I am fascinated by physics, but wasn’t a very good physics student. Likewise, I have long been fascinated by genetics, but am not terribly good at the science that Gregor Mendel began in the mid-1800s by crossing pea strains in his monastery garden. When I was in school, those “who inherits what” Mendelian problems made my head hurt. I suppose that’s why I love being a journalist who writes about science and health and the environment. I get to interview all the people who were better at problem sets than I ever was. I get to wrestle with all those interesting ideas without the actual hard work of experiments and things like calculus and writing computer programs.
A young woman who probably never felt like throwing a chemistry or physics textbook across the room meets me in the usual fourth-floor waiting room at NYU. She’s a certified genetics counselor. As we walk out of the waiting area, she comments on how few people are sitting in the chairs. “Some days, it’s standing room only, and people are just freaking out,” she says. There are some advantages to getting cancer during summer vacation, apparently.
The genetics counselor is going to help me understand what I’m getting into if I agree to have my blood drawn and my DNA analyzed. I’m adopted. The only family member to whom I’m related genetically is my 9-year-old daughter. I know only the barest outlines of my genetic history: 3/4 Anglo-Saxon/Germanic, 1/4 Italian. I know I’m going to agree to the testing, but she has scheduled 90 minutes to explain everything to me and to find out what I do know about my background.
We go into a nice office. Are there any grungy utility closets in these world class cancer centers? I fill out a bunch of paperwork and sign several consent forms. She asks what I do know about my lineage: the above-outlined ethnicity, family history of diabetes and gout, biological mother has bi-polar disorder and has had throat cancer (probably brought on her smoking and alcoholism). She asks about my husband’s family. Cases of cancer? Heart disease? Any serious learning disabilities? Any birth defects? Any other serious illnesses? How is my husband’s health? My brother-in-law? Is my daughter OK?
Then she asks what she admits will sound like bizarre questions: Did I ever have blue-black freckles around my mouth that faded in adolescence? Do I have trouble finding hats that fit because my head is too big? (Occasionally, I may have been accused of having a big head, but not because my head was actually physically big.) Some more questions like that that I can’t remember. Apparently, they’re all markers of syndromes that can lead to gene changes, or mutations, that affect breast cancer.
Then, things get interesting, she starts to explain exactly what “genetic testing” means in the context of breast cancer. A lot of this I know from reporting various stories over the years and from doing a young adult book on genetic engineering, but it bears repeating:
The DNA in our bodies is a code with instructions for making proteins. Most everything in our bodies is made of different kinds of protein, skin protein, hair protein, liver protein etc. All the “how-to” code is written in four “nucleotides” which like to pair up in particular ways. A goes with B. C goes with D. These are called “base pairs.” It’s like computer code, only twice as complex because there are four variables instead of the two—1 and 0—upon which computers are based. There are 3 billion base pairs in each person’s DNA.
All this code for all these proteins is stored in our chromosomes, which are found in every cell of the 50-75 trillion cells that make up our bodies. Somehow, each cell knows which part of the code to use, and how to snip it off and copy it to make the proteins appropriate for its particular role, whether it be a giving oxygen a ride to where it’s needed like a blood cell or transmitting messages like a nerve cell.
Cancer is essentially proteins run amok. Cells stop going with the program. They start making whatever the heck they want, dividing willy-nilly. They ignore the orders set down by the chromosomes. The free-wheeling ways of the cancer cells mess up the functioning of all the law-abiding cells around them. If the cancer gets big enough, spreads enough, it starts taking up the room that should be left to the good cells. It’s not a good thing, obviously. It’ll kill ya if you don’t deal with it.
When you think of how complicated all this is, it’s amazing that our bodies work at all, that we all don’t end up with sixteen fingers or blue hair, or livers that think they’re lungs. I have a friend from church who became religious in the course of learning to be an anatomy illustrator; he’s now applying to med school. I think that’s a pretty reasonable reaction. My religion is probably more cerebral and abstract than faith-based. (I work on the faith part, like I worked on physics. Any priest or yogi would tell me that “working” on faith is kind of silly, but there it is.) I don’t believe in “intelligent design,” but still, our bodies really are a miracle. I believe in that, for sure.
Even more amazing than the fact that we breathe and walk and can do things like type out a blog, our bodies have the most amazing policing system on the planet. Really, the KGB, the Stasi and the Gestapo should have studied more biology. In addition to skin, and white blood cells, saliva, nasal mucus and many other things that trap or attack anything “foreign” like bacteria or pollen, the counselor explains that each cell has several “tumor suppressing” genes that stamp out free-thinking cells before they get too carried away with themselves.
Mutations in two of these genes seem to be very important in breast cancer: They’re called BRCA-1 and BRCA-2. Think of them as Thing 1 and Thing 2. Like the Cat in the Hat’s pals, if these genes get garbled, they wreak havoc. They mess up the housekeeping in your breast tissue. They pile things where they shouldn’t when your mother is out.
If you’ve got the gene changes that invite Thing 1 and Thing 2 into your biological household, you have a much higher chance of a recurring breast cancer (60 percent). You also have a higher risk of ovarian cancer (also 60 percent, I think). Ovarian cancer is very hard to diagnose and has a terrifyingly high mortality rate. My husband had a colleague who was diagnosed with ovarian cancer and died a month later. Basically, by the time you have symptoms from ovarian cancer, you might as well buy a ticket to Paris, drink a lot of wine and spend your last days in a blaze of cream sauces and cafe conversations and pastry.
Thing 1 and Thing 2 were isolated and discovered by a company in Salt Lake City, Utah called Myriad Laboratories. Myriad has a patent on these genes, and on the technology to isolate them, more on the morality/legality of that later. It will take 14 days for the results to come back. The reason it’s going to take two weeks to get my genetic testing results is that Myriad has a monopoly on the $3,000 test. My blood will go into a queue and they’ll do the best they can.
According to the American Cancer Society’s 2009 stats, 207,000 women will get invasive breast cancer each year. Another 54,000 will get “ductal carcinoma in situ,” or cancer that hasn’t spread yet. Lucky me, I have both. A significant percentage of us with breast cancer need genetic testing. That keeps Myriad busy, and has no doubt made it rich.
So what is the voodoo that Myriad does? The genetics counselor explains that they have a chemical marker that attaches only to the BRCA-1 and BRCA-2 genes. This marker then shows the lab where to chemically snip out the genes from the rest of my DNA. Then, the lab can replicate different lengths of the code, marking the end place of each partial section. Then they use a computer to analyze these strips of base pairs. This analysis will show whether my BRCA-1 and BRCA-2 are rule-following citizens or the rabblerousing Thing 1 and Thing 2. This means checking the order of approximately 5,000 base pairs in my DNA. See miracle, above. In addition to seeing whether my DNA has the Thing 1/2 changes, the counselor explains, there’s another test to just see if the BRCA genes have just gotten garbled. It costs “only” $700.
When you’ve got breast cancer, you’re not going to say no to something that will help explain what’s going on in your body. So, sure, I say, sign me up for the extra test. We’ll argue with the insurance company later. Better to ask for forgiveness than permission.
The counselor explains that sometimes the test is uncertain, or sometimes the test is negative. That doesn’t mean that, at some time in the future, it might not come back positive, she explains. Living with breast cancer means living with uncertainty, so I nod. I understand intellectually, emotionally, probably not.
We go downstairs to the round Cancer Institute lobby, what I’m beginning to call in my mind the “nightmare circle.” We pass some poor soul who looks like he’s in Stage 4 of something really bad. We go into the phlebotomy office. A nice man with a Caribbean lilt to his speech and a smooth way with a needle punctures the vein on the inside of my right elbow. He draws out a small vial’s worth of blood.
The genetics counselor shows me the bar code on the test order, and the bar code on the vial. She asks me to confirm that the bar code and my name are correct, and on both the form and the vial. She pushes the vial into a slit in foam padding inside a small cardboard box pre-addressed to Myrian Laboratories. She closes the box.
We part ways at the nightmare circle, and she disappears into the elevator with the box and my blood. News in fourteen days.