Healthcare

My BRCA Journey: Why Fear of Information Imperils Genetic Testing

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(Photo copyright Radish Lab)

The world breaks down into two camps, my genetic counselor said: people who want information, and people who don’t. I’ve been writing about gene testing and genomics for a long time, but as I navigated my own recent journey in genetic testing, I learned why that divide will probably remain the biggest hurdle to achieving the promise of genomics.

In the past several months, it became clear there is likely a hereditary susceptibility to cancer in my family. The vast majority of cancer—estimated at 90 percent or more—is caused by sporadic changes that have nothing to do with family history. But in the other cases, cancer is linked to inherited genetic mutations. Based on advances in genomics in the past decade, it is now possible to check someone’s DNA for known variants associated with all sorts of hereditary cancer, from breast to colon to prostate and more.

That’s an amazing thing for families like mine, where the only alternative to testing would be anxiously watching relatives fall ill and wondering who’s next. So when a fairly rare and aggressive form of cancer known as triple-negative breast cancer began galloping through my family, I had an option that was available to no previous generation. I could find out if I had a genetic mutation that increased my risk. So I jumped to do it. Or tried to, anyway.

Despite the enthusiasm I hear regularly from genomics experts I talk to about the clinical power of genetic tests, getting my own medical professionals to order the genetic test for BRCA, the mutation linked to breast cancer, was a challenge. Most doctors I spoke to were hesitant to order a test when it wasn’t absolutely certain that the results would lead to a clear medical action. If the cancer in my family turned out not to be hereditary, they reasoned, the test’s information would not be useful anyway. But without getting tested, how would we find out if the cancer was hereditary? I reached out to a company that developed one of these tests to buy it directly, but for liability reasons the company requires an order from an external physician or genetic counselor. Eventually, I located a genetic counselor willing to order the test for me, though even she wasn’t convinced this was the best avenue. (She worried I might not learn as much as I wanted.)

Meanwhile, other family members were considering getting tested as well. One relative was deterred by doctors who seemed to suggest there was nothing she could do with the results if she did get tested, so why bother?

As I see it, those doctors come from the “Information? No, thanks” camp. It’s absurd that people who actively avoid information are the same ones who decide whether we can get access to our own information. There are people who don’t want to know what’s hidden in their genes, and that’s OK. But people should never be steered away from learning that information just because the medical establishment doesn’t know what to do with it. If I want the information, it should be my right to have it, and my own decision whether I can handle it. There’s a big difference between “I don’t want” and “you can’t have.”

I got my test result: no known cancer mutations found. But in my case, as the first member of my family to be tested, a negative result was actually inconclusive. It might mean that I was in the clear, but it might also mean that whatever my family’s mutation is hasn’t yet been discovered so it wouldn’t have shown up in a test anyway. My lone data point didn’t mean much. I needed context.

Genetic tests are now available for more than 4,000 diseases and disorders. That number will continue to grow rapidly in the next few years. But those tests cannot be implemented as widely as they should be with a medical community reluctant to order them. (That conclusion is supported by extensive surveys, not just by my own experience.) And patients who get inconclusive results like mine will be less likely to recommend genetic tests to their family and friends, tamping down consumer enthusiasm for this kind of information.

If medical professionals embraced DNA information as a tool to empower patients, we would see far more genetic testing. As a result, people would be more likely to go into the test with their context already in place: Aunt Sheryl and Cousin Sabrina both had a cancer mutation, so I should see if I have it too. Patients could always opt out if they felt that the information would be more burdensome than useful to them.

In the genomics community, we’re already there. Scientists have publicly called for screening all women for the genetic variants associated with breast cancer. That’s a sea change in how we think of genetic testing. But if other women have experiences like mine, encountering serious resistance from doctors, it’s a change that may never amount to anything.

In the months since I got my test result, a few of my relatives have gotten theirs too. It turns out that a known BRCA1 mutation has been lurking in our gene pool. The increased risk for some of my family members has been sobering, while my own negative result, suddenly made meaningful in context, was a relief. Contrary to doctors’ insistence that there was nothing we could do with this information, even my young cousins have begun getting mammograms, giving them the opportunity for years of aggressive screening that would never have been possible under traditional medical protocols.  I don’t know whether any of my relatives will choose to have a prophylactic mastectomy (like Angelina Jolie did) but at least they will be able to make the decision for themselves. Since the same genetic mutation also increases risk for ovarian and uterine cancer, they can be proactive about screening or even deciding to remove those organs if they choose. This knowledge has literally changed our lives.

The world breaks down into two camps: people who want information, and people who don’t. As genetic testing goes forward, it seems that the two camps will be pitted against each other. I don’t think that is acceptable. People who see value in their DNA data should be free to get it without having to resort to cajoling or badgering. That’s the only way all of us can realize the power of genetic testing.

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  • Amy Byer Shainman

    Hi Meredith,

    Thanks so much for this post. It is so important to share our stories and keep the conversation on genetic cancer risk going.

    When you speak in this piece of “a test” or getting your “test result” I simply want to add the following:

    Genetic counseling is essential in the genetic testing equation. There are many sooooo many gene mutations beyond BRCA; Li-Fraumeni Syndrome, Cowden’s Syndrome, Lynch Syndrome are some just to name a few. The genetic counselor has the knowledge base to decipher with expertise the next step for the patient–which very well could be nothing. But that is for them to decide. Primary care doctors are not routinely implementing or trained in evidence based decision making for genetic testing or counseling. Angelina Jolie “started the conversation” on BRCA and planted the seed which has allowed patients to bring concerns of a genetically inherited cancer risk to their doctors. The reality is that the genetics of cancer is evolving constantly and highly patient specific. Just like any other medical illness–a specialist, like a genetic counselor can evaluate a patient, determine their risk from the best available knowledge, and determine who should proceed to the next step of genetic testing. For a heart problem–you go to a cardiologist, for a nerve problem you go to a neurologist…why for a possible genetic defect would the need for a specialist be any different? I am not endorsing genetic testing for everyone. But I am endorsing genetic counseling to accurately assess a patient’s risk. Primary care doctors are not trained nor do they have the time to accurately assess a patient’s genetically linked risk for cancer. It is not their area of expertise.

    To find a genetic counselor go to http://www.nsgc.org or http://www.informeddna.com

    Warm Regards,
    Amy Byer Shainman @BRCAresponder
    The BRCA Responder
    BRCA/Hereditary Cancer Advocate
    BRCA 1 positive previvor

    • Meredith

      Hi Amy,

      Thanks for your comment! I had such a positive experience with my genetic counselor that I wholeheartedly support your recommendation. In my case, she expressed her concern that I might be disappointed by potential inconclusive results, but she left the decision about whether to get tested 100% to me. The counseling was an important part of the process and it’s great to get that kind of help before and after a test like this one.

      Best,
      Meredith

  • http://www.mightycasey.com/ MightyCasey

    LOVE THIS. One of the additional benefits is related to one of the current buzz phrases in healthcare – population health. DNA assays, with patient consent, can inform all sorts of early-warning heat maps. And also, you know, help people better manage their lives and their care options.

    Surprised/sorry to hear that finding a genetic counselor to work with was a project. That’s a teaching opportunity, one that I’ll add to my “epistles to the barbarians” content development work =)

  • bb

    Go read the articles about risk of radiation from mammograms in BRCA carriers before your young relatives start getting early mammograms. BRCA mutations are mutations in DNA repair proteins and some studies have indicated that mammograms (-radiation breaks DNA, which has a higher chance of being left unrepaired) increase risk of breast cancer in these women. Also, mammograms aren’t as informative in young women with dense breasts anyway. There are other ways to screen early. But doctors haven’t gotten the message about the risks for BRCA carriers from mammograms, so if a woman tests +, they start shipping her off for the mammogram – I’ve seen recommended as young as 25. The genetic testing companies don’t say too much about this yet – why not?? I haven’t followed the literature much of late – this was controversial before. So check into alternative screening methods (MRI, ultrasound) before running off to get your vulnerable boobs zapped.