THE BLOG
01/26/2015 02:36 pm ET Updated Dec 06, 2017

My BRCA Journey: Why Fear of Information Imperils Genetic Testing

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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.