Geneticist Mary-Claire King recently accepted the prestigious Laskar science award and during her acceptance speech, she surprised many by sharing her recommendation that genetic screening for brca1 and brca2 mutations should be made available to all women around age thirty as part of routine medical care. This would be an option, not mandatory.
Ever since I heard about Dr. King’s announcement, I’ve been trying to figure out where I stand on this issue. I have been reading with great interest many of the articles written after her stunning (to some) recommendation. At first I was torn, but after thinking more about it, I know where I stand.
I am with Dr. King on this one, with one hugely important caveat, which would be requiring that such testing be partnered with genetic counseling. Counseling would be an absolute must before testing, and after as well, if one tested positive. I’d also be in favor of offering the test way earlier than age thirty.
I say why not offer universal testing to women who want it?
What good does sitting on this kind of information do?
It reminds me of when a person is writing a research paper, but cannot complete it because she is missing a vital resource. Without the resource the paper goes unfinished or lacks a vital component. When a person is planning her life and making choices about her future medically speaking, but is missing an important piece of information that is available but hidden to her, is her plan truly complete?
These words of Dr. Mary-Claire King resonated with me on a very personal level:
Many women with mutations in these genes are identified as carriers only after their first cancer diagnosis because their family history of cancer was not sufficient to suggest genetic testing. To identify a woman as a carrier only after she develops cancer is a failure of cancer prevention.
Such was the case in my family, the history part I mean.
My mother was a brca2 mutation carrier, but we did not know this piece of information at the time of her diagnosis. If we had, things might have turned out differently for her. If we had, undoubtedly her course of treatment would have been different. My family history is complicated (whose isn’t?). There were not enough of those infamous red flags to warrant testing at the time of her diagnosis. We were missing an important piece to the puzzle. A piece we knew nothing about. That piece came later, but that’s a different post.
This is a basic premise and one reason why Dr. King made her recommendation. The red flags are sometimes not there in families with brca mutations buried in the DNA, families such as mine.
Obviously, my mother could not have been tested around age 30; this was not yet an option back then. It was not an option when I was thirty either. However, the science is here now, as is the testing option for young (as well as older) women.
Again, what good does sitting on this information do in regard to saving lives now?
One main reason I’ve read that’s been cited over and over again for not supporting universal testing is because it would be too complicated. To be sure there are yet to be answered questions about implementing this kind of universal testing option, however, is being too complicated really a good enough reason to not do it or to at least not set the wheels in motion? I imagine things would be chaotic in the beginning, but surely matters could be sorted out over time. Sometimes chaos forces solutions and the implementation of them.
Another big question is cost. Who would pay for all this testing? But wouldn’t cost plummet as demand continued to increase? Isn’t this already happening with more testing and more competition between testing companies?
The main factor I wish to address that has bothered me in many of these anti-universal brca testing articles is the fear factor. It’s been stated over and over that the option of universal testing would create undo fear resulting in women making fear-based decisions about prophylactic surgeries and other procedures.
I don’t buy that argument and, in fact, I find it rather condescending.
Women do not need others dictating what information they are capable of hearing, deciphering and handling. Women are perfectly capable of making sound decisions about their own bodies. Women are not fragile, fearful beings; nor do they need protection. Of course, the information given to them (and to men) would need to be accurate, complete and clearly presented.
Another concern I’ve read about is that if a woman tested negative, she’d assume herself to be in the clear (she would not be) and she might then believe she’d never get cancer (she still could). I presume the assumption some are making is such a woman might get a bit “reckless” concerning her health decisions. Again, women are smarter than that.
In addition, upon reading some of these articles opposing universal brca testing, one might think every woman who reaches age 30 would rush out to be tested. More than likely, this would not be the case. Testing is and would continue to be a personal decision and every woman would not choose to be tested. It also seems it’s too often assumed that most women who would test positive would subsequently rush to undergo prophylactic surgeries. Again, this is not likely to happen. Women do not just amputate their breasts or remove their ovaries and other body parts without putting considerable thought into such decisions. Active surveillance would continue to be a viable and chosen option for many women testing positive.
Need proof that not all women rush into this kind of thing?
After learning my mother was brca2+, I did not rush out to get tested. Like usual, I decided to take my time and think things through. I thought I had time. It turned out I didn’t. But the point is, I did not rush to test, nor did I rush to remove body parts.
In my case, I should have acted more fearfully.
The bottom line is I wish I had had an opportunity to be tested at age 30.
Undoubtedly, I would have thought about it for a few years, but more than likely I would have had the test, taken the proactive route and quite possibly avoided a cancer diagnosis.
Universal testing would make this a reality for more women.
I realize my personal examples are antedoctal in nature and I know fully well there would be problems with offering universal genetic testing for brca mutations.
But what are we waiting for?
This is the direction we are headed in is it not?
If we’re not ready, perhaps we better get ready.
Let’s get things rolling now. If it’s complicated, let’s start figuring out solutions. Let’s get the medical community on board. Let’s better train medical professionals across the board in genetic matters. At the very least, let’s keep this discussion moving forward.
Lives depend upon it.
Note: I do not address men being offered universal testing in this post because that is not part of Dr. King’s recommendation and her recommendation is what I am responding to and supporting in this particular piece.
Do you feel brca1 & 2 mutation testing should be available (as an option) to all women around age 30 – why or why not?
If available to you, would you choose it, or would you have chosen it?