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 cacer, including ultrasounds and blood analyte testing (ie CA125), 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 physician 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 BRCA 1 and 2 mutations. BRCA 1 is present in 2-3% of the general population, in 8% of women of Ashkenazi Jewish descent, and in 4% of Hispanic women. BRCA 2 is present in 2% of the general popuation, and in 1% of women of Ashkenazi Jewish descent, and in 3% of the African American population.
If a woman has a BRCA 1 mutation she is has a 60% chance of developing breast cancer by age 70, and a 50% chance of developing ovarian cancer.
If a woman has a BRCA 2 mutation, she has a 50 to 85% chance of developing breast cancer, and an approximately 30% 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 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 (ie mother / sister) who had ovarian cancer _or_ who have a second degree relative (ie 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. One strategy for appopriate testing is to routinely refer to genetic counseling, which if easily available will lead to the patient getting excellent information and counseling prior to having a test run, if appropriate. This strategy works great where there is readily available appointments, and with patients that are likely to follow a doctor’s recommendation to go to such a visit. There is, however, a subset of patients that will for whatever not reason not follow a recommendation to go to a genetic counselor. I think in many cases the concern for a heritable cancer is something that doesn’t directly influence a patient’s life, and they put addressing in on the back burner. As such, direct testing may lead to a greater likelihood of actually testing appropriate women, and is reasonable to consider in some practices. In the end, I think the most important thing is that physicians keeps the issue in front-of-mind, and appropriately manage patients with a strategy that makes sense for each individual patient.
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 considering testing appropriate patients for BRCA, make it a more prominent part of your practice, whether that be through direct testing or routine referral to genetic counseling. If you are a woman who has a concern about your family history of breast or ovarian cancer, please ask your doctor if its appropriate for you to be tested, either directly or through referral to a genetic counselor. Because while screening the general population for the actual cancer is important, finding the women who are at the highest risk is also an important part of care.
Dr. Fogelson practices gynecologic surgery and general gynecology at Pearl Women’s Center in Portland, OR. He can be reached at (503) 771-1183, or http://www.pearlwomenscenter.com./
Not surprisingly, this post has gotten a lot of interest, mostly negatively from the genetic counseling world. The gist is that that genetic counselors think it a terrible idea for a non-genetic counselor to order these types of tests without referring to them first, which I did suggest in the original text.
In many ways, I agree with them. They have years of training and a deeper understanding of each potential mutation than most physicians have (absent physicians with genetics fellowships). They also have more time to talk to patients about these issues, and thus can be more thorough in their counseling. As such, the optimal course for patients who are considering BRCA testing, or any other genetic counseling, is to see a genetic counselor first. Some insurers (Aetna I’m looking at you) even require it.
We must also recognize, though, that these genetic counselors see the world through a different lens than a physician that refers to them. They see patients that come to see them and do a great job with them. What they don’t see are the women who had discussions with their doctors about seeing genetic counselors, but that never actually came to see them.
In most cases, a concern for a heritable cancer syndrome develops because of a routine history with a thoughtful physician. It is only the minority where a patient actually comes in with the expressed concern about a heritable cancer syndrome. So in most cases, it is the physician who is bringing up the issue and saying “hey we should consider this issue”. Now this consideration can be referral to a genetic counselor, or it may be considering if direct testing is appropriate. What I know from experience, is that if I pass it off to a genetic counselor, a substantial number of patients are going to take my advice to go se them and not act on it. After all, a genetic predisposition isn’t a sickness that a patient can feel. If somebody has chest pain and I refer them to a cardiologist, they are going to go. But if they have a completely unseen and unfelt predisposition to some future disease, maybe they won’t. In fact, definitely some won’t. So the hard line everybody has to see a genetic counselor prior to testing is missing this point, in my opinion. I think that it is entirely reasonable to ask a patient if they would like to see (or even recommend that they see) a genetic counselor, and also entirely reasonable that some patients may be tested directly. After all, individualized care is what we do.
In the end, I think this question is a bit of a distraction, and not really the point of my article anyway. What is important is that physicians think about this issue more. Many physicians don’t think about it much at all, and may neither refer to a genetic counselor nor order appropriate testing. And that is something worth trying to change.
In light of this issue, I have edited the original article a bit, as I do think it was a little too much against sending to genetic counseling, which was perhaps misguided.
Drs Fogelson and Browne talk about articles from July of 2016. An update on Zika Virus in the USA, high volume vs low volume surgeons, steroids for thrombocytopenia in platelets (it doesn’t work?), and more!
Sponsored by TrueLearn. For a 10% discount on your order use the code “academicobgyn”
Dr Nicholas Fogelson of Pearl Women’s Center in Portland, OR demonstrates a technique for temporary ovarian suspension. This technique is useful for lifting the ovaries off the pelvic sidewall, exposing the area for treatment of endometriosis or other pathology.
I am happy to announce a new partnership with a great new sponsor, TrueLearn. TrueLearn is a web based platform for learning material to improve performance on standardized medical exams, with platforms for specific specialties as well as general medical boards. In OB/GYN TrueLearn offers question banks for CREOGS, ABOG boards, as well as general OB/GYN question banks. In each case, the online questions exactly simulate the computer environment you will see when you actually take the test as well.
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This month’s question from the OB/GYN MOC Series:
A 37 year old Gravida 1 presents in labor at 39 weeks gestation. Her past medical history is significant for SLE. Which of the following in her history would be LEAST indicative for stress dose steroids in labor?
A. Cushingoid appearance
B. Recent use of methyprednisolone taper for seven days just prior to labor
C. Use of dexamethasone 0.75 mg twice a day for the past month
D. Use of hydrocortisone 40mg /day for her entire pregnancy
E. Use of prednisone 10 mg/day for her last trimester of pregnancy.
Drs. Fogelson and Browne are Back! We discuss journal articles from May and June of the Green, Grey, and AAGL journals, as well as some NEJM thrown in. Topics include the morcellation debate, HIV and pre-eclampsia, periviable cerclage, and endometriosis in women having hysterectomies for pelvic pain. This episode sponsored by TrueLearn!.
On The Criticism of Papers We Don’t Agree With, and How Endometriosis is More Common Than Many Doctors Think
As academics, we are all about evidence based medicine. We practice 100% based on what we read, and often change our method of practice when new evidence comes out that shows us the right path. Right?
Of course not…. In reality, most of us slowly integrate new data into our practice over many years, and only when there is a preponderance of evidence do we really change from what we previously thought was right. Until that time, we hold up the papers we like and attack the methodologies of papers we don’t.
Today a bill passed the Oklahoma State House making it a felony for a physician to perform an abortion. Are you serious?
I assume that the governor will veto this bill. At least I hope she does. Because when she was sworn in as governor, despite being a conservative, she swore to uphold the constitution the United States of America. And I have never seen an anti-abortion bill so obviously unconstitutional. Roe V Wade protected women from laws that made abortion unduly difficult to obtain, and putting doctors in jail for doing an abortion certainly fits that description.
It saddens me that states continue to pass laws that don’t even pass the sniff test for unconstitutionality. It means that the legislators in the state have completely abdicated their responsibility towards our country. Even the most anti-abortion legislator should stand up and say ‘sounds good to me, but since this is obviously against our country’s constitution, I am voting no’. Instead they jam up the legislature and the judicial system with challenges, and eventually the law gets ruled out by the courts.
Can’t we just skip that step? I’d love to see a system where a state is punished for passing a law that is obviously unconstitutional. The court system could decide when that has happened, and do something bad to the state. Maybe the governor gets a dock in pay, or has to pay for the court costs out of their own pocket.
Want to make abortion illegal in this country? You suck, for the first thing. But after you finished sucking, then you have to get to the business of amending the Constitution of the United States. And given than 1 in 3 women in this country has had an abortion in their life, and it remains the most common procedure performed for humans on the planet, I think you’re going to have a hard time getting that one through. And until you do, stop trying to get around that requirement by passing bills that are just going to get reversed. Its a waste of this country’s time. Worse, its black mark on our entire society that so many people care so little about a woman’s right to control what happens in her own body. Shiver me timbers.