), but to date, no screening methodology has been shown to be truly useful in detecting the disease early, and unfortunately most women diagnosed eventually die from complications of the disease.
It is my impression that physicians are very good at screening for breast cancer, and aware of women at high risk for ovarian cancer. This is a good thing. What we are not great at is identifying women who are at the highest risk of developing the disease: those that have heritable mutations such as BRCA mutation.
The most common heritable mutation for breast and ovarian cancer is BRCA1 and 2 mutations. BRCA1 is present in 2 to 3 percent of the general population, in 8 percent of women of Ashkenazi Jewish descent, and in 4 percent of Hispanic women. BRCA2 is present in 2 percent of the general population, and in 1 percent of women of Ashkenazi Jewish descent, and in 3 percent of the African-American population.
If a woman has a BRCA1 mutation she is has a 60 percent chance of developing breast cancer by age 70, and a 50 percent chance of developing ovarian cancer.
If a woman has a BRCA2 mutation, she has a 50 to 85 percent chance of developing breast cancer, and an approximately 30 percent chance of developing ovarian cancer.
Women that have these mutations can dramatically reduce their likelihood of dying from these cancers by doing advanced screening, and in many cases can consider removal of the potentially cancerous organs once they have completed childbearing. (Something brought into the mainstream awareness by Angelina Jolie a few years ago, who had a prophylactic mastectomy and oophorectomy for this reason.)
So given this important information, why are physicians not very active in ordering these tests?
The biggest reasons are two-fold: 1) The tests are pretty expensive, with list prices between 2 and 4 thousand dollars depending on the lab; and, 2) The criteria under which these tests will be paid by insurance have been shifting in the last few years, and it has been hard to tell who will have their tests paid for and who will not. It is not worthwhile (or cost effective) to screen every woman for BRCA, but for women of high risk is not only useful but also cost effective. But just how much risk is enough, and how do we quantify this and understand who will be covered for testing and who won’t? It is this question that keeps many qualifying women from getting screened in many physician’s offices today.
Fortunately, these issues have been greatly simplified in the last two years.
In general, BRCA testing will be covered by insurance for women who meet NCCN (National Comprehensive Cancer Network) guidelines for testing, which include:
1. Women who have a direct relative positive for a BRCA mutation
2. Women who have breast cancer at an age less than 50.
3. Women who develop triple negative breast cancer at an age less than 60 (i.e., negative progesterone receptor, negative estrogen receptor, HER2 receptor negative).
4. Women who have had two different breast cancers.
5. Women who have a first-degree (mother/sister) who had ovarian cancer or who have a second-degree relative (grandmother/aunt ) with ovarian cancer.
6. Women who have two first-degree relatives with breast cancer at any age.
7. Women who have one relative who had breast cancer at an age less than 50.
Women with family histories of pancreatic cancer may also qualify, as this disease is also associated with BRCA mutation in some cases.
For women that meet these guidelines, testing should be largely covered by insurance, and in most cases are paid entirely by insurance. The optimal course for screening these women is to just send the test. Referring to genetic counseling makes sense, but in actuality reduces the likelihood that a qualifying woman actually tested, as it creates another barrier to testing (scheduling, cost, etc.) that may not be negotiated successfully.
It is also notable that in the past there was an emphasis on testing the index cases in families where there were notable cancers. For example, when a patient comes in concerned because her mother had ovarian cancer, there was a lot of effort given to testing the mother rather than testing the patient. While this was theoretically a better idea genetically (as the mother was more likely to be positive than the patient), it turns out that this strategy tends to drastically reduce the actual frequency of testing appropriate people since it puts up a barrier. So now the NCCN just recommends testing the patient in front of you rather than seeking out their parents to test.
In the last few years, I have begun to test far more women than I used to. While I have only found a single woman who actually had a BRCA mutation, I have consistently found that women who are tested and are found to be negative really appreciate having had the opportunity to be tested, and feel great reassurance that they do not have the mutation, which is of value in itself.
So if you are a physician and are not regularly testing appropriate patients for BRCA, consider adding it to your practice more regularly. If you are a woman who has a concern about your family history of breast or ovarian cancer, please ask your doctor if it’s appropriate for you to be tested. Because while screening the general population for the actual cancer is important, finding the women who are at the highest risk is perhaps even more so.
Nicholas Fogelson is an obstetrician-gynecologist who blogs at Academic OB/GYN.
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