Take that money (and those genes) to the bank

penny2A couple weeks ago, I called my health insurance company because I finally got the EOB (explanation of benefits) for the genetic test I had back in December. The total amount billed to insurance by the medical center was more than $5,000. Of that total, the insurance company paid a bit less than half.

Before I had the test done, the genetic counselor told me that the company doing the test — Ambry Genetics, one of the companies I could choose from depending on which version of the test I selected — would call me to authorize any out-of-my-pocket cost above $100. As I never got a call from Ambry, I assumed that $100 was the most I would have to pay. Not a bad price if it bought some peace of mind.

(Note: Your mileage may vary. Insurance companies do not always cover genetic testing; they usually require a definite indication of a genetic risk because of personal or family health history.)

But here’s the truth of it. My out-of-pocket cost was – nothing.


Not even one bright, shiny, Lincoln penny.

According to the insurance company, by law, the testing company cannot bill me. So even the $100 I was expecting to pay remains in the bank. And that’s good news.

The other good banking news appears in this paragraph on the report of my test results:

“If you have a personal history of cancer, you may wish to pursue DNA banking. DNA banking involves providing a DNA sample to a facility who will store it for a set period of time. Since it is always more informative to perform genetic testing on someone who has been diagnosed with cancer, DNA banking helps ensure that your DNA sample would be available to your family members, should additional genetic testing options become available in the future.”

This was the first I’d heard of DNA banking.  But as this chart shows, the list of gene mutations – and the related cancer syndromes – that can be tested for is lengthy and ever-changing (note the recent additions in red). As the field of genetics grows, allowing us to track our individual health inheritance, so grows the need to compile and update the genetic formulas that affect us.

The various cancer-related DNA banks scattered in research facilities around the country DNAhave been collecting data on cancer genetics for a while. As is too often true with technology, however, there’s a compatibility issue that impedes researchers who want to collect, access, and compare information in their study of cancer.

But now, the National Cancer Institute has launched a project they call the Genomic Data Commons. Researchers in this project are collecting, standardizing, and streamlining access to these data sets from cancer patients across the country. The project is part of President Obama’s National Cancer Moonshot, spearheaded by Vice President Joe Biden, whose son died of cancer. So far, the data collected equals 4.1 petabytes (petabytes!) of information (1 petabyte = 1 million gigabytes).

Whether it’s about the money or genes in the bank, the situation for those of us affected by cancer grows a little brighter.

And the Answer Is In

The phone rang promptly at 8 a.m. this morning and, still clad in my pajamas and robe, I noted the caller ID on the screen and knew the answer I’d been waiting for was on the other end of the line.

I let the phone ring a third time so I could acknowledge the moment I was in.  The next moment, when I picked up the phone, would change my future one way or the other.

Mercifully, the answer I got from the genetic counselor was the one I’d been hoping for.

Of the 17 genes tested from my blood sample, none showed a mutation related to breast cancer.  Not BRCA 1 or 2, not PALB2, not BRIP1, nor any of the remaining genes, too many to be named here, that increase the risk.

If you saw me today, you might have said that I stood a little straighter, breathed a little deeper, and felt a little lighter.  You often don’t realize how heavy a burden is until you can put it down.


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.

Forget the Pink: The Real Cure is Prevention

Here it is again, October, which is designated breast cancer awareness month. This is the month when all is awash in pink.  At this point, plenty of bloggers have pointed out the hypocrisy and pitfalls of the “think pink” movement, so I leave it to them to continue to beat that drum.

Today, I’d like to present two sources that are helpful in understanding and combating breast cancer. The first is an interview on the NPR program “Fresh Air,” in which Terry Gross interviews Dr. Elisa Port. Maybe some of you have already heard this interview. I happened to catch it during drive time around town. Although Dr. Port doesn’t cover all the intricacies of the various types and treatments for breast cancer, she gives an up-to-date overview of the topic, including a good discussion of the current state of research and treatment related to genetic mutations. I found the interview helpful because it is grounded in the facts, not the myths and rumors, about breast cancer. You can find the interview here.

The second source appeared in my e-mailbox just this evening. I don’t know the fine details of the Rethink the Pink organization behind this website, but I was ever-so-glad to see the focus on prevention beyond the usual “diet-exercise” discussion. This site addresses the environmental factors related to breast cancer, specifically the chemicals in health and beauty products that have never been tested or specifically labeled as carcinogenic. Caveat: It does promote products, but with the purpose of giving alternatives to the usual chemical-laden products we find on store shelves. You can find the site here.

Enough of the pink parties. Let’s get serious about real prevention that offers effective alternatives and doesn’t make us feel guilty.

Ordinary Moments

About 6 years ago, I noticed changes in my breast that eventually led to a diagnosis of triple-negative breast cancer. Six years later, I am ever grateful for the simple fact that I am alive.

But over these past 6 years, I’ve been plagued by the idea that – having survived a potentially deadly disease — I should be doing greater things with my life. This idea, I suspect, is one of the unmentioned after-effects of cancer, promoted by all the smiling faces on survivorship posters, the Facebook people who post their travel photos, the TV ads that show active people feasting on the very air. Look at all those survivors  – starting foundations, running marathons, changing the way the world spins.

And here am I, doing the dishes, going to the grocery, taking the car in for repairs. These are the activities that occupy what seems to be an excessive percentage of my days. I don’t know how to start a foundation. What’s more, I don’t have the drive or energy to find out. I gave up running long ago, a casualty of laziness and sensitive joints. Sometimes, it’s all I can do just to put three somewhat healthy meals in my mouth in the course of a day.

Make no mistake: I have great faith and belief in the everyday work I do – teaching, writing, looking after my family – simply because I believe these activities are important, if only to me. (No one has ever accused me of lacking ego!) But always there is the nag in the back of my head who says: “Why aren’t you doing more with your life?”

It’s a never-ending trap, this idea that we should always be doing something more – that who we are and what we do is somehow never enough. The size of this trap expands exponentially once you’ve been seriously ill, the product of the idea that contemplating death imbues a life with greater meaning and therefore greater action. This trap can be as psychologically damaging as the illness itself because of the guilt attached: “I’ve survived, so surely I’m supposed to solve world hunger?”

And that’s why I’m glad to see a change in focus in the ads now broadcast by a nearby cancer treatment center. Finally, here’s an ad that dismantles the trap, that reflects the reality of most of us who survive treatment. We mow the lawn, we make toast, we sort the laundry. I don’t like the implication in this ad that cancer is now an everyday occurrence – a speed bump on the way to the grocery —  and I chafe at ads that pit a center’s survival rates in a marketing competition against others. But I am glad to see the expectations made realistic. Life after cancer is pretty much as it is beforehand — full of ordinary moments.

Must See TV

This short entry is to encourage those of you who are interested to watch the upcoming PBS special on cancer this week (March 30-April 1 — check your local listings for times). The 3-day, 6-hour special is produced by Ken Burns (that same Ken Burns who has documented the Civil War, baseball, and jazz) and is based on the Pulitzer-prize winning book (in 2010) The Emperor of All Maladies: A Biography of Cancer, by Siddhartha Mukherjee, M.D.  You can see a trailer and read a summary of the project on Burns’ website.

Given Burns’ previous work on the Civil War, it is fitting that he would take on the topic of cancer.  Although Richard Nixon initiated the “War on Cancer” in 1971, far too many of us know that war has not been won.

I purchased a copy of Mukherjee’s book about a year ago, but decided that I would postpone reading it, for a couple of reasons.  It’s a big book — approaching 500 pages — and includes descriptions of the science and research involved with this disease, from the earliest records of its appearance in ancient Egypt to the present day. In other words, it’s not light reading.

But it is well worth reading for a better understanding of what the disease is, why it has been so hard to eradicate, and why, unfortunately, we may never be able to do so. The more we know about cancer, the more there is to know.  And although some cancers are now curable, many are not, largely because each instance of cancer is a unique illness in a unique host.

Even if you haven’t been affected by cancer, the book is worth reading for a larger understanding of a disease that is projected by the World Health Organization to increase drastically in coming years. If you’re not currently affected by cancer in some way, there’s a good chance that you eventually will be.  And though cancer once used to be considered a disease of aging, greater and greater numbers of younger people are affected by it.

The other reason I held off reading the book was my own lingering fear of the disease. To read about a topic does not mean that you will be affected by it, but too much of our talk about cancer is still fraught with fear and superstition. I had to get past that magical 5-year mark of survival before I could set aside enough of the fear to read.

If you’re not inclined to read the book, but are interested in the topic, take the shortcut.  Watch the film.

Five years on: What does survival mean?

December 31, 2014, was not just the last day of last year. For me, it was a significant point in my cancer journey – that landmark day that marks 5 years since the end of chemotherapy, the point at which my oncologist started the survivorship clock.

Those 5 years have brought me from a place of terror to one, I hope, of realistic adjustment to the idea that I won’t live forever and that, regardless of appearances, the only real control I have over my life is within my small realm of influence – what I choose to do or not do. I still think about having had cancer every day, sometimes throughout the day, but these thoughts echo from the back of my mind; they rarely take a position in the front.

I still occasionally wonder what I did to bring on the disease, though a recent study suggests what I’ve ultimately come to believe — that in many cases, cancer develops simply as a matter of “bad luck.” Still, although I’ve changed habits that might have led to my developing cancer, I can be prone to that same panic I felt at my initial diagnosis when some new pain shows up.

Why do the cancer gurus set the critical point to determine survival at 5 years and not some other time? After all, I know a few people who were given a clean bill of health at the 5-year mark, but later were taken from us by a recurrence of the very cancer they thought had been conquered.

Here’s what the Mayo Clinic has to say about those 5-year survival statistics, which clarifies the factors influencing survival about as much as they can be. If you want even more details, especially about those long tails in the survival curves, take a look here. And as noted in this chain of posts, lots of factors influence the choice of a 5-year time point for analyzing survival.

Whatever the reason, it’s a date to acknowledge. In my own case of triple negative breast cancer, the more critical time point seems to be 2 to 3 years after diagnosis when (statistically speaking) the cancer is more likely to recur. Although I passed that mark a while ago, the 5-year point is equally important. Besides being the cut-off for the data, this is the point when oncologists tend to turn the care of cancer patients back to their primary care doctor. So the 5-year time point also marks the end of a long-term relationship with the doctor who served as a guide and security blanket during a harrowing time of life.

Besides the legion of thoughts about survival, my diagnosis of cancer left me with the feeling that I should be doing greater things with my life — establishing a non-profit foundation, for instance, or helping to solve world hunger. But here I am, going about my days much as I did before – getting the kids to and from school, teaching writing classes, walking the dog (sometimes).

Outwardly, my life looks very much like it did before my diagnosis, and even my hair has returned to its normal state (albeit with a few more gray hairs). Inwardly, the course of my thoughts is very different. I worry more about possible health risks for my family, yes, but I am also better at recognizing the value of my work, my relationships, and even the boring minutes of the day.

In his book Man’s Search for Meaning, Viktor Frankl notes that “What matters, therefore, is not the meaning of life in general but rather the specific meaning of a person’s life at a given moment . . . Man does not simply exist but always decides what his existence will be, what he will become in the next moment.” In other words, I can decide that, at this moment, what I’m doing has meaning simply because I have decided that it is meaningful. I may not be in a position to solve world hunger, but I can do what I can where I am.