The flashy new industry of personalized gene testing is experiencing some early blowback.
Over the last six months, New York State's Department of Health has sent letters raising the specter of fines and jail time to six online gene-testing firms that offer consumers the ability to peer into their genome to assess their future risk of getting diseases such as cancer, heart disease and multiple sclerosis. Often, it turns out, the services offering these DNA deep-dives are doing so without the involvement of a doctor. That puts them on the wrong side of the law.
Targets in New York's letter-writing campaign include the high-profile 23andMe, in Mountain View, Calif, (run by the wife of
California health regulators are also investigating 12 complaints from the public about certain online gene testers. California won't name the targeted companies, but notes that in the state "all genetic tests must be ordered by a licensed physician." Overall, 24 states prohibit or limit so-called direct-access testing without a doctor or other medical professional's involvement, according to a 2007 survey by Johns Hopkins University's Genetics & Public Policy Center.
These new online services allow consumers to order genetic tests over the Web with a credit card. Consumers get a kit in the mail and send it in with a cheek swab or spit sample. The results are posted a few weeks later on a secure Web site. Navigenics, Iceland's DeCode Genetics and 23andMe, whose investors include Google and
Both 23andMe and DeCode, which has not received a warning letter from New York so far, argue that the lab testing laws don't apply because their products are not medical tests. "23andMe's services are not medical ... they are educational," argues 23andMe spokesman Paul Kranhold.
That argument doesn't mean spit to the New York regulators, who are concerned about the reliability of the online tests and their potential to send people rushing to their doctor demanding a cure for a fatal disease they may never get.
"Frankly, it blows my mind that someone would be saying that looking at whether you are going to get multiple sclerosis is recreational," says a New York official who spoke on condition of anonymity. The official says New York is not about to shut the services down but, "we would refer them to the attorney general's office" if they continue to operate in violation of the law.
Navigenics is putting New York residents on a waiting list to avoid flouting the law until it can get a permit. It says its $2,500 service differs from many others because it includes consultations over the phone with a genetic counselor to explain what the results mean. Navigenics employs a doctor who officially orders tests for consumers. 23andMe said that it would employ doctors if state regulators require it; it said it was in "active dialogue" with New York.
The clash highlights the fragmented regulatory environment for bespoke genotyping. The Food and Drug Administration has left it up to the states to decide what's permissible without a doctor's approval. "Basically everybody's trying to figure out what the regulatory environment is going to be for this consumer stuff," says Jay Flatley, Illumina's chief executive. "What's a diagnostic? What's not a diagnostic? And it's tricky."
Complicating matters is the fact many online gene testers, including 23andMe and Navigenics, don't actually perform the scans themselves; they are simply Web portals that disclose the results of tests performed by contract labs. "There are very few federal regulations in this area," says Elliott Stein, an attorney who represents gene-tester HairDx, which just received a letter from New York. "Unfortunately for these companies, they've got to deal with the regulations in each and every state, and often that is a judgment call."
One worry is that people who order online gene tests could get misleading information. For example, 23andMe tests for some gene variants involved in mildly raising breast cancer risk, but not genes called BRCA1 and BRCA2 that vastly raise breast cancer risk. Harvard Medical School's Mark Daley says if you found out that you had genes that slightly reduced the risk of cancer, but didn't check for the real cancer-causing gene like BRCA1, "you get a potentially dangerously misleading answer."
DeCode seems to be trying to have it both ways. The Icelandic company's diagnostics unit sells tests for gene variants that boost risk of diabetes, heart attack and other diseases. These single-disease tests are ordered through a doctor and are not available to New York residents because DeCode's lab is not licensed in the state.
However, New York residents can also get their whole genome scanned for $985 through DeCode's DecodeMe Web site. This service tests for 26 different disease-promoting genes and traits, including some of the same variants in its doctor-prescribed tests. What's the difference? "We don't believe [DecodeMe] requires licensing because it is not a medical test," a Decode spokesman explains. "It is very clear it is not a medical thing." New York health officials said they were not aware that the DecodeMe service was available in New York.
Some commentators argue that the wild-west business of gene testing needs more regulation, lest abuses discredit the whole industry before it has a chance to thrive.
In a recent commentary in Science, Kathy Hudson, director of the genetics and public policy center at Johns Hopkins University, points to several diagnostic companies that screen genes involved in drug metabolism to determine how to dose antidepressants. Some of these companies are making claims that haven't been proven in clinical trials, she says. She noted that one lab operator, Genelex, states on its Web site that its test is "required to effectively prescribe Paxil." In a press release, Genelex said that the quote was taken out of context, and that trials were ongoing.
Genelex Chief Executive Howard Coleman defends his test. He says that folks inside the beltway have a knee-jerk reaction towards calling for new regulations, instead of enforcing laws already on the books, such as those against false advertising.
Hudson calls for a mandatory public registry of all gene tests to allow consumers a better sense of what they're paying for. "Without that, there are bound to be bad actors that enter the marketplace because the barriers to entry are so low."