Decoding the Double-Helix

I’d be remiss in my quest for early detection if I didn’t use every avenue available to me. One of the newer ones (at least to me) is DNA testing. When I met Dana Donofree of AnaOno Intimates and she mentioned that she knew of a DNA study at the University of Pennsylvania that might match my background, I got excited. I knew that it might not tell me everything, but it might reveal something that mammograms and MRIs could not.

I reached out to the group and Dana was correct. It was a perfect match. They were going to test my DNA for 23 genes whose mutations are linked to a high breast cancer risk. My only cost was my time, gas, and tolls. (and they sold real Philly soft pretzels in the lobby of the hospital, so it was totally worth it)  

I filled out a large amount of paperwork about my family history. They wanted to know about births and deaths of grandparents, parents, aunts, uncles, siblings and children. They also asked detailed questions about my own health history. It felt like it went on forever, but it was worth it. I was accepted to the program.

It took 2 trips to the University of Pennsylvania Hospital in Philadelphia.The first was an initial counselling session and blood sample. The second was the results and a follow-up appointment with a doctor.

Being on the oncology wing of a hospital, once again, was difficult for me. I can’t help but think of my mom. I tried my best to ignore the fear and sadness that seemed to hang in the air. Instead, I concentrated on sending healing vibes to every woman in the waiting room. By participating in research I was going to keep more women out of this place, not just myself.

My first appointment was with Jessica Long, the genetics counselor. She took an extensive family history, which was mostly a repeat of the paperwork that I’d filled out. We talked about some things that couldn’t be put on a form, like memories of how myself and others had reacted to these family events.    

I felt the most important question was what I’d hoped to find out and how I thought it might influence my treatment in the future. I feel strongly that there’s a genetic link in my family (although I have no proof). My mom moved out of the house (and out of the state) when she was 21, so (I feel) it’s unlikely that it was environmental. If it’s a choice between amputation of my breasts and life, I choose life. However, the evidence would have to be compelling to take such a drastic step. I am not considering it now. If they found nothing, I would continue with the R.I.S.E. program at Memorial Sloan Kettering.

We also talked about family attitudes about DNA testing. My mother was reluctant, at first, to be tested. (My results would have more meaning if I knew her results.¹) It involved many long talks and a lot of education. They spoke with a genetic counselor and it help them to understand the process and the meaning of the outcome.  My mom then agreed to the test. According to Jessica, this is not uncommon. Although we can’t see our DNA, it’s very personal. I was relieved that my parents had come over to the “knowledge is power!” camp.

My first trip to Penn was full of interest and hope but I dreaded that return visit. (yes, of course I still got a pretzel. 2, in fact. One for breakfast and one for the drive back. Did you really have to ask?)  It felt like every other breast cancer screening test that I’d taken – this is going to be the “smoking gun” that tells me that I’m next.

Except, it wasn’t. I met with Dr. Susan Domchek, who was very nice and explained my results clearly. They found nothing significant. An added bonus was that they didn’t find any markers for ovarian or colon cancer, either. My family history was still the most significant factor. I asked the same question that I always ask “What can I do?” The reply was the same as my doctor from MSK: “Live a healthy life, in moderation, exercise and try to lower your stress.”  

They offered to follow up with me annually about any new DNA-related discoveries. I agreed that they could continue to study me, as long as they wanted. Even though I don’t know if we learned anything yet, I’m so glad that I did this and grateful to Dana for connecting me with the program. This data could be very important to my future.

If you have a family history associated with a specific illness, I highly recommend researching genetic testing. It’s possible that some spit or blood can provide any additional information to improve your health. Researchers are constantly finding new applications for this data. Someday it could reveal a path to prevention, or a cure.  The National Society of Genetic Counselors might be a good place to start to speak to someone near you.

¹A negative test result can be more difficult to understand than a positive result because what the result means depends in part on an individual’s family history of cancer and whether a BRCA1 or BRCA2 mutation has been identified in a blood relative.

If a close (first- or second-degree) relative of the tested person is known to carry a harmful BRCA1 or BRCA2 mutation, a negative test result is clear: it means that person does not carry the harmful mutation that is responsible for the familial cancer, and thus cannot pass it on to their children. Such a test result is called a true negative. A person with such a test result is currently thought to have the same risk of cancer as someone in the general population.

see https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet for more information.