States Crack Down On Online Gene Tests
Robert Langreth and Matthew Herper 04.18.08, 6:00 AM ET

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 Google (nasdaq: GOOG - news - people ) co-founder Sergey Brin) and Navigenics, of Redwood Shores, Calif., as well as their publicly traded partners Illumina (nasdaq: ILMN - news - people ) and Affymetrix (nasdaq: AFFX - news - people ). The letters say the companies cannot perform their gene scans on New York residents without a permit. Warning letters to three more online gene-scanning firms are due to go out soon, New York says.

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 Genentech (nyse: DNA - news - people ), use DNA chips to give people preliminary data on their risk of a variety of diseases. DeCodeMe and 23andme also offer info about how your genes relate to physical traits such as bitter taste perception.

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."

I agree with the NY regulators in almost every aspect of their agenda. Gene testing is de facto a medical procedure, semantics aside. People will and do use the information to base future medical decisions upon, and as such the industry should be regulated. Their point that a few bad apples can ruin it for everyon is appropo as well, we don't need absurdist claims ruining the reputation of a valid field of biology. It would sadden me if the genomics testing industry suffered the setbacks that stem cell research has in the US, not because of the tech itself but of the actions of people involved (both for and against). I do want these companies to suceed, and I do want them to be profitable for both the cleint and companies both; oversight is needed and I don't think that asking for a Doctor to be involved in the process is a setback.

If I want to have my genome analyzed by some private party, that's my business. The government has no business interfering.

Fair enough, wouldn't you want that party to prove its worth, e.g. state certified.

State certification is not necessary. Reputation can be determined in other ways.

I am not sure why the state needs to be involved here. Just seems like another avenue through which bureaucrats want control....for control's sake.

I think the reasoning is that people may be making medical decisions on the basis of the genetics, perhaps very much to their detriment. As long as the genetics companies are professional and behave responsibly, everything should be fine. Problems may occur because given the low barriers to entry, some companies may pop up that don't behave responsibly.

I think the main reason is because a significant segment of the voting population fear that genetic information can be used as discrimination for health insurance (in which case they would not benefit). If I am a healthy person with good genetics, maybe I could get cheaper health care coverage by submitting my genetic code or a report which indicates that I am not predisposed to cancer a, b, c...obesity a... However, I don't think genetics will be the most important factor. In fact, they probably should not use it as it would be unfair...however, using age is also unfair and they currently do this. So if they allow heath care coverage to be based on age, why not genetic information also, both are unfair. Same reason why I can't figure out why I have to pay more for auto insurance because I am the wrong gender and age. Why not classify people by race too? I am amazed at how some types of discrimination are accepted while others make newspaper headlines.

MyGene Manifesto:

"It is the inalienable right of every individual to access their personal genetic information without intervention or regulation by any third party".

So long as genotyping service companies do not make medical diagnoses without the involvement of medical professionals, then the government has no place regulating access to personal genetic information.

This is akin to the regulation of obtaining body-weight or blood pressure measurements.

They have good reason for that fear. No matter what is done to prevent it as far as laws and regulations, you know eventually a way will be found for the actuaries to get their hands on genetic information. This information will be analyzed to save insurance companies money and drive profits. There are huge corporations and huge money involved here (an unstoppable combination in our country). Its really just a matter of time.

Preventative Dx tests are the answer to the health care crisis we are facing, not the problem.

It's inevitable that people are going to turn to 3rd party high-throughput and self service models as there is very little that a human doctor can offer from a Dx perspective that can surpass what evolving automated diagnostic and information tools will be able to provide.

This is exactly the type of disruptive technology we need to shake up the bloated health care system.

This post has been edited by maestro949: 10-May 2008, 10:29 AM

The problem is that many people can get diagnosed as having diseases they don't have since gene testing is such difficult to judge.

DNA analysis is just one datapoint and should be treated as such. They indicate statistical probabilities as to the likelihood that particular diseases may emerge, not that you have the disease or absolutely will get it. For most of diseases with single gene mutations the data is pretty good in regards to whether you'll eventually experience symptoms. For multi-gene pathologies, prediction is still pretty hazy but this will improve over time.

I see no harm in letting people scare the hell out of themselves with the raw data. If someone makes alterations to their diet and lifestyle and screening activity to delay or catch the onset of symptoms, I would think that would be a good thing... for all of us. Even if they wouldn't have ended up with a disease indicated by a DNA test, the changes they make would likely delay other diseases too.

I can see all kinds of problems with people scaring the hell out of themselves. A lot of them will get depressed or anxious with all manner of bad consequences. I'm afraid that for each person that made positive changes, there would be several that would go downhill.

With this stupid legislation logic, all online and offline health quizzes, from diagnoseme.com
right down to those in daily newspapers and magazines would have to be banned.

Decodeme and 23andMe especially do not test for _very certain_ risks such as
chorea huntingon, only predispositions. That's even the same as banning or
regulating a BMI/fat-measuring body scale.

DecodeMe has clearly visible probability bars where you can compare the
average prevalence with your predicted prevalence, which is a few % off
to the right or left (see DecodeMe demo). If anyone gets scared from a visualization
that explains and indicates only small predisposition variance by genes, he's just ignorant;.

We already know we're all doomed to die. What could be more depressing than that? Now we just get to know what are probable killer will be barring we don't get hit by a bus. I'd like to go even one step further and build everyone a talking clock to wear around their neck that tells them precisely when they are going to die too. Technology should get us there soon too. Perhaps these additional data points might wake a few people up to recognize we're reaching a point where we could actually do something about it. Perhaps then it'll get them speaking up about their anxiety and depression.

Go ad free, join ImmInst as a Full Member.