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.



I have started riffling through old family photos and framing them. I have a full shelf of dead family members arrayed in my living room. The men don’t interest me. I haven’t bothered to remember their names. It’s the women I want to see. After my deleterious genetic results, I became obsessed with tracing the mutation back through my family tree. Through a combination of blood tests and guesswork, I can follow it back four generations to my great-grandmother. According to family lore, she never developed cancer herself, but her sisters all did. She must have had my mutation.

I found her picture in a warped old photo album that my grandmother gave my father when she was dying of her third round of BRCA-related cancer. In it, my great-grandparents are standing in a field with broad smiles on their faces (“near the time of their marriage” my grandmother has written). My great-grandmother is wearing prim spectacles and a fox fur stole. She was a farm girl, so I wonder if that stole was a prized possession. I search her face for family resemblances, but I cannot find any trace of myself in her dark hair and eyes.

I emailed my oldest living relative, my grandmother’s brother, and asked him what he could recall of previous generations of family medical history. He tells me that my grandmother was a stubborn child who grew into a difficult woman. That my great-grandmother was as strong as a man and fond of proving it. That my great-great-grandmother was revered as a saint by her many children.

I want to know more about these women and their sisters, mothers, aunts, cousins. I want to know their medical histories, their feelings, their options, and their choices. I want to know if they realized that something was very wrong with our family and if they noticed the patterns of cancers strewn across the family tree. I have so many questions for them that can never be answered; I speak to the past, but it does not speak to me.

The genetic counselor tells me that I have a founders mutation. If I could, I would trace it back across the centuries. My great-grandmother and her sisters must have inherited it from either their mother or their father, but I don’t know which one of them was a carrier. I have pictures of them, my great-great-grandparents, and I have pictures of my great-great-grandfather’s parents, who were born well before the U.S. Civil War. I can’t know for sure which of them had the faulty gene. I want to trace it back just one more generation, but I realize that even if I could parse out where my great-grandmother got the mutation, then I would then want to follow it back still further.

I can’t fully explain this desperate desire to trace the mutation back through the family tree. It’s a visceral longing. My deleterious test results have made me feel profoundly connected to women who died decades before my birth, who could not imagine my existence or the mutation we all have shared. I carry their faulty genes, their missing alleles and misread chromosomes, in every cell in my body.

Looking at their pictures, I do not find my large eyes or pert nose, but across phenotypical difference and across the many years of births, marriages, and deaths, this piece of them has come down to me unadulterated. The odds were against it. If every one of us born of a parent with a mutation has a 50% chance of inheriting it, then that the genetic coin had to come up BRCA+ every single time to get to me. Thinking about these women makes me feel less alone.