In Which I Learn To Stop Worrying And Love The Gene

Last Friday I paid a long-awaited visit to Dana-Farber to consult with them about genetic testing. My aunt, who six or seven years ago tested positive for the genetic mutation associated with breast cancer, has been encouraging me to get the test done for a few years now. So, though I am ashamed to say it, I made the appointment less out of my own desire to find out whether I have this mutation and more to make her drop the subject.

I have never wanted to get this testing done. My aunt first brought it up in 2004 when I was 18 - a ridiculously young age to do such a test - and I sort of resented her doing so. I was just about to begin college and the last thing I wanted to worry about was whether my body was a ticking time bomb. Now that I'm 23 I still don't want the testing done, but I figured there's no harm in arming oneself with a little knowledge, so I took the day off work on Friday and got on a bus for Dana-Farber.

I arrived late because it seems to be a rule with the MBTA that if you need to be somewhere at a specific time, they need to be at least 10 minutes behind schedule. The first thing they did (after I filled out the requisite paperwork) was slap a hospital bracelet on me, explaining that while in the hospital, all patients had to wear bracelets. In addition to my name and date of birth, I noticed that the bracelet had a barcode on it. I wondered whether, if they didn't want to talk to me or take the time to read the bracelet, they would just scan the barcode and get the information that way. They didn't.

I was scheduled to meet with two people that day; a genetic counselor and a doctor. First was the genetic counselor, and when she appeared in the waiting room to get me, I thought she must have been there simply to transfer me to someone else because she seemed unreasonably young for someone in this line of work. She couldn't have been more than five or six years older than me but she was, indeed, the genetic counselor. The first thing she did was make a family tree. She asked me about every member of my family on both sides, about their ages and whether they had ever been sick. Then, in simplified but not condescending terms, she explained the situation to me. She said that two genes discovered in the 1990s, called BRCA1 and BRCA2, are responsible for preventing breast cells from becoming cancerous. If one (or both) of those genes are mutated, the risk of developing breast cancer goes up. Because of my family's history of breast cancer, there's a 50% chance that I inherited the mutation of one of these genes.

She also explained what such a diagnosis would mean. Having the mutation doesn't mean you'll get cancer, only that they'll have to monitor you more closely for it. So once every six months or a year you have to get a mammogram and MRI to rule out the existence of a tumor. If you're tested for the mutation and don't have it, you don't have to go through the screening. But if you're at high risk (like me) and choose not to find out whether you have the mutation, you have to have the screening done anyway for the sake of caution. So the question, for me, was whether I wanted to know for sure if I have the mutation or not. When I was finished talking to her, I was confident that I wasn't ready to know, and she told me that was OK. I could have the screenings done and if down the road I decided I wanted to be tested, I could.

I felt pretty good after talking with the genetic counselor. I had felt a little abnormal for not wanting to get it over with and find out whether I carry the mutation, but she assured me that there was nothing wrong with that. It was reassuring that she seemed to understand and support the decision I was making. So I went on to the meeting with the doctor feeling pretty positive about things. The doctor was a Jewish woman in her late forties or early fifties and she entered the room followed by a medical student with acne and a bored look on his face. I was not thrilled about having him there, but I had just signed the form giving my consent for his presence, so I didn't want to throw him out just yet.

Things started off well. She asked me where I had gone to school, what I majored in. What I'm doing right now, my future career goals. The usual. But apparently Doctor and Genetic Counselor don't talk to each other much, because as soon as she was finished with the pleasantries, Doctor dove right into the same information I had just been given by Genetic Counselor - only she gave it to me like I was eight years old.

"Did you take biology in college?" she asked.

"No. You'll have to start from the beginning with me," I joked. She didn't laugh.

"Basically, you can think of genes as a book of instructions. They tell our bodies what color our hair and eyes should be, how tall we'll be, things like that. Each gene is like a page in the book, but if one page is ragged and torn, that's what we call a mutation."

OK, I thought, I may not have taken college-level biology, but I did somehow make it through high school, so you don't have to talk to me like I'm a child. I was beginning not to like Doctor, and I didn't really fancy sitting through the whole "this is what genes are" spiel dumbed down with the book metaphor (because I was an English major, and saying genes are like books makes them into something familiar!)

When she was finished explaining genes, Doctor then basically told me that I would be a fool not to get the testing done and find out, once-and-for-all, whether one of the pages in my instruction book was all torn up. As calmly as I could, I told her that I understood the ramifications of not having the test done, but that I had firmly decided that at this point in my life, I had decided to do just that. She told me I could always change my mind when I got tired of going through the screening every six months.

Doctor did somewhat redeem herself, though. During the physical examination (before which I had given Disgruntled Medical Student his dismissal), she engaged me in conversation about the closing of the Rose Art Museum. Afterwards, whilst encouraging me to take part in a study, she called me Miss A---, and being the lover of things 19th-century-related that I am, I was tickled by her use of the honorific. I wasn't thoroughly pleased with her, but if I were to give her a grade, it would be a B- or a B. So she passed.

While there is a 50% chance that I carry the genetic mutation that has caused so much carnage in my family, for now I am at peace with those odds, not-so-great as they are. It's really very simple: I either have the mutation or I don't, and if I do have it, I've had it since birth. There is nothing that could have been done to prevent it, if indeed it exists. Someday I may want to find out for sure. But not right now.