In April, a startup company called Navigenics threw a swanky 10-day celebration in lower Manhattan to launch its highly publicized personal-genomics service, which offers genetic risk assessments for 21 complex health conditions–such as heart attack and diabetes–that are partly mediated by multiple genes. (I received complimentary genotyping from Navigenics; it normally costs $2,500.) Unbeknownst to attendees, the New York State Department of Health had sent a warning letter a few days earlier to the company and 22 others that offer similar products, telling them that they needed a permit before they could sell their services. New York-based party goers would be unable to partake in Navigenics’ testing.
Indeed, both Navigenics and its main competitors–California’s 23andMe and Iceland’s deCode–have faced a stern backlash from health experts and regulators. All three companies use gene chip technology to scan an individual’s genome, at a cost of $1,000 to $2,500, for variations that have been linked to diseases or to traits such as eye color and muscle strength. Understanding their risk for a disease, says Navigenics cofounder Dietrich Stephan, allows people to make plans, take preventive steps by altering their lifestyles (exercising and keeping the brain active, for example), and stay informed about new therapies. But making such tests available directly to consumers over the Internet, as these companies do, has aroused concern in both scientific and public-health circles. In their disclaimers, all three say that they are not offering medical advice or practicing medicine. But critics say that it’s not just medicine, it’s bad medicine.
In January, the New England Journal of Medicine outlined major concerns in an editorial titled “Letting the Genome Out of the Bottle.” The tests, the journal charged, are not clinically validated–meaning that it’s not clear exactly how predictive their results will be. What’s more, a consumer who discovers a risk for a disease may not be able to do anything about it. The test results could lead to unnecessary anxiety–or, worse, to false confidence. Someone whose test indicates no predisposition to diabetes, for example, might abandon efforts to diet and exercise. In short, the journal concluded, doctors should tell patients that the information derived from these services is essentially useless and that people interested in their genetic data should “ask again in a few years.”
In June, California followed New York’s lead and sent cease-and-desist letters to 13 companies, including Navigenics, 23andMe, and deCode. The state complained that companies should not offer their tests directly to consumers without a physician’s order; they were, according to an official at the California Department of Public Health, “scaring a lot of people to death.” A few of the companies claimed to be in compliance with state law. Others stopped offering their services in California, at least temporarily.
The authorities’ reaction is both wrongheaded and arrogant. Whatever their shortcomings (and they have plenty), these companies will not vanish. In a survey commissioned by the Personal Genome Project–a nonprofit effort led by Harvard University geneticist George Church, which seeks to better understand the relationship between genetic variation and human health–the vast majority of respondents were interested in gaining access to their genetic information. The National Geographic Society’s Genographic Project, a global research study using genetics to shed light on ancient human migration, far exceeded its public-participation goals: 250,000 people signed up and paid $100 each for coarse-grained views of their genetic ancestry, compared with initial expectations of 100,000. We know that people want their genomic data; we need to learn why they want it, what they expect from it, and how they believe it should and shouldn’t be regulated.
George Church says that regulators’ fixation on the relation between personal-genomics companies and medicine is misguided. “If you’re interested in medicine, you should talk to your doctor,” he says. “But if you’re interested in seeing a revolution close up and participating in research, then you should [be free to] mess around. The other thing I don’t understand is this: what kind of person is ‘scared to death’ by a test he went out of his way to get?”