Duke Magazine
by Barry Yeoman
The mapping of the human genome inspired not only a flood of scientific research, but also a flurry of commercial genetic tests aimed at the curious consumer. A Duke Magazine writer submitted his DNA and gained access to a trove of information that purported to reveal where his ancestors lived and his risk of becoming obese or developing arthritis or cancer.
Writer Barry Yeoman with dog, Scooter
Survey says: Genetic testing yielded unexpected results for both Yeoman and his dog, Scooter
Jared Lazarus

When we adopted Scooter in 2008, my partner and I were curious about the ancestry of our sleek five-month-old puppy. Clearly she was a Labrador retriever mix, as the Durham County animal shelter had labeled her. She possessed the classic Lab muzzle, along with a dense black coat and an eagerness to please. But what else was she? With that broad forehead and the mouthy way she wrestled at the dog park, might there be some pit bull in Scooter’s background (not that we would mind)?

If Scooter had come into our lives a few years earlier, we would have had to rely on educated guesses. That was before the genetic revolution began flooding the consumer market with DNA tests. Now, in exchange for a blood sample, cheek scraping, or vial of saliva, we are promised insight not only into our own genetic roots, but also those of our dogs. Anyone can gain access to a trove of information that will supposedly reveal where our ancestors lived and whether we possess risk markers for baldness, obesity, arthritis, or cancer.

In 2003, the Human Genome Project completed the first detailed map of our DNA, sparking a frenzy of research. Ever since, that map has been scrutinized by scientists all over the world looking for markers for every imaginable illness and physical trait. But even before geneticists have fully digested these findings, entrepreneurs have begun designing test kits and selling them to the public. You can find out, at least according to the marketing claims, a good many things: your odds of suffering a heart attack or stroke; whether you’re descended from Genghis Khan; and even who might find your body odor alluring.

These are the perfect products for the twenty-first-century curiosity seeker. We are a nation of voyeurs: We watch reality television, read strangers’ personal blogs, and constantly check our friends’ Facebook statuses. As a journalist, I’m inquisitive too, and I have the privilege of listening as people tell me their most intimate stories. So perhaps it was only natural that I turn that curiosity inward; I decided to embark upon my own genetic journey and report my discoveries along the way. Because the best adventures often feature a faithful canine companion (and because we muttowners are relentlessly curious about where our dogs came from), I decided to bring Scooter along with me.

At the vet’s office, I watched as the receptionist sized up Scooter’s sinewy body. “Hello,” she said. “You’re a pit bull.” We would see. Scooter’s blood was drawn and sent to a canine genetics lab in Nebraska. The test, called the Wisdom Panel, identifies 170 breeds and claims an accuracy rate of 90 percent for mutts whose parents are purebreds, albeit from two different breeds. As I waited three weeks for her report, I started the process of submitting to my own DNA tests.

Outline of dogs

Traditionally, genetic testing has been the province of the medical establishment. Many couples learn about these tests as they embark on having families: It’s possible to screen for certain genetic defects in the parents before pregnancy, the fetus during pregnancy, and the baby immediately after birth. In the 1990s, as the science advanced, doctors rolled out a new type of test, which screens adults for mutations that predict cancer. Having a mutation doesn’t predetermine you’ll get sick, but it puts you at a much higher risk. The best known of these tests looks for alterations in two tumor-suppressing genes called BRCA1 and BRCA2. (The latter gene was located by a team that included Duke researchers.) A woman with a known BRCA mutation faces up to an 85 percent chance of developing breast cancer and a 60 percent chance of developing ovarian cancer. Women who test positive can discuss preventive steps, such as prophylactic mastectomy, with their physicians.

My own family has two BRCA risk factors: We’re Eastern European Jews, a population that carries the mutations in elevated numbers, and one of my great-grandfathers had breast cancer, which is rare in men. So I decided to start my genetic journey old-school—with a doctor-approved test in a hospital setting. I contacted the Duke Comprehensive Cancer Center and scheduled an appointment with genetic counselor Robin Hutchison King ’00.

Before I arrived at the clinic, King took my medical history by phone. Using a formula based on ethnicity and family disease, she calculated my chances of having a BRCA mutation at 6.5 percent—low enough not to panic but still twenty times higher than normal. “That’s telling us that it’s worth testing,” she said.

“If I were not doing an article, would you still recommend it?” I asked.

“Yes,” King replied. “When there is breast or ovarian cancer in a Jewish family, then it’s definitely worth testing.”

King walked me through the science, and we talked about what all the possible outcomes might mean. She told me about the Genetic Information Nondiscrimination Act, which protects patients from insurance and employment bias. And we discussed the price. For $460, covered partly by insurance, the test would search for three mutations commonly found in Eastern European Jews. I signed a consent form, and King led me down the hallway to have my blood drawn.

Over the eleven days it took for the results to come back, I tried to keep my anxiety levels manageable. The odds of being fine were overwhelmingly in my favor, but when I mentioned the male breast cancer in my family during telephone interviews with genetics experts, I noticed some uncomfortable pauses at the other end of the line. Each time I detected such a pause, I felt a little less like a detached journalist. I kept pacing the hallway between my living room and kitchen, asking my partner repeated questions that began, “What if…?” I wondered how I would break the news to my female relatives, who would likely bear the brunt of the mutation if they had inherited it. I began worrying that I’d acted irresponsibly by not first consulting with them. It was a great relief, then, when King called with the results: The DNA analysis showed no abnormalities in my BRCA genes.

Feeling more assured on life-and-death issues, at least for the moment, I turned to a less urgent, but more intriguing, question: Where in the world, literally, did I come from? Like many Americans, my family tree has invisible roots: My great-grandparents emigrated from Eastern Europe 100 years ago, leaving behind all records of our collective history. Without the benefit of genealogical records, perhaps my genes would tell me something about my ancestral past.

 

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