Mail-in Genetic Testing Unreliable, Misleading

July 22, 2010— -- Direct-to-consumer genetic testing promises vital insight into your own DNA. But these mail-order spit tests are rife with mistakes and misleading information, according a recent report by the Government Accountability Office (GAO).

This morning, Gregory Kutz, managing director of forensic audits and special investigations at the GAO, shared with a congressional committee the results of his investigation into companies that provide direct-to-consumer genetics tests that require a saliva sample from the customer and provide an assessment of the person's genes.

Using DNA from five donors, undercover investigators sent out two DNA samples from each donor -- one with factual descriptions of donor age and ethnicity, the other with fictional -- to four companies offering consumer genetic testing.

Navigenics, 23andMe, and Pathway Genomics, three of the companies evaluated by the report, were present for Kutz' testimony for rebuttal. The remaining company, deCODE Genetics, was not there and did not offer a prepared statement to the committee.

The results, as well as the interpretation of the results provided by the company, were "misleading and of little or no practical use to consumers," Kutz told the House Energy and Commerce Subcommittee on Oversight and Investigations, noting that results from some companies directly contradicted those from others.

"Sixty-eight percent of the time our donors received different predictions for the same disease," Kutz told the subcommittee.

Nancy King, co-director of the Center for Bioethics, Health, and Society at Wake Forest University, says that it is not surprising that the results would be so varied given the lack of standards of interpretation for genetic testing:

"We're taking things that are very difficult to interpret. Except in extremely rare circumstances, when you're found to have a gene associated with [for example], a sort of cancer, that background risk is pretty low. What adding to that [risk] means, is really up for grabs."

Misleading Results, Misguided Information

The results received by the GAO's fictional consumers were not only plagued by contradictions but were supplemented by misguided information by company representatives, Kutz told the subcommittee.

One donor was even told that he had average, below average, and above average risk for prostate cancer and hypertension. Another was told that he was at low genetic risk for atrial fibrillation, even though he had been implanted with a pacemaker for atrial fibrillation 13 years ago.

Dr. Hope Northrup, a geneticist at Children's Memorial Hermann Hospital in Houston, Texas, said in defense of the test that many health conditions -- heart conditions included -- cannot be entirely chalked up to genetics alone. In other words, factors like lifestyle choices and environmental factors can play a strong hand.

"It doesn't mean that the test was wrong, it simply means that the test gave a very small piece of information," she said. "I just think that the public needs to realize with a caveat that they may not fully understand the information that they are being provided and don't get upset, but seek some help trying to figure out the proper answer."

But in some cases, the companies may be distorting the context of test results. In explaining how the results translate into real life risk, one company told a donor that her high risk of cancer meant that she was in "high risk of pretty much getting it" -- a shockingly inaccurate and irresponsible interpretation of the nebulous genetic test, experts said.

Questionable practices and deceptive marketing were also displayed by the companies and their websites, with one donor being told that she could secretly collect her fiance's DNA sample to "surprise" him, even though this breach of privacy is illegal in at least 29 states, according to the Genetics and Public Policy Center at Johns Hopkins University.

Nutritional supplements supposedly tailored to the donor's DNA were advertised as able to replace prescription medications for high blood pressure and high cholesterol -- a practice that markets illegally markets the supplement as a drug without the required FDA approval, Kutz said.

Companies Defend the Industry

The House Energy and Commerce Subcommittee on Oversight and Investigations grilled representatives from 23andMe, Navigenics, and Pathway Genomics over the findings during a Wednesday hearing held to discuss the public health effects of direct-to-consumer genetic tests.

The companies defended their products and said that consumers have the right to know their genome in order to make informed health decisions.

"People have the right to access their genetic information if they want to do that," said Ashley Gould, general counsel for 23andMe.

Dr. Vance Vanier, president and CEO of Navigenics, said, "This sort of testing is safe and does not cause long term undue psychologic harm."

Gould said she was "concerned by the percentage of discordance" in the GAO report, but added that 23andMe is "extremely confident in the analytical work we do."

Rep. Bart Stupak (D-Mich.), chairman of the subcommittee, shot back: "Then why wouldn't you get the same results as the other companies?"

But after the presentation, 23andMe spokesperson Adam Isserlis told ABCNews.com that the GAO refused to discuss the flawed report with the company, but reaffirmed that they are confident in the accuracy of their services.

"We embrace the ideas that the FDA offered today and look forward to helping to develop a regulatory framework that provides standards and transparency across the industry," the company said in a statement to ABC News.

Debate Rages Over DNA Test Value

One witness, Dr. James Evans, a professor of genetics at the University of North Carolina at Chapel Hill, agreed that people should have the choice to access a profile of their genes, but he said the current tests don't actually deliver the medical value that they promise.

"The value of the bulk of this information is extremely low," Evans told the panel. He used an example of a person discovering through a home genetic test that he has an increased risk to develop Crohn's disease.

In his testimony today, Kutz concluded that while genetic testing is a promising area of science, "consumers need to know that today, genetic testing for certain diseases appears to be more of an art than a science."

King echoed this concern, saying that these results "are being marketed as extremely significant information, and that is a problem. [Consumers] have come to believe that genetic information is the most significant information about someone's health, and this is misguided," she says.

"Part of the problem for consumers is that when you hear genetic risk, it sounds formal and official, but the complexity is mind boggling even to the experts," agrees Susanne Haga, senior policy analyst at the Duke Institute of Genome Sciences & Policy.

As it is now, these tests will wrongly reassure and wrongly alarm consumers, as even with the best possible interpretation, there is so much room for error, King adds.

The FDA is planning to ramp up its regulation of genetic testing companies, said Dr. Jeffery Shuren, director of the FDA's Center for Devices and Radiological Health.

"When regulations over medical devices were first developed, FDA exercised discretion and did not regulate tests that were just being done in one lab. Now the situation has changed," Shuren told ABC News.

None of the genetic tests currently offered to consumers have undergone FDA premarket review. The agency recently sent letters to a number of companies informing them that their products appear to meet the definition of a medical device.

Shuren said the FDA is meeting with six genetic testing companies in the upcoming weeks to discuss the regulatory status of their products. The agency may take additional action after the meetings, Shuren said.

A family history is one way to assess your risk of certain health conditions without the use of a genetic test. To find out more, visit My Family Health Portrait: A Tool From the Surgeon General at https://familyhistory.hhs.gov/fhh-web/home.action.