My Journey From DNA Test Skeptic to Participant

Not so many months ago, I wrote a post about the “Wild West Marketplace” of consumer genetic testing. That description came from Laura Hercher, a highly respected genetics counselor whom I interviewed for the piece. Though our focus primarily was on the entertainment aspect of consumer DNA testing (tracing one’s ancestry, etc.), we also discussed the more serious health implications. I find the topic fascinating, but I thought I’d leave it there. Hercher pointed out many of the flaws and potentially false results that these tests may yield.

Then events made me take a second look at the feasibility of genetic testing in my own life: my sister died of pancreatic cancer, only 43 days after she’d been diagnosed. (Despite our grief, in view of the horror of this disease, we all realized that the brief time period was a blessing). Knowing that my mother had had bilateral mastectomies for breast cancer, and that her mother had died in her 50s from what we thought was liver cancer but could have been a metastasis from breast or other site, I began to think about my likelihood of developing a heritable cancer. 

And—even more to the point—I thought about my daughters. My gynecologist had told me years ago that I owed it to my daughters to find out if I carried variants in the BRCA1 and/or BRCA2 genes, which are associated with cancers of the breast and ovaries and—it turns out—pancreas as well. At the time, genetic testing cost more than $5000, so I never followed up on her recommendation. It’s worth noting here that the preponderance of women who develop breast cancer have no known risk factors.

As a former health writer/editor and continuing catastrophizer, I immediately felt I needed more information about pancreatic cancer. The heritable component ranges from 5% to 10%. But I knew that unlike some cancers, which are now being regarded as chronic diseases, pancreatic cancer carries a prognosis that is usually dire. The American Cancer Society reports that pancreatic cancer accounts for about 3% of all cancers in the US—and about 7% of all cancer deaths. That high mortality rate is because it’s nearly always diagnosed late, after it has metastasized. 

But I wondered: if I tested positive for the pancreatic cancer variant, were there any monitoring programs that might make it possible to find the disease at an earlier stage? And were there medical genetic tests that were more reliable than some of the “consumer DNA” ones that Hercher had discussed?

My research led me to Johns Hopkins, one of the medical centers doing considerable work in this field, and they did, indeed, have a surveillance study for those who’d tested positive for heritable pancreatic cancer. Knowing that gave me a sense of control in the midst of my personal concerns and while my sadness at the sudden loss of my sister was still quite raw. The people I spoke with there suggested that I have heredity genetic cancer screening done—and they recommended as a reliable company Color Genomics.

I contacted Laura Hercher, told her about my sister’s death and my family history, and sought her advice. She and a friend/colleague who specializes in cancer counseling agreed that my family history of breast cancer merited testing and was more likely to be associated with a positive test result than the pancreatic cancer: “likelihood of a positive test result there is 10% times 1/2, since there is a 50% chance you share any gene your sister had—but I would say less than that because the cancer occurred over a certain age.”

But she also included a link to an article suggesting that every pancreatic cancer patient should consider genetic testing. Although she had been skeptical about pancreatic cancer screening because there’s no proven way to do it, this article suggested that screening may be effective for both patients and families.

However, she added a caveat: “Understand that our track record with screening for cancer is pretty dismal. Many things that sounded great on paper didn’t result in fewer deaths…but still worth considering.”

She recommended Color Genomics, the same company that Johns Hopkins had suggested, so I felt confident with those dual recommendations from trusted sources. I’m not suggesting they are the only reputable firm, of course.  A friend who works in cancer education for oncologists said she’d heard positive things about Invitae, and I’m sure there are others as well. 

I encourage anyone who is considering this action to do some research and talk with medical sources you trust.

I spoke with my physicians. My primary care physician was skeptical, asking me to think through what I’d do with the results. Both my gynecologist and gastroenterologist thought testing was a good idea in my circumstances and offered to write the medical requests necessary to get the test (more on this shortly). My gynecologist said that although many of her patients who test positive for these mutations opt to have their ovaries removed, if I chose not to do so, I could have half-yearly ultrasounds and Ca-125 blood work, which indicates the presence of cancer.

I also had intense interest in joining a pancreatic cancer surveillance study—for myself and my family, as well as to add to scientific understanding of the disease that took my sister’s life and is occurring with greater frequency.

But I had to think long and hard about my mental mindset. Which way would I worry more—if I had the test and received positive results, or if I didn’t have the test and was left to wonder? Of course, as Hercher had stressed in my interview with her, and we all should keep in mind: testing positive for a cancerous genetic mutation does not necessarily mean an individual will get that cancer, and testing negative doesn’t mean that individual won’t. We’re advancing our knowledge of genetics all the time, but so many other variables may play a role in specific cancers—diet, lifestyle issues, environmental aspects, and plain dumb luck among them. 

I also did some due diligence: checking resources from the American Cancer Society, the U.S. National Library of Medicine, and the National Cancer Institute. The latter carried this caveat about using Direct to Consumer (DTC) genetic tests:

“Even when people have DTC genetic tests for gene variants that are known to be associated with inherited cancer susceptibility syndromes, there are potential risks and drawbacks to the use of DTC testing. For instance, some DTC genetic tests look for variants in the BRCA1 and BRCA2 genes that are associated with Hereditary Breast and Ovarian Cancer Syndrome (HBOC). However, this testing looks only for three specific variants out of the thousands that have been identified. Therefore, someone could have a negative result with this kind of test but still have a harmful BRCA1 or BRCA2 gene variant that was just not identified by that test. In particular, without guidance about the most appropriate genetic testing to do and interpretation of the genetic test results from a knowledgeable health care provider, people may experience unneeded anxiety or false reassurance, or they may make important decisions about medical treatment or care based on incomplete information.”

This is an important reminder that if you opt for inherited cancer genetic testing, you must be cautious about the source you select.

Ultimately, I couldn’t get past the idea that if I didn’t get tested, I wasn’t doing everything I could to protect my daughters. What they did with the information would be their decision, but I felt I needed to get it for them.

I bought the Color Heredity Cancer Test from Amazon for less than $200. It tested for 30 known gene mutations associated with breast, ovarian, pancreatic, stomach, colorectal, and uterine cancers, and melanoma. 

Here’s where the doctor issue arose. My physicians were right that a doctor’s authorization was needed, though that information wasn’t provided on Amazon or on the Color site—until I registered to proceed. Then I was told that I needed my doctor’s approval. Color company representatives were accessible by phone and said that since I didn’t have that approval, one of their doctors would review my personal and family history and the final results at no extra fee.  I also knew a genetic counselor would be available for me to talk with once I received my results.

It was time to act. After reading the directions not to eat, drink (even water), smoke, or chew gum for 30 minutes before providing the saliva sample, I followed the three simple steps as described: 1) Activate your kit online; 2) Provide your saliva sample [tube included, and a clear video available to answer any questions]; 3) Return kit via the US Postal Service. 

I was promised results within four weeks. I then did an amazing thing for a catastrophizer: I put all thoughts of the test and its implications out of my mind and didn’t agonize at all.

Two weeks later, an email arrived informing me that my test results were attached. I felt fortunate that the timetable was earlier than stated: I didn’t have time to anticipate the arrival.

I took a few deep, cleansing breaths, relaxed my tense shoulders, and opened the email.

I had tested negative for all 30 genetic variants. 

I breathed deeply again—this time with considerable relief—read all the disclaimers (which I knew: results meant no guarantees one way or the other), and decided that I’d avail myself of the talk with the genetic counselor just to see whether there was additional information I could learn. 

The woman I spoke with said my findings “didn’t give us much insight.” There was a possibility, she said, that my mother had a genetic mutation that I didn’t inherit—or a gene that hasn’t yet been identified as playing a role in these diseases. 

And she observed that since new genetic information is becoming available all the time, it’s probably a good idea to be tested every two to five years. That recommendation struck me as having a bit of a marketing tinge. 

As far as I can see, I’m done now. I’m grateful for the results, which mean I won’t have to worry about what I might have passed along to my daughters in this regard. And I won’t need extra monitoring myself—or to enter into a pancreatic cancer surveillance program.

Time to remind myself of mindfulness meditation: not to regret the past or worry about the future—just savor the present, each and every minute of it.

How does all of this strike you? Aside from ancestry testing, if you know you have a family history of cancer, have you, would you, will you consider cancer heredity genetic testing for future medical issues?  If so, under what circumstances? (I certainly understand the thinking of those who choose not to know.)  Your insights, opinions, and stories are, as always, most welcome.

Annie