Access to BRCA testing – yes, we’re ready

Mary-Claire King, Lasker Prize cancer researcher

Written by KJ Surkan.  Professor Surkan is a trans-identified breast cancer survivor with a BRCA1 mutation and a PhD in English. Dr. Surkan is a proud member of Flat and Fabulous and teaches women’s and gender studies at MIT, Temple University, and Swarthmore College.

When I first heard that Lasker award winner and geneticist Mary-Claire King had released a recommendation for population-based screening of women for mutations in BRCA1 or BRCA2 genes, I was ecstatic. King’s discovery of BRCA1 as a gene significant in the prevention of breast cancer has saved my life, and has the potential to save many more through universal testing.

Imagine my surprise, then, to see how much resistance and backlash has arisen in response to the simple suggestion that American women 30 or older be tested for deleterious mutations in BRCA1 and BRCA2, which confer extremely elevated risks of developing breast and ovarian cancers.  Apparently America is “not ready” for genetic testing that has the potential to inform the 250,000 to 415,000 women who unknowingly carry this mutation that they are at high risk.

Because, after all, it is much better for women to be protected from bad news than to give them a chance to survive.

I’m stunned, yet I know I should not be surprised. There is a long history of paternalism in doctor-patient relations, rooted in gender dynamics between male physicians and female patients that feminist scholars have traced back at least to the 19th century in the treatment of hysteria and neurasthenia, a condition diagnosed almost exclusively in women. Dr. Weir Mitchell, famous for treating female hysterics with a form of torture known as the “rest cure,” wrote in Doctor and Patient in 1901:

“Wise women choose their doctors and trust them. The wisest ask the fewest questions. The terrible patients are nervous women with long memories, who question much where answers are difficult, and who put together one’s answers from time to time and torment themselves and the physician with the apparent inconsistencies they detect.”

Mary-Claire King

How is it possible that over a hundred years later, women are still thought to be incapable of making valid decisions about their own health? Among the worries expressed about universal BRCA genetic testing are that it will lead to widespread and unnecessary mastectomies, that those testing negative will falsely assume they can’t get breast cancer, that the cost will be prohibitive, and that it will overwhelm genetic counselors and the current healthcare system.

It is unbelievably paternalistic to assume that women as a population are so weak-minded that they will unthinkingly rush to surgery. Women do not take the decision to have prophylactic surgery lightly. This is gatekeeping at its worst. Even if those who test positive do opt for surgery (not all do), isn’t that their right? Why are we freaking out over allowing people to know their genetic status? And how would we ever get more reliable data about which variants confer the most risk if we do not test and track more people in longitudinal studies?

This is about patient access to information.  Genetic testing for BRCA mutations is basic harm reduction. To restrict access is to knowingly sacrifice women to breast cancer, particularly in families in which mutations are inherited through paternal carriers. My family is one of those, a non-Jewish family in which the mutation was passed through my father’s side with no history of breast cancer, only to slam the next generation with breast cancer in all the female carriers with absolutely no warning. We had no idea that we were programmed to get breast cancer.

If my family had access to testing earlier, perhaps my sister would not have become the canary in the coal mine in her early 30s. Only because of her cancer was I tested, and only because I tested positive for BRCA1 did I begin MRI surveillance, which detected my invasive breast cancer at the earliest stage possible. I have King to thank for my ability to avoid chemotherapy and radiation, if not early death.

The cost of genetic testing is dropping fast; the cost of cancer treatment is rising. Earlier knowledge would mean having more choices, and less costly ones, overall. With computer processing speeds getting faster and faster, the price of testing will inevitably continue to decrease. But every day we delay is another day of inaction by BRCA mutation carriers who have absolutely no idea they are walking time bombs. At a minimum these people need heightened surveillance. At what price point does it no longer become reasonable to throw BRCA positive women under the bus in the name of cost savings?

And what of the claim that women won’t understand the meaning of the test, that those who test negative will stop getting mammograms and preventative screening?  Gatekeeping is not the solution.  Rather, let’s focus on getting genetic counseling to scale to more patients.  We can build education tools into the testing process for patients to make informed decisions.  And the future is already here.  Today we are already living in a different medical world, and it sells everyone short to think that we can’t wrap our minds around new technology. Genetic literacy will improve just as computer literacy improved back in the eighties and nineties.

Finally, please stop confusing universal testing with mandatory testing.  Dr. King didn’t write her perspective expecting that we were all going to test every woman for BRCA tomorrow.  In fact, universal screening generally is not mandatory. By calling for universal screening, we are saying that any woman over 30 who wants genetic testing for mutations leading to heightened risk for breast cancer should have that available to her. We have universal prenatal testing for PKU though only a small number will test positive, because it is a condition for which something can be done. And something can be done for those testing BRCA positive as well; with knowledge comes the possibility of prevention, the ability to avert the tragedy of suffering and untimely death that has struck so many of these families.

The “not ready yet” rhetoric has been deployed over and over again in reference to women and technology, and in response to women’s demand for equality in general: at various points in history women have been not ready to drive, not ready to vote, not ready to work, not ready to compete in athletics – yet ultimately they have done all of these things, and done them well. What are we waiting for, exactly?  It’s time to give women access to testing – and to let people make their own personal choices.  Let’s get to work on pilot studies, and fix the underlying problems with our medical system in order to make Dr. King’s recommendation a reality.

we-can-do-it

This post is dedicated to the memory of Barbie Ritzco, who also did not know of her BRCA status prior to diagnosis with breast cancer.  She passed away on Friday September 26th, 2014.  

4 Comments

  1. Love this post! My post on this topic is coming later this week, but you said everything perfectly! I actually had someone say to me, “No, of course I don’t support this, we cannot make women be tested.” So yes, it’s very important to emphasize that this would not be mandatory, but a choice. If I had had this choice when I was thirty, I would be sitting in a very different ‘place’ today. Thank you for your intelligently thought-out words. Well said.

  2. I like how you historicize King’s recommendation here in terms of the history of paternalistic medicine. When BRCA mutations were first discovered in the early 1990s, there was a lot of male hysteria that women might learn they had a BRCA mutation and start aborting fetuses left and right (for instance, from science writer Kevin Davies and NIH director Francis Collins, of all people). It never happened. Patriarchal medicine does not trust women to make good decisions about their health and seeks to limit women’s knowledge about their own bodies–that’s just business as usual. What’s more surprising to me than such backlash from the greater medical establishment is how many women seem to have bought into these ideas themselves.

    I’m starting to think this whole controversy is much ado about nothing. Genetic testing is moving faster than patriarchal medicine can control. I predict that BRCA testing will be widely available within the next ten years, if not sooner, despite all this pearl clutching.

  3. Thank you – this post benefitted from lots of input from others, and great editing (thanks Andrea!). I feel a lot of urgency about this issue because lives really do hang in the balance. In the long run, the sooner we stop dragging our feet on this and actually collect real data, the more likely it is we will learn vital information about precisely how these different mutations function and what can be done to stop cancer growth or prevent its occurrence in the first place. I really want that for my children.

  4. I’ve read and re-read this posting several times now before making these comments.

    I was first going to comment on the paternalistic claim. I’m not convinced it is as bad as you claim (that women and women alone are unable to understand), but not being a woman myself, I can certainly entertain the idea that I am wrong. Perhaps my own experience with many very capable women makes the notion that women are incapable just pure nonsense. I just assume that everyone is capable until they prove themselves otherwise.

    All this BRCA and breast cancer talk is really quite ironic, though. As a man, with a BRCA2 defect, and mutation-caused pancreatic cancer, I feel very much on the outside looking in at all this BRCA breast and ovarian cancer talk. I have an uncle with bladder and prostate cancer (both BRCA2 implicated). My grandfather died of colon cancer (also BRCA2 implicated). My aunt died of ovarian cancer (again, BRCA2). I got pancreatic cancer (also BRCA2). My extended family does not have a single incidence of breast cancer.

    What to do? Well, I take advantage of the BRCA breast cancer research and apply it to my family’s situation. I am not going to change the direction that BRCA breast cancer is taking to include these other (less often) cancers.

    I do respectfully say that you may have missed an opportunity to highlight the assistance that this increased screening might benefit others (even males) with BRCA-related cancer. The knowledge that there is a BRCA defect in the family can bring attention to increased screening of all family members for BRCA-related cancers. My aunt with ovarian cancer was the first in our family to be screened and find the BRCA2 mutation. This knowledge enabled me to get the right treatment for my BRCA2-caused pancreatic cancer.

    Please cast the net wider to cover more than breast cancer!

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