The Burden of Knowing

For the right fee, a Cambridge firm called Knome will unravel all the secrets hiding in your genes. But what happens when those secrets include a higher risk of getting cancer? Or of contracting a crippling disease like Alzheimer’s? Would you be able to handle that information and the terrible choices it forces?
I wasn’t.

Marcy Darnovsky is the associate director of the Oakland, California–based Center for Genetics and Society and has been an outspoken advocate for the oversight and responsible use of biotechnology. She says personal genome companies’ aggressive marketing, slick advertising, and portentous mottos (like Knome’s “Know thyself”) have a “very important, if subtle, effect” of over-emphasizing the role DNA plays in who we are. She believes they’re promoting a culture of genetic determinism, in which we risk losing sight of the environmental and social causes of diseases and our own ability to do something about them. That shift, she fears, could speed us into a world of high-tech eugenics. “We should take a look at lessons of history,” she says, “when we start thinking about the future trajectory of new technologies.”

Many others share Darnovsky’s concerns about the lack of oversight of this emerging market. “It’s not like what happens with drugs, where you can’t throw something out there saying it cures cancer unless you have the data to back it up,” says Gail Javitt of Johns Hopkins’s Genetics and Public Policy Center, which pushes for the legal system to keep pace with genetic invention. “There is no external third party evaluating the quality of these tests.” The FDA has the authority to monitor them but does little to monitor the field.

So far, state governments have been the only ones to take action. New York has banned 37 companies, including Knome, from doing business there until they comply with state law. California has sent cease-and-desist letters to Knome and 13 other companies, demanding they get licensed. (The state has since rescinded its letter to Knome.) In Massachusetts, the Department of Public Health is studying whether to regulate any company that provides genomics services to residents; it currently regulates only genetics tests performed in labs within the state.

Beyond these policy concerns are more-fundamental objections raised by a number of doctors, who say the science upon which the tests are based is flaky. Last year the American Medical Association adopted policy guidelines recommending against direct-to-consumer genetic testing.


If you own a car, chances are you also have car insurance. George Church envisions personal genomics as one day playing a similar role in our society: a hedge against the plausible but dreaded. He believes that everyone should get sequenced, if only because diseases are foreshadowed within our DNA. “It’s better to learn it early, as early as possible,” Church says, “because there might be things that you can do.”

No Knome customers would speak to me for this story, and the company would not release information about its clients. But I was able to get the stories of a few people who’ve used Navigenics, the California-based company that does genetic scanning. The head of its genetic counseling staff, Elissa Levin, mentioned one woman whose scan indicated an elevated risk of colon cancer, a disease for which she had no family history. At 39 she hadn’t thought of screening for it, nor had her doctor; that’s something you don’t start doing until you turn 50. Prompted by the results, she requested a colonoscopy, during which doctors found and removed a benign polyp. Had it festered there for a decade until a routine colonoscopy was called for, it likely would have grown into a potentially fatal tumor.

Another Navigenics client, a Cambridge health consultant named Craig (who asked that his last name not be used), said he wasn’t fazed by the possibility of learning of diseases lurking in his future. With two grandparents who lived till they were 99 and one who died at nearly 90 (in a car crash), he thought he was “pretty much bulletproof.”

The results from Navigenics informed him he had a slightly higher chance of getting type 2 diabetes and was three times as likely to develop macular degeneration. He also had an elevated risk of heart attack. He remembered that his other grandparent had died of one. Craig now tries to eat better; his wife, Krista, bought him a gym membership. Of course, he should be watching what he eats and working out anyway, “but once you are looking at your results on your computer screen,” Craig says, “that kind of message is harder to ignore.”

Initially, Krista was against Craig’s getting the profile done. She thought it seemed like playing God. She certainly doesn’t want to know the contents of her own DNA: Breast cancer runs through her family. “I am the kind of person who would get so stressed out by the news that it’d probably suppress my immune system, and I’d wind up getting cancer,” she says. “What good would that do?”

This is a common refrain among people who don’t want to test. What good is it to know you have a predisposition in your genetic makeup to an untreatable disease? For them, the looming threat of an agonizing death is a fate as bad as, or worse than, the illness itself. Church respects this point of view; the company requires its clients to complete intensive counseling before it accepts payment or takes a drop of blood. Still, Church says, even in the case of incurable conditions like Alzheimer’s or Huntington’s, “you can raise money to do research or encourage research, or offer yourself and your family as guinea pigs to test out new drugs. Whatever you want to do to get involved.”

James Watson, one of the discoverers of DNA’s structure, felt differently. He volunteered to be the first individual to be sequenced, in 2007. Watson made sure Jonathan Rothberg, the scientist who did the procedure, hid from him the results of the ApoE gene, a variation of which is associated with Alzheimer’s disease. Rothberg was only too happy to honor the request; he’s since had his own genes sequenced, and refused to find out his own ApoE status.

A decade ago, a cousin of Rothberg’s was tested for a genetic mutation that leads without fail to Huntington’s. This cousin had already watched her sister suffer the ravages of the disease. She tested positive. But she wasn’t prepared to make her expected cause of death the focal point of the rest of her able-bodied life. Instead, she killed herself.


  • Jack

    Get in touch with me. I have thought of you often over these years, wondering if you still want bagels.