Waiting for a Phone Call

 

phoneNext Thursday morning, at precisely 8 a.m., I will find out the next step in my ongoing journey in Cancerland, a place you can never really leave once you arrive. That is the time I have set aside for a phone call from the genetic counselor I met with before Christmas. This will be the third conversation I’ve had with the counselor, but this is the critical one because it determines what I do next: fall back into the web of anxiety and ongoing medical procedures, or take one very deep, free breath.

My first conversation with the genetic counselor was about 5 years ago, after I completed treatment for breast cancer. My oncologist suggested that I consider getting a genetic test to determine whether the cancer I had was related to a mutation in either of the two most popular genes that cause it. (I say “most popular” because, as geneticists are discovering, there are other genes involved in breast cancer).

On the appointed day, I drove the 90 minutes up the freeway to the counselor’s office, where we reviewed every piece of family healthy history that I could recall –which relatives had died and which were still living, the cause of death of each deceased relative, and the health conditions in the relatives still alive. I did my best to remember every story, every shred of health information I’d picked up over the years of being part of this family.

Yes, there is my grandmother who had an undefined breast cancer around 1970 that eventually recurred and took her life about 12 years later. And yes, there are various other relatives who had cancer of various types:  colon, bone, and skin. But no other instances of breast cancer and none of ovarian cancer, the two telltale markers of a genetic propensity for people like me.

This recording of my extended family’s health history took quite a bit of time that day. One advantage of having a large (nominally Catholic) family is that you’ve got lots of opportunities to spot any patterns of illness, cancer or otherwise. Among my 4 siblings, 9 aunts and uncles, and 35 cousins, my family health map was pretty clear of signs of a genetic problem.  The counselor thought it was not likely I had the bad genes. And so, I decided then not to have the test.

The next conversation with the counselor was about 3 years ago, when I learned a close relative had also been diagnosed with breast cancer. I called to determine whether that occurrence increased the likelihood of my having the genetic flaw.  But the other relative had a different type of breast cancer, at a different stage of life, and had been on hormone replacement therapy. The counselor’s answer was, once again, “not likely.”

So, you may be wondering, why the third conversation? Why ask again when the odds seem ever in my favor?

Here’s why:

The research on breast cancer is constantly evolving, and there is more and more evidence that the type of cancer I had – triple negative – is driven by genetics more often than the “garden variety” hormone-related breast cancers. Oversimplified media reports imply that most breast cancers are related to gene flaws, which is simply not true.  Only 5% to 10% of hormone-positive breast cancers relate to genetic deficiencies, but the burgeoning research on triple negative cancer shows that as many as 15% of these cases relate to genetics. Though that number is far from a majority, the possibility is great enough to make testing reasonable.

The other factor is that Myriad Genetics, the company that initially developed the genetic test for BRCA1 and BRCA2, was forced to give up its patent on these genes in 2013. This ruling by the U.S. Supreme Court meant that other companies were free to develop genetic tests for breast cancer (and Myriad could no longer get away with charging several thousand dollars for the test).

So, when my oncologist once again suggested the genetic test at my checkup back in November, I decided I’d bite the proverbial bullet and get it done, if for no other reason than to find out whether my children would have anything to worry about.

The test itself is simple – they draw blood and send it off for analysis. The results, however, may not be so simple.

First, there’s a choice of which test to take:

  1. the one that checks for only BRCA 1 and 2
  2. the one that also looks for other genes implicated in breast/ovarian cancer (PALB2, BRIP 1, and another whose name I can’t recall)
  3. or the one that finds every genetic anomaly you have (as far as they can be currently identified)

In other words, the choice is this – how much anxiety do you want to introduce into your days?

In my situation, it no longer seems enough to look for just BRCA1 and 2. But I also don’t need to worry about a bunch of genes that might not be functioning properly but aren’t causing trouble and about which I can do nothing. So I chose the second option.

Ten more days to wait for a phone call.

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These Genes Don’t Fit

A section of DNA; the sequence of the plate-li...

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Last month, I decided to take the plunge and drive north to Seattle to speak with a genetic counselor to determine whether there’s any likelihood that I developed breast cancer as a result of a malfunction of my genes.

The current numbers from the experts say that only 5% to 10% of women who develop breast cancer have a family history that can be attributed to a genetic defect passed down through relatives (either male or female). So, despite what the various media might lead you to think, most women who develop breast cancer do not have a genetic defect, at least not one that we can yet identify.

Still, some of the recent research about triple-negative cancer raises the question of a greater likelihood of a genetic defect (most commonly a mutation of BRCA1), and so I again had to consider whether to sign up for genetic testing.  Both my oncologist and the naturopath said it was unlikely and they didn’t see the need to progress to testing, but then came a report from the New England Journal of Medicine, which charted a higher rate of genetic defects among those of us with triple-negative or basal types of breast cancer. Since I do have a son and a daughter, each of whom might be affected if I have such a mutation, I had to lay the issue to rest in my own mind.  (And as a couple of people put it to me, “The mutation has to start somewhere!”)

So I asked the oncologist to refer me to the counselor at the University of Washington, home of the highly regarded Fred Hutchinson Cancer Center, one of the foremost cancer research centers in the country.

And what I learned, once again, is that life is rarely a matter of a simple yes or no. Yes, genetic defects can play a role, but that role is much more complex that simply saying a defect exists or doesn’t.  Science is amazing in what it has uncovered about human life, but when it comes to issues like genetics, there are more unknowns than facts. Even my astute daughter figured out that, should I have a genetic mutation, her chance of developing breast cancer is only 50-50.  (And who says they don’t teach substance in schools these days?  She studied the basics of Mendelian genetics and chemotherapy in science last year.)

As I mentioned in earlier posts, I have the great benefit of coming from a large family – 8 aunts and uncles, 35 first cousins – and I know much of the history of the illnesses passed down among these relatives. With the exception of my maternal grandmother, there are absolutely no other cases of breast cancer in that extended family.  But that fact is not enough on its own to rule out a hereditary cause because some syndromes leading to breast cancer are associated, for example, with sarcomas and leukemia, or digestive and thyroid tumors. As this information from the American Cancer Society shows, the various risk factors and genetic influences — BRCA 1 and 2, ATM, p53, CHEK2, PTEN — are much too complex to pin down in any single case.

After carefully recording the details of medical problems in my extended family, the genetic counselor I spoke with determined that the chance of my having a genetic defect is only about 5%. That number doesn’t explain why I got the disease, but it goes a long way toward making me feel more optimistic for my children’s futures.

This is a set of genes I’m quite happy don’t fit.