Notwithstanding that
some critics found it necessary to criticize from afar the wisdom of Angie's decision,
no one can dispute the courage it took to make it and to undergo this radical, life-altering px. And to then go public about it.
I, for one, wish her a full recovery and a long, healthy life to come.
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UPDATE:
Why Angelina Jolie’s ‘Medical Choice’ Is Likely Not Yours
SUNDAY UPDATE: GUEST CROSS POST
I've been enthusiastically reading Dr. Gurley's
columns in the Chronicle for years,
and was blessed to finally meet her at Health 2.0 SF last fall. She is
heroic in my eyes.
Dr. Gurley has agreed to serve as Chair of the now-assembling Clinical and Policy Advisory Board for my new project,
KHIT. Others include
Joe Fortuna, MD, Chair of the ASQ Health Care Division, and my former boss
Deb Huber, RN, MSHA, Executive Director,
HealthInsight Nevada and
HealtHIE Nevada HIE. Nomination of others welcomed.
Jan has graciously assented to a
linked cross-posting here.
From her blog, "Posts from an Insane Healthcare System".
Booby Traps: Pitfalls along the path of genetic testing and mastectomies
May 16th, 2013, Jan Gurley, MD
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.
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: Pitfalls of the mastectomy decision.
I eagerly await part 2, as should you.
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Doc Gurley speaking at Health 2.0: Refactored, May 13th, 2013.
Photo by BobbyG |
I have some observations to contribute regarding clinical assays and statistics. For now, a snip from a post of mine
a decade ago on a different topic. There are two principal camps among stats practitioners; the "
Frequentists" and the "
Bayesians."
Count me squarely in the latter encampment.
My core concerns:
- Sensitivity: the ability of an assay to indentify true positives;
- Specificity: the power of an assay to eliminate true negatives;
- Prevalence: the proportion of true positives in a population of interest;
- The upshot of error: the relative consequences of being wrong either way.
And, in addition to Lab QA (both intra- and inter), add to the foregoing what you might call the
"Empirical Moving Target" problem. Past may well be significant prologue in many cases (a fundamental necessity of the Bayesian paradigm), but not
inexorably.
ON ANALYTICAL "ACCURACY" AND "PRECISION"
From
my 1998 grad Thesis:
The terms “accuracy” and “precision” are not synonyms. The former refers to closeness of agreement with agreed-upon reference standards, while the latter has to do with the extent of variability in repeated measurements. One can be quite precise, and quite precisely wrong. Precision, in a sense, is a necessary but insufficient prerequisite for the demonstration of “accuracy.” Do you hit the “bull’s eye” red center of the target all the time, or are your shots scattered all over? Are they tightly clustered lower left (high precision, poor accuracy), or widely scattered lower left (poor precision, poor accuracy). In an analytical laboratory, the “accuracy” of production results cannot be directly determined; it is necessarily inferred from the results of quality control (“QC”) data. If the lab does not keep ongoing, meticulous (and expensive) QC records of the performance histories of all instruments and operators, determination of accuracy and precision is not possible.
I don't claim any expertise with respect to commercial genomic assays. Nonetheless, there are some basics that do in fact apply:
Processing DNA samples requires that humans collect and handle biological samples, which are then subjected to laboratory techniques run by human technicians. DNA testing is only as reliable as are the people overseeing each of these processes, and infallibility simply cannot be achieved. Therefore, forensic scientists must depend on quality control, retesting, troubleshooting, and transparency of every decision made in the process to achieve reliable, trustworthy forensic evidence every time.
Krimsky, Sheldon; Simoncelli, Tania (2010-06-01). Genetic Justice: DNA Data Banks, Criminal Investigations, and Civil Liberties (Kindle Locations 5646-5650). Columbia University Press. Kindle Edition.
apropos of all of the foregoing...
Sometimes, more medical information is a bad thing. The influential United States Preventive Services Task Force recommends against most women getting genetic screenings for their susceptibility to breast cancer. Why? Because the tests are imperfect: for every woman who gets tested for genes associated with onset breast cancer, even more will falsely test positive, leading spooked patients into needless surgery or psychological trauma. Super cheap genetic testing from enterprising health startups, such as 23andMe, have complicated cancer detection for us all by increasing the accessibility of imperfect medical information.
After discovering a mutated BRCA1 gene, known to increase breast cancer 60 to 80%, actress Angelina Jolie’s underwent a radical preventive double mastectomy. Her brave confession in the New York Times brought much needed attention to breast cancer awareness, but it’s dangerous in the hands of a statistically illiterate population...
Link to full article here.
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UPDATE:
"It took less than a day for various quacks to attack Angelina Jolie’s decision, as reasonable and science-based as it was, to undergo prophylactic bilateral mastectomies to prevent breast cancer."
I had been debating whether to blog about Angelina Jolie’s announcement last week in a New York Times editorial entitled My Medical Choice that she had undergone bilateral prophylactic mastectomy because she had been discovered to have a mutation in the BRCA1 gene that is associated with a very high risk of breast cancer. On the one hand, it is my area of expertise and was a big news story. On the other hand, it’s been nearly a week since she announced her decision, and the news story is no longer as topical as it was. Also, I’ve already written about it a couple of times on my not-so-super-secret other blog, making the division of blogging…problematic. So, if some of this is a bit repetitive to those who are also fans of my more—shall we say?—insolent persona, I apologize, but try to be patient. I will be doing more than just rehashing a couple of posts from last week (although there will unavoidably be at least a little of that), because there have been even more examples of reactions to Jolie’s announcement that provide what I like to consider “teachable moments.” I will start by asserting quite bluntly that in my medical opinion, from the information I have available, Angelina Jolie made a rational, science-based decision. How she went about the actual mechanics might have had some less than scientific glitches along the way (more about that later), but the basic decision to remove both of her breasts to prevent breast cancer associated with a BRCA1 mutation that she carried was quite reasonable and very defensible from a scientific standpoint...
SBM never disappoints.
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More to come...
