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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5 Responses to “Waiting for a Phone Call”

  1. Kristie Says:

    I was dx with TNBC in 2012. Back then I was tested for BRCA 1 & 2, BART, and BARD even though only my maternal grandmother had cancer (breast). Tests came back negative. 2014 I decided to be tested for PALB2. Also came back negative. I have decided that until they can pinpoint the gentic strand that caused my TNBC, I won’t be going for any more tested.
    I suggest getting tested for BRCA 1 & 2, don’t worry about the rest.
    (((((Hugs))))))

  2. Julie Yamamoto Says:

    Kristie — It seems like we’re treading the same path, just a few years apart. My diagnosis was in 2009. Thanks for mentioning the names of the other genes — I wrote them down somewhere during the discussion with the counselor but can’t recall where I put the paper. I’m pleased that there’s more research on TNBC, but I agree that, until they can pin down the exact culprit (which is likely impossible), we can just make ourselves crazy with the testing. That’s why I didn’t opt for the full panel that would find things that go way beyond breast cancer. Too much information can be as harmful as too little. Thanks for reading!

  3. Lee Riggins Says:

    I understand. Waiting on a call, too. I will keep you in mind. Lee

    Sent from my iPhone

    >

  4. Julie Yamamoto Says:

    Lee — Thanks for reading. Let me know how your phone call turns out. I’ll keep you in mind as well.

  5. Dee Freeman Says:

    And the result of the call? Thinking about you. I assume that you are back home again?

    Sent from my iPad

    >


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