Out of the list of potential problems, I focused on the one illness I had a symptom of. I used to have a sensitive stomach, but I started avoiding foods with wheat and dairy two years ago. Since then, the recurring episodes of bloating and irritable bowel problems have virtually disappeared.
“There’s such a spectrum of gastrointestinal disease,” Levin said. “A lot of people go a long time being batted around from specialist to specialist and get a whole battery of tests.” The DNA test might at least point me in the right direction, she added.
We discussed what little I knew about my family history, addressed concerns I had, and talked about the possibility of following up with my doctor. I knew I wouldn’t go home and ask my doctor for a colonoscopy, especially since my intestinal problem subsided years ago.
Next I spoke to the Navigenics CEO, Mari Baker. She, of course, had taken the test and was lucky, in the sense that hers had led to an actual diagnosis. “There might be a low lifetime risk of developing a disease, but if I’m the one genetically loaded for it, maybe I’m the person who is going to get it,” Baker said. Her risk for celiac disease was higher than in the average population, so she asked her doctor for follow-up testing, which showed she did have the illness. Now she cuts gluten out of her diet to prevent uncomfortable symptoms.
Baker’s diagnosis was just one example of how Navigenics can empower people. The company is the brainchild of a doctor and a geneticist. David Agus, the research director of the Louis Warschaw Prostate Cancer Center and director of the Spielberg Family Center for Applied Proteomics, both at Cedars-Sinai Medical Center in Los Angeles, spent most of his time with end-of-life cancer patients. He told a friend how he wished there were a better system in place to screen people for genetic risks, so they could prevent cancer. That friend introduced him to Dietrich Stephan, now the chief science officer of Navigenics, who had been studying the genetics of disorders such as autism and exercise-induced heart attacks at the Translational Genomics Research Institute in Arizona. After a few phone conversations, Stephan and Agus raised enough capital to create Navigenics.
Now I had some information about my genetic profile, but there were still two other tests to consider. I wanted to see if everything matched up.
In the meantime, I got a little depressed when I printed out a 236-page document—a book of Boonsri—and read about some of the symptoms of the diseases I’m at risk of developing: sausagelike swelling, morning stiffness, inability to identify people’s faces, fat rolls on my stomach, and bloody stools.
I felt helpless. I didn’t know what action to take or if I should be taking any at all. I followed up with a second Navigenics genetic counselor, Shannon Keiran. We focused on the diseases I’m at risk for and talked about what I should do to prevent them. Watch out for obesity, she said. That’s easy, I thought. I run every day. While my risk for Crohn’s was higher than most, my chance of getting it was still less than 1 percent (I’d say those are pretty good odds). When it comes to macular degeneration, genes play a big part. Wearing sunglasses may help, Keiran said. For osteoarthritis, make sure you don’t wear high heel shoes because it places strain on your knees, she said. I asked about alcohol consumption. Psoriasis may be affected by alcohol. And of course, she added, “moderation is key.”
Would the next two tests assuage my fears—and end my occasional bouts of hypochondria?
23andMe
DISCOVER paid 23andMe $999 for a DNA test (no reporter’s comp this time). I rushed through the fine print: “If you are asked by an insurance company whether you have learned genetic information about health conditions and you do not disclose this to them, this may be considered to be fraud.… You may learn information about yourself that you do not anticipate. This information may evoke strong emotions and has the potential to alter your life and worldview. You may discover things…e.g., your father is not genetically your father.”
No problem.
The next day, on December 12, 2007, a second FedEx box arrived at my office. I opened the bright green package at my desk and prepared for spitting episode number two. The DNA test kit included a vial and instructions. It was easier the second time. I mailed the sample to 23andMe’s contracted lab, Illumina in San Diego. (They use a different lab now.) Four weeks later, in January, I signed on to my 23andMe online account to “unlock the secrets of [my] own DNA.”
23andMe, like Navigenics, took my markers and calculated my genetic risks for certain diseases. I began surfing my genome, all 580,442 SNPs they had sequenced. In addition to telling me my risk for certain diseases, 23andMe provided ancestry information, social networking functions, and more (details below). Of the 70 different conditions to choose from, let me start with the silly ones. I have dry earwax (true). Apparently my sense of smell stinks (true) thanks to a genotype of TT on my 14th chromosome. One of the most fascinating things I learned is that my blood type is made up of more than 25 blood groups. There’s even information available regarding histocompatibility. (I can see if a potential date is compatible with me immunologically.)
I checked my risk for incurable diseases like lupus. I had access to my relative risks of psychiatric diseases such as bipolar disorder and schizophrenia. I clicked on lactose intolerance. 23andMe said I should have the enzyme to digest milk. But I know I can’t digest it. Believe me, I’ve tried.
