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The Importance of Genetic Screening for Heritable Cancer Syndromes

September 6, 2016 5 comments

 

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.

angelina-jolie-mastectomyOvarian 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./

 

 

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Addenda (9/22/2016)

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.

Taking Care of the Dying Jehovah’s Witness

September 4, 2011 59 comments

This month I started a fellowship that predominantly involves taking care of women with cancer.  Through surgery, chemotherapy, and other medications we do our best to cure or hold back malignancies of many kinds.  In these past weeks, I have taken care of several patients who are Jehovah Witnesses, an experience that has been quite interesting.

In most cases, what religion a person subscribes to has little to no impact on their clinical outcome.  We have an exception, however, when it comes to a Jehovah’s Witness with cancer.  JHW patients to a rule will not accept blood products of any kind, which greatly limits their ability to be effectively treated for cancer.  In some cases they cannot have surgery because the surgery they need is unsafe without the possibility of blood transfusion.  In some cases they cannot take chemotherapy because blood transfusion is required to survive the associated myelosuppression.  As surgery and chemotherapy are our two best treatments, they are at a major disadvantage.

When I was a resident, I had a pretty hard opinion about this.  I heard a lot of different view on the topic, but the position of one of my attendings resonated best with me.  He felt that his job as a physician was to protect the health of his patients, and that if a JHW was dying in front of him he was going to transfuse them whether they liked it or not.  He was quite clear about this upfront, and told JHW patients that if they were not happy about this they should find another doctor.  He even arranged for attending coverage for emergent issues if need be.  He felt that the preventable death of a patient was an emotional trauma he didn’t want to be exposed to, almost as if the patient, through refusal of blood, was exposing him to unnecessary emotional violence.  While this was a very hard line, I respected the boldness of  it, and that he was being true to his internal values.  I held a similar feeling for the first few years of my attendinghood, though I never had to test it until my third year out of residency.

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Academic OB/GYN Answers – CA125 screening for a child with a family history of ovarian cancer?

November 2, 2009 2 comments

Our first reader question –

“A patient of mine had ovarian cancer, she’s brought her 13 year old in for a consultation regarding various issues of irregular menses. ….how soon we should start getting CA125s…. Have an answer/opinion for exactly how young to start?”

That’s a great question!

First, there is probably not a definitive answer.  Screening for ovarian cancer is clearly an area where we do not have good answers.  I think a clear part of this question is actually whether or not the patient should be screened at all.  Patients think that there should be a good screening for ovarian cancer, but based on current literature and practice, I don’t think there is any method for screening this patient that is effective.

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