Part I: BEFORE
I just handed over my DNA to a gene-testing company that will peer into my medical future for $300. This could cost me in more ways than one.
Friday, Dec. 26, 2008 | I’ve signed a 5,600-word consent form, coughed up $300 and sacrificed my saliva. Now it’s time to get a peek at what my DNA says about my life ahead.
Within a few weeks, hundreds of San Diegans — including me — will get reports listing our chances of getting 23 diseases, including rheumatoid arthritis, lung cancer and multiple sclerosis. These fortunes without cookies are based on our genetic blueprints.
What will we do with this information? Rush to the doctor’s office whenever we feel a twinge? Exercise more to counteract a high risk of, say, heart disease or diabetes? Or will we just ignore everything and help ourselves to more gravy?
Inquiring researchers want to know. For the next 20 years, researchers at Scripps Health will keep eye on me and the 2,600-plus other participants in the Scripps Genomic Health Initiative.
One of the goals of this study, which ends its enrollment phase this month, is to figure out how gazing into a genetic-based crystal ball affects people’s lives. The study will also examine the links between genes and disease.
For now, I’m still getting over the experience of expectorating in front of an audience during my recent visit to a “collection center.”
Taking part in this study involves a marathon of spitting, not just letting someone swab my mouth with a Q-Tip. Like other participants, I had to fill a small vial with about a half teaspoon of saliva, a process that can take 10 minutes or even half an hour. It wasn’t an easy task: My mouth turned dry while two nurses, a public relations specialist and a photographer looked on.
I eventually managed to fill the vial, and my spit departed for a laboratory in Northern California that will analyze it. At the same time, my wallet became $300 lighter as I paid for the privilege of taking part in the study. Participants, who include Scripps Health employees, their families and friends and members of the public, get a break on the normal $2,500 cost of a genetic analysis by a company called Navigenics.
As a study participant, my job is to respond to questionnaires about my health for 20 years. In return, within the next few weeks Navigenics will send me an e-mail confirming that the results of a scan of my genome are in. Then I’ll be able to go to a secure website and peek into the future. Sort of.
Eighteen diseases will be listed, along with the percentage of the population that gets each of them and my own estimated risk of developing them.
The risk, that is, that I had when I was born. That I had 20 years ago. That I have today.
My genes don’t know about my Ben & Jerry’s addiction, the countless hours I’ve spent on the couch instead of a treadmill, or my aversion to tobacco. That means the risk levels won’t be entirely accurate. They can’t take into account environmental factors, such as what I eat and how often I exercise.
Instead, my numbers will only compare me to people who have been studied in previous research and have genetic traits like mine. “This is a piece of the puzzle,” said Elissa Levin, director of genetic counseling at Navigenics. “This is not a diagnosis, not a definitive.”
Not surprisingly, there’s plenty of debate about whether these kinds of genetic reports have much value. Some scientists question whether they’re valid at all. (More on that in Part II of this series.)
There are other reasons to be wary of getting a test like this. “There’s a whole list of risks, hypothetical perceived risks, things that may happen,” said Jason Bobe, director of community for Harvard University’s Personal Genome Project, a genetic study that aims to enroll 100,000 people.
Some possible risks are unlikely, to put it mildly. Bobe said it’s possible, for example, for someone to frame me for a crime by cloning my DNA. Of course, a crook could do the same thing by swiping a strand of my hair. So I’m not too worried about that remote possibility.
Still, there’s a reason the study’s consent form has more words than the U.S. Constitution: Because lots of things could go wrong.
Navigenics could mix up my saliva sample with someone else’s. The gene-testing process might go haywire. Hackers might gain access to their database of personal genetic information and put details about my DNA on the Internet for anyone to find.
That may sound far-fetched, but there are very real prospects that people will use information about my health against me. While President Bush signed legislation earlier this year banning health insurers and employers from using genetic profiles against people, there’s no guarantee that the law will never change. Also, insurers that provide life and disability coverage can still deny coverage to people — now including me — because of genetic test results.
There’s another risk: I may discover information that will totally freak me out.
It’s possible, although not likely, that the results could indicate that I’m as much as 80 percent likely to get one or more of the listed diseases, said Levin, the genetics counselor. Some of the diseases listed, like obesity and restless leg syndrome, sound fairly easy to handle. Cancer and aneurysms? Not so much.
Many people simply don’t want to know what their future might hold in terms of illness. They’re afraid of worrying, obsessing and driving themselves crazy.
“There’s definitely information seekers and information avoiders,” said Kathy Hudson, director of the Genetics and Public Policy Center at The Johns Hopkins University. She puts herself in the information-avoider category and has no interest in getting her genes tested.
“I am an obsessive person, I would worry,” she said.
I’m a bit of a worrier myself. It’s no coincidence that obsessive-compulsive behavior runs in my family. But for some reason I’m not too concerned about the results.
Maybe it’s because I believe that if the future could be grim, I might as well be prepared and know what to look out for. Call it worst-case-scenario management.
If the test says I’m at high risk for colon cancer, I’ll get an early colonoscopy. High probabilities of cancer will send me to the doctor’s office more often for screening.
But if lots of people do the same thing, that could spell trouble, said Bobe, the Harvard gene guru. “If you get back a report saying you are at risk for 10 things, you have 10 to-dos,” he said. “You may spend a whole bunch of money on a diagnostic odyssey to see if you have these conditions. Along the way, we may save a lot of lives, but spend a lot of money on people getting unnecessary medical care.”
On the bright side, none of us taking part in the study will get irreversible verdicts from this genetic test. It doesn’t track genetic signs that indicate a person could be virtually doomed to develop breast cancer or cystic fibrosis. So there are no death sentences here or anything close.
But there one uncomfortable possibility: that the test will reveal me to be utterly and completely average, not at high or low risk for anything.
That’s what happened to Bobe after he took a genetic test, and he thinks I might join his club. “I suspect you’ll be disappointed in what you find,” he said.
With a height of 6-feet-7-inches and a personality that’s been charitably described as oversized, I’ve never quite managed to be like everybody else. But who knows? Maybe it’ll be nice to be normal for a change.
Part II: AFTER
I’ll get a list of 23 diseases and my genetic risk of developing each one. It might be good news or bad — or neither. What I can do with this information about conditions ranging from cancer to restless leg syndrome? And is it even reliable? Watch for the next installment in the coming weeks.
Randy Dotinga is a San Diego-based freelance writer. Please contact him directly at firstname.lastname@example.org with your thoughts, ideas, personal stories or tips. Or set the tone of the debate with a letter to the editor.