Booby Traps: Pitfalls along the path of genetic testing and mastectomies

The first time I wrestled with the issue of whether to get my breasts cut off, I was in my early forties.  Partners in life, my breasts had done right by me. They delighted me in all their underwhelming adolescent glory. Then they'd been a source of panting, wriggling joy for so much of my adult life. They'd amazed me after pregnancy when I became a fount of Bessie-the-cow milk production. I could have fed a village -- or at least a day care. I'd learned to love and laugh about my breasts, like many motherhood-survivors, because when it comes to your own body, the first casualty of giving birth is your dignity. Post-weaning, the second casualty is your cup size. I'd even written about (and claimed) that frustrating and fascinating sagging that occurs with vintage breasts like mine.

But there was a good chance, like for Angelina Jolie, that mine could be harmed by "faulty" gene (See Booby Traps Part 2 and Part 3 for Dr. Gurley's whole journey).

Booby trap #1: When it comes to family history, how bad is bad enough?

The Affordable Care Act mandates that BRCA genetic testing be covered, when you have a higher risk of breast cancer. What is "higher"? That's actually a tough question to answer. There are many useful risk calculation tools out there (here and here are two). Plugging in what was known at the time of my own genetic testing, my estimated lifetime risks were between 17%-26%. Bad, sure, but that's a pretty big range, and, probably, a significant underestimate. Why?

First, my family in rural Georgia, like most of America, struggles with getting good consistent health care, as well as dealing with taboos around women's health. So when I tried to map out a sprawling family history, there were large numbers of women who had or even died of "female troubles." Where the heck does that go in a risk calculator?

Second, the current calculators don’t include the gamut of risk factors.  Most are focused on breast cancer, with some including ovarian cancer, which are the risks for BRCA1 genes. BRCA2, however, also increases your risk of melanoma and pancreatic cancer. I'd had a nasty early-stage mole taken off while in medical school, and my mother's mother died of pancreatic cancer. That's not in a calculator anywhere.

Since I'm a doctor, and was aware of these caveats, I was able to have a detailed discussion with my provider about my risks, and get my genetic testing covered. Many other people with my exact same family history, might be told theirs wasn't bad enough to qualify for the roughly $3,000 test.

Booby trap #2:   Are you ready to act if your test is bad?

Shouldn't we just screen everybody? There is an old medical rule-of-thumb: Don't get a test, if there's nothing you're going to do about the result. Is that true, though? After all, isn't a blood test just a blood test? Well, no. If you get a positive BRCA result, you can't ever erase that from your mind, your medical record, your family, or even your world view. Just knowing your results can shift the psychological foundations of your life.

I thought I knew my priorities when I had my BRCA test. Like Angelina Jolie, I had young children that needed me. They climb into your bed on a Saturday morning and knee your belly as they crawl across you with their stacks of books, demanding you to "read!" Silky little arms snake around your neck, claiming you, your love, your time. Young children are wonderfully, gloriously oblivious to your importance to them. Hell, if losing my breasts was what was necessary to avoid breast cancer, I figured I was "done" with my breasts. I decided to get genetic testing, and I told everyone who cared that if it came back positive, I'd have both my breasts removed. I thought I was ready for that.

I believe getting tested is an act of claiming your choices and your future. However, I am not a huge fan of home-based testing for lethal-type genes - unless it is the only option. Testing is a difficult process. The pivotal time of pondering, arranging the test, then waiting for results, oppresses with a stagnant emotional turmoil that seethes under the surface. A quicksand of fatalism can drag you so far down you find yourself unable to do the minimum-necessary to care for your health. Partners help. Trained health care support helps. I can't even begin to imagine having to walk a red carpet, facing the world of Internet trolls, as I grimly pushed ahead, day by day, carrying that burden while I waited for the results. 

And then results arrive…

Booby Trap #3: Beware of both optimism and pessimism when you're playing the numbers game.

In cost-effectiveness analyses, researchers try to put an exact number on how bad is bad. Human minds, however, balk at this concept. For example, if I told you there was a 2% chance you'd get breast cancer, you'd likely feel pretty good. If I said there was a 98% chance you'd never get breast cancer, you'd probably feel even better. But if I said you had a one in fifty chance of getting breast cancer - and to imagine yourself sitting in a room with 49 other people, waiting to see if your name would be called out as the one with the diagnosis, you'd be feeling pretty crummy. Yet all of those are the exact same risk.

When you get something rare, you get it 100%. Some of us probably looked at Angelina Jolie's estimated 87% risk of breast cancer and thought, well, it's not 100%. We can project ourselves into the 13% good result. Or we may freak and believe, in our heart of hearts that having the gene means we must already have cancer. Neither is true. So how can we live with this constant risk friction?

After looking at the numbers, I approach the issue in a more qualitative way. One option is the Worst Case Scenario approach. What is worse - having your breasts cut off, or having breast cancer? And, for many people, that answer is enough.

But sometimes you have to dig deeper, to ask questions such as: what if I cut off both my breasts, and I never got breast cancer, how would I feel? Or, what if I had my breasts cut off and I still got breast cancer - how would I feel? Or what if I chose to do nothing, never got breast cancer but lived my life in a state of perpetual fear?

This is an approach I call Drafting The Story. You are the protagonist-hero of your life and these are all drafts, of your story. Which narrative can you live with? Which one can you embrace? Angelina Jolie's statement that she felt "powerful" was authentic because she chose her narrative.

Sometimes, in health care, it's not the number-crunchers we need; it's the story-tellers.

Booby Trap #4: Watch out for when a good result can be a bad result.

So what were my test results? And what happened to my beloved breasts? Things didn't actually turn out how anyone would have expected.

First, I was BRCA negative.

The exploding relief that I felt should have been a warning sign that maybe I wasn't quite as ready to cut off my breasts as my hyper-logical, algorithmic brain tried to say I was. But I ignored that warning sign and let myself just revel in the joy - joy for myself and joy for my loved-ones.

Second, so what did this mean for me long term, and for all people with higher risks of breast cancer whose BRCA tests are negative? Is there a risk to having a negative result? Well, as in many aspects of medicine, this question is complex and controversial. Those two forces - complex and controversial - are also warning signs that we, as a health care system, are likely to give inconsistent, suboptimal health care. When I got my negative BRCA test results, I tumbled right into those gaps in care, only to crash-land with an invasive breast cancer diagnosis several years later.

What can you learn about health, statistics, and decision-making from my experience? Stay tuned for Booby Traps, Part 2: Human nature and the health care system.

Image by Army Medicine via Flickr

Please note that Doc Gurley cannot answer every question or respond to all unsolicited requests, and she cannot practice medicine through a keyboard (not even with her stethoscope pressed firmly against the monitor). Specifically, Doc Gurley cannot dispense medical advice via email - if you have health concerns you should see your doctor.

You can read more from Doc Gurley at  www.docgurley.com.