WASHINGTON, D.C.—With direct-to-consumer (DTC) genetic testing companies and services coming under fire in recent months due to lack of clearly defined regulation for this new business model, the U.S. Food and Drug Administration (FDA) in June launched a formal investigation of several DTC genetic test providers. While that investigation is not yet complete, an in-depth probe by a different federal agency has revealed misleading test results, deceptive marketing and other questionable practices.
On July 22, the Government Accountability Office (GAO), the investigative arm of Congress, released an explosive report raising serious questions about the validity of DTC genetic tests and the contact their developers have with consumers. The investigation, requested by the U.S. House of Representatives Committee on Energy and Commerce, followed up on a work-up the GAO did on nutrigenetic tests in 2006.
"Since then, new companies came on the market and were touted as being more reputable and accurate than those we previously investigated," says Jennifer Costello, the assistant director in charge of the GAO's investigation. "As a result, the House Committee on Energy and Commerce requested that we test claims being made by these new companies."
The GAO was asked to investigate DTC genetic tests currently on the market and the advertising methods used to sell these tests. The GAO purchased 10 tests each from four companies, for $299 to $999 per test, then selected five donors and sent two DNA samples from each donor to each company—one using factual information about the donor, and one using fictitious information, such as incorrect age and race or ethnicity.
After comparing risk predictions that the donors received for 15 diseases, the GAO made undercover calls to the companies seeking health advice. The GAO did not conduct a scientific study, but instead documented observations that could be made by any consumer. To assess whether the tests provided any medically useful information, GAO consulted with genetics experts.
The GAO also interviewed representatives from each company. To investigate advertising methods, GAO made undercover contact with 15 DTC companies, including the four tested, and asked about supplement sales, test reliability and privacy policies. The GAO again consulted with experts about the veracity of the claims.
According to the GAO, its fictitious consumers received test results that were misleading and of little or no practical use. For example, GAO's donors often received disease risk predictions that varied across the four companies, indicating that identical DNA samples yield contradictory results.
"The most interesting finding was that the results for the 15 diseases we compared were so different," Costello says. "I was Donor 1 and was surprised to learn that I was at above-average, below-average, and average-risk for leukemia, depending on which company I asked."
In addition, the GAO said its donors received DNA-based disease predictions that conflicted with their actual medical conditions—for example, one donor who had a pacemaker implanted 13 years ago to treat an irregular heartbeat was told that he was at decreased risk for developing such a condition. Also, follow-up consultations offered by three of the companies failed to provide the expert advice that the companies promised.
Finally, the GAO said it found "10 egregious examples of deceptive marketing, including claims made by four companies that a consumer's DNA could be used to create personalized supplement to cure diseases. Two companies further stated their supplements could 'repair damaged DNA' or cure disease, even though experts confirmed there is no scientific basis for such claims." One company representative even fraudulently used endorsements from high-profile athletes. Two other companies asserted they could predict a child's athletic aptitude based on DNA analysis, claims that an expert characterized as "complete garbage." Two companies told GAO's fictitious consumer that she could secretly test her fiancée's DNA to "surprise" him with test results—a practice that is restricted in 33 states.
The GAO noted that "perhaps most disturbing" was one company that told a donor an above-average risk prediction for breast cancer meant she was "in the high risk of pretty much getting" the disease, a statement that experts found to be "horrifying" because it implies the test is diagnostic.
The GAO has referred all the companies it investigated to the FDA and Federal Trade Commission for appropriate action. While the GAO did not identify the companies it investigated in its report, after the FDA launched an investigation of five companies in June—23andMe, Navigenics, deCODEme, Knome and Illumina—Costello confirms that these companies were among those probed in the GAO report.
When contacted for comment on the GAO's report and the FDA investigation, most of these companies say they are in full cooperation and look forward to working with government officials to develop a regulatory framework for DTC genetic tests.
"We embrace the ideas that the FDA has offered and look forward to helping to develop a regulatory framework that provides standards and transparency across the industry," says 23andMe, which has a series of blog posts dedicated to the topic.
The FDA sent letters to these companies notifying them that it intends to formally regulate the industry because it equates a personal genome service with a medical device. The FDA then sent out a second batch of similar letters to 14 other companies: Graceful Earth Inc.; SeqWright DNA Technology Services Inc.; Interleukin Genetics Inc.; DNATraits; CyGene Direct; Consumer Genetics LLC; Matrix Genomics Inc.; The Genetic Testing Laboratories Inc.; Sequenom Inc.; EnteroLab Reference Laboratory; BioMarker Pharmaceuticals Inc.; DNA Dimensions; HealthCheckUSA; and easyDNA.
Meanwhile, government interest in DTC genetic testing providers is spreading to other federal bodies. In May, after Pathway Genomics announced that national drug store chain Walgreens was considering selling its tests in retail locations, the House Committee on Energy and Commerce launched a formal investigation of the practice, sending letters to Pathway Genomics as well as two other prominent DTC companies, 23andMe and Navigenics. The committee is requesting information from the companies on several aspects of the tests: How the companies analyze test results to determine consumers' risk for any conditions, diseases, drug responses and adverse reactions; the ability of the companies' genetic testing products to accurately identify any genetic risks; and the companies' policies for the collection, storage and processing of individual genetic samples collected from consumers.
Law firm Robinson, Bradshaw & Hinson has noted in its blog, The Genomics Law Report, that "companies, consumers, healthcare providers, investors and the general public remain largely in the dark about the factors the FDA is using to determine which tests and test providers to target."
"Is it a test's intended use? The fact that it is marketed DTC? The fact that it is sold DTC? The complexity of a particular test? The perceived or actual lack of analytical validity, clinical validity and/or clinical utility? Any or all of those factors, as well as numerous others, might be influencing the FDA's activity in this area. Until the FDA offers up a general policy for public review—and hopefully for comment as well—there is no way for anyone outside of the agency to know where the FDA might be headed next."
DTC genetic testing scrutiny spreads across the pond
By Amy Swinderman
Concern over the lack of regulation of DTC genetic tests is not exclusive to the United States. In recent months, industry trade groups and government commissions abroad have come forward to suggest standards and practices for DTC genetic test providers to follow.
On the heels of the GAO report, the Human Genetics Commission (HGC), the U.K.'s government advisory body on new developments in human genetics, published a "Common Framework of Principles," citing a "need to develop high-level principles for direct-to-consumer genetic tests" due to the significant growth this unregulated market has experienced in recent years.
The HGC created 13 principles that cover issues relating to the marketing and advertising of tests, consumer information, regulatory information and laboratory standards. The principles also discuss counseling and support for consumers, data protection, sample handling and consent.
"Direct-to-consumer tests covering everything from hereditary illnesses to ancestry research are now available over the Internet from companies in the USA and Europe. Some tests can cause considerable surprise or concern to those taking them—or give false reassurance. Some, to say the least, are of doubtful value. To cover this international market, we need a set of overarching principles that can be adopted within existing legal frameworks in different countries," said HGC Commissioner Dr. Frances Flinter in a statement.
The Foundation for Genomics and Population Health (popularly known as the PHG Foundation), an international nonprofit organization concerned with public health genomics, says it is difficult to predict—either within the United Stated or internationally—what will happen as a result of the GAO's and FDA's probes.
"The GAO's report of its undercover investigation of DTC genomics companies is undoubtedly damaging, but is also overly alarmist and gives no indication of how widespread the bad practice might be in this versus any other industry," the group opines. "While there is general agreement that some level of regulation is required in this fledgling industry—to ensure that the genotyping is accurate and that consumers are not misled by extravagant and unfounded health claims—it is unclear what form that regulation should take. In the continuing absence of any evidence of harm caused by these tests, and the likely increasing availability of whole genome sequencing and open source analysis software, regulators should avoid creating restrictive legislation or exhibiting unnecessary genetic exceptionalism."
Instead, the group is advocating a "fairly liberal approach" to regulation of DTC genetic testing services, which primarily addresses information disclosure, analytical and scientific validity, access to advice from qualified professionals and how to handle misleading claims.
Clips show 'disconcerting, horrifying' advice given by DTC genetic testing companies
In "undercover" calls to companies selling DTC genetic tests, the GAO said its fictitious consumers received test results that were "misleading and of little or no practical use." The GAO also said it found several "egregious examples of deceptive marketing."
But the GAO said the "perhaps most disturbing" encounter it had was with a company that told a donor an above-average risk prediction for breast cancer meant she was "in the high risk of pretty much getting" the disease, a statement experts found to be "horrifying" because it implies the test is diagnostic.
The GAO has made audio clips of several of its undercover phone calls available to the public, and here is the transcript of this particular phone call:
Fictitious Consumer: So if I'm high risk, does that mean I'll definitely get breast cancer?
Company Representative: You … you'd be in the high risk of, you know, pretty much getting it, so …
Experts called this statement "disconcerting" and "horrifying," as this company does not test for BRCA variants.
To hear clips of other undercover contacts, visit https://www.gao.gov/products/GAO-10-847T.
