I want BRCA1/2 testing available on demand and so does Mary-Claire King

Today NPR ran a segment on Mary-Claire King in which she argues for mass testing for BRCA1/2 in average women, similar to how I argued months ago that BRCA1/2 testing should be available on demand (that post here: I want BRCA1/2 testing available on demand).

But whereas I simply had reason and political rage to drive my argument, King has hardcore science with which to back up her argument. She and her colleagues have now shown that a woman without a history of breast cancer in her family is just as likely to have a BRCA mutation as a woman who does have a history of breast cancer in her family. More importantly, both women–those with and without family histories–have the same risk of developing breast and ovarian cancer. This is groundbreaking and a very good argument for widespread testing. 

The second woman NPR interviewed, Fran Visco of the National Breast Cancer Coalition, seems to think we shouldn’t do mass testing for BRCA1/2 because women might take the drastic action of needlessly having prophylactic surgeries. Really, it just sounded patronizing. NPR paraphrased her thusly: “Just because a woman has one of these mutations doesn’t mean she’ll definitely get cancer.” Really?! Who knew?! Thanks for the tip!

Some people make it sound like BRCA+ women are idiots who learn they have mutations and immediately run to back alley clinics to lop off their breasts with rusty cleavers. Choosing prophylactic mastectomy is a wee bit more complicated than that. And there are other options (as some women I know have chosen and been satisfied with).

I’m pretty embroiled in my corner of the breast cancer community–that is, I read around about breast cancer in general, but most of my time is devoted to the BRCA+ previvor/survivor corner of that community. But I’ve seen argument’s like Visco’s from women with breast cancer fairly often. It seems to pop up in every article on BRCA mutations these days. It makes me wonder if survivors in the larger breast cancer community still harbor skepticism towards prophylactic mastectomy, as was the trend in the 1990s (they rarely mention oophorectomy). Is that why King’s push for mass testing is meeting with skepticism from these quarters? Or is there resentment that previvors have forewarning that survivors didn’t have?

Very rarely do I see these kinds of arguments from BRCA+ women themselves. Even women who choose surveillance over surgery (like Linda Grier over at Elevated Risk) generally don’t disparage other women’s choices to have mastectomies.

(And yes, there are times when I do feel what Linda Grier (who sadly no longer blogs) has called “previvor’s guilt” that it took my aunt’s advanced breast cancer, mastectomy, chemo, radiation, lymphedema, and hard fight for genetic testing for our BRCA mutation to be uncovered. She has said that her cancer is a gift to the younger women in our family and to our female descendents, who now have the choice to take action. It is a gift, as well as a burden. And it isn’t fair to her, or my grandmother, or any other women with breast cancer who didn’t have the choices I have right now.)

I love the idea of mass testing–paired with genetic counseling, of course, and with the option for every woman to make an informed choice about whether or not to undergo testing. Some people just don’t want to know and we should respect those decisions, so long as they are informed decisions. And I love Mary-Claire King, who continues to kick serious ass.

I want BRCA1/2 testing available on demand.

90% of BRCA+ women don’t know that they carry a mutation and under the new preventive guidelines issued by the U.S. Preventive Services Task Force, many women will never know they’re BRCA+.

This kerfuffle brings to mind the recent 23andme debacle in which the FDA shut down direct-to-consumer testing by claiming that there was a chance of false positives that might led misinformed people to take drastic action. The example they used is that a woman using 23andme’s services might test positive for a BRCA mutation and then get an unnecessary prophylactic mastectomy. It’s a ridiculous example, since women can’t waltz into a surgeon’s office and cavalierly get a mastectomy. Doctors do not accept 23andme’s testing. In cases where women have tested positive for a BRCA mutation through 23andme, their doctors ordered genetic testing to confirm the results. There are many stories of this floating around the online BRCA+ community and no stories of false positives leading to unnecessarily prophylactic mastectomies.

I can’t help but notice how few women these new guidelines will actually serve. Just 10% of women will qualify for genetic testing. These women are deemed “high risk” because they have a number of close family members with breast or ovarian cancer. Under these guidelines, I would not have been tested for a BRCA mutation. I did not have a strong family of breast and ovarian cancer–or so I thought. Just a few years ago, I believed that there were only two cases of breast cancer on my father’s side of the family. Over the course of 15 years of annual gynecological visits and breast exams, my doctors repeatedly reassured me that these two cases were probably sporadic and that my risk was normal because breast cancer risk is inherited matrilineally. They were, obviously, wrong: breast cancer risk is inheritable patrilineally, as well as matrilineally.

Even if my doctors had been better informed, even if they had been aware that women can inherit their breast cancer risk from their fathers, they still would not have recommended BRCA testing for me under these new guidelines. As one doctor comments: “There is a very clear-cut algorithm for whether or not to test someone for a BRCA mutation […] Simply having breast cancer in the family is not sufficient.” Certainly, two cases of postmenopausal breast cancer in my family did not appear to present a pattern of hereditary cancer to my doctors. And yet, here I am, BRCA+.

All these years, I believed myself to be among the 90% of women with an “average” risk of breast cancer. I don’t think my former ignorance is unique. Women may not always know their family medical histories. This is particularly true of breast and ovarian cancer, which until the 1990s were considered shameful and inappropriate to talk about. The only reason I received genetic testing at all is because one of my father’s relatives fought hard to get herself tested despite the reluctance of her doctors, who dragged their feet for months. She tested positive for a mutation and so did I. It wasn’t until that point that I discovered my family’s extensive history of breast cancer and other BRCA-related cancers.

So now I’m wondering: if 90% of BRCA+ women don’t know they have a genetic mutation that puts them at risk, and if many women don’t know their family medical histories, then how are genetic counselors going to correctly identify that 10% of high risk women who should be tested? After all, to even talk to a genetic counselor, a woman needs to be referred by her doctors. And doctors are notoriously ignorant about BRCA+ issues (see Teri Smieja’s book on this). Still, the “USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for mutations in the BRCA1 or BRCA2 genes.”

Genetic testing for BRCA mutations should be widely offered and available on demand.

Here are some arguments against this (and why those reasons are stupid):

1. It doesn’t make sense to screen widely for a mutation that so few women actually have. BRCA+ women make up less than 1% of the population, but we already screen people for other rare diseases. For instance, only .66% percent of women get cervical cancer, yet we screen for that annually as soon as girls become sexually active. At the same time, 1% is a huge number of people when you consider that the population of the U.S. is over 300 million people.

2. It would cost too much. Many people have complained about the cost of genetic testing. However, now that Myriad’s patents have been invalidated by the Supreme Court, other genetic laboratories are now offering BRCA testing and this competition is driving the price of tests down. What’s more, BRCA testing is (usually) a one time event and that means a one time cost. If testing were available on demand, then insurance companies would have to cover it the way they cover cholesterol tests and pap smears.

Returning to the example of cervical cancer screening, surely it’s cheaper to test for a BRCA mutation once than it is to test all sexually active women and girls annually for cervical cancer. Nor is it cost-effective to do annual mammograms for women over 40, yet we still do even though it isn’t beneficial as BRCA testing. U.S. medicine is not cost-effective in general. That’s a genuine problem that needs to be solved, but in the meantime I doubt widely available BRCA testing would be the straw that broke the camel’s back.

3. Genetic testing should not be taken lightly and many women may not be ready to deal with deleterious results.  I don’t actually think that most women undertake genetic testing lightly and I doubt that most women would even do BRCA testing if it were offered by their doctors–a lot of people simply don’t want to know and that is a valid choice. Even if some small minority of women were to blithely rush into testing, you cannot protect people from their own stupidity. Nor can you deny well-informed women access to their data because of an infinitesimal number of idiots.

As for women not being ready to deal with the news that they are BRCA+: is anyone? It’s bad news, no matter how you parse it. This is why the profession of genetic counseling has emerged over the last two decades to help people deal with bad news about their genes. While I have had very bad experiences and would personally like to avoid it in the future (that’s a whole ‘nother post), freely available BRCA testing would still have to involve professional genetic counseling. And again, hand-wringing paternalism has no place in modern medicine.

The USPTF has “warned that unnecessary BRCA testing could potentially cause harm.” I don’t buy it. Now that we’ve won the skirmish over genetic patenting, “BRCA TESTING ON DEMAND!” should be the next BRCA+ battlecry.

On a related note, FORCE has identified some other problems with the new guidelines. Go sign their petition here.