Commercially available personal genetic testing kits were characterized as "misleading and of little or no practical use" by government watchdog agency the General Accounting Office (GAO), in a Congressional hearing last week.

Due to recent concerns regarding the commercialization of the tests to consumers, the House Committee on Energy and Commerce held a hearing on the sale of the kits. The genetic testing kits have been marketed to consumers to determine, among other things, if a person may be genetically predisposed to developing various diseases. In May, Walgreens and Pathway Genomics Corporation announced a partnership to sell Pathway's testing kits in the retail outlets.

Recently, the FDA sent a letter to Pathway indicating that their home-use kits met the definition of a device, which required FDA regulation. Walgreens is now holding off on stocking the kits. The FDA also sent letters to 23andMe, NaviGenics Health Compass, and deCODE Genetics stating that the direct-to-consumer (DTC) genetic testing kits are medical devices as defined by the Federal Food, Drug and Cosmetic Act.

The GAO Study

What may be the most significant testimony in the hearing came from Gregory Kutz, managing director of Forensic Audits and Special Investigations for GAO. According to Kutz's testimony, the GAO was asked to investigate DTC genetic tests currently on the market and the advertising methods used to sell these tests. GAO purchased 10 tests each from four companies, priced $299 to $999 per test.

GAO sent two DNA samples from donors, with both real and fictitious information, to each company. GAO then assessed if the tests provided any medically useful information through consultation with genetics experts, as well as interviewed representatives from each company. To investigate advertising methods, GAO went undercover to 15 DTC companies, including the four tested, and asked about supplement sales, test reliability and privacy policies. GAO then consulted with experts about the veracity of the claims.

According to the testimony, GAO's fictitious consumers received test results that were "misleading and of little or no practical use." The donors received disease risk predictions that were, at times, varied and contradictory across the four companies. The donors also received DNA-based disease predictions conflicting with actual medical conditions. GAO said that follow-up consultations offered by three of the companies did not provide the expert advice promised. However, in post-test interviews with GAO, each company claimed its results were more accurate than other companies' results.

The experts GAO consulted felt the tests were promising for the future, but that "consumers should not rely on any of the results at this time" as the different prediction of risk shows difficulty in interpreting the tests.

GAO also found several "egregious" examples of deceptive marketing in the tests, including claims that a consumer's DNA could be used to create personalized supplements to cure diseases; that two companies stated their supplements could "repair damaged DNA;" and two companies claimed they could predict in which sports children would excel based on DNA analysis.

Government and experts weigh in

Dr. Jeff Shuren, director for the FDA's Center for Devices and Radiological Health testified about the laws covering the tests and the history of regulating such tests. Shuren said that marketing genetic tests directly to consumers "can increase the risk [consequences] of a test because a patient may make a decision that adversely affects their health, such as stopping or changing the dose of a medication or continuing an unhealthy lifestyle, without the intervention of a learned intermediary." He further said the FDA is working toward a reasonable and fair approach to regulation to give patients and doctors confidence in the tests and facilitate progress in personalized medicine.

Dr. James P. Evans, editor-in-chief of Genetics in Medicine and Bryson professor of genetics and medicine at the University of North Carolina at Chapel Hill explained in his testimony that he felt the public may be soon be in an era "in which much, if not most, genetic testing could be done outside the confines of the traditional doctor's office or medical setting." Individualized medicine and access to the information contained in one's own genome is important, Evans stated--but also of critical importance is that any such information received is of high quality and that the "purveyors of such testing comport with reality."

Right now, Evans said the most egregious problem, as well as the most remediable, is the gap between claims made by the providers of such services and the value of the information actually given to consumers. He concluded by saying that the interests of companies and the public are actually fully aligned, since both interests will thrive only when tests and the claims made for those tests are trusted.

"I believe that the public deserves access to the information contained in their own genomes," he said. "But they also deserve an honest accounting of what such information means and the assurance that it is derived in a manner that ensures quality, reliability and confidentiality."

The industry responds

Representatives from the companies manufacturing DTCs emphasized the benefits of genetic testing. David Becker, chief scientific officer of Pathway Genomics, said in his statement, "Empowering consumers with information about their genes holds tremendous promise to promote health and improve lives."

Becker also said that the company believes consumers can understand the benefits of having genetic information and understand that genetics are only part of a healthy life.

Becker explained that Pathway places high importance on ensuring that its testing accurately represents the best scientific literature. He said the reports are constructed using evidence-based standards and markers that have achieved high quality standards of clinical research. Becker also stated that Pathway believes genetic testing companies would benefit from a stable regulatory environment and that in some areas the company could use additional guidance or clarification, including a risk-based classification system for genetic tests; minimum scientific study criteria; standardized definitions for population risk; a list of the strongest effect marker for each condition; standardized labeling and website disclosures; a genetic test registry with required disclosures; mandatory CLIA and CAP certifications; and publicized and standardized compliance procedures.

Dr. Vance Vanier, CEO of Navigenics, Inc., explained that the company believes a health care professional should be an integral part of the personal genetic analysis process and the company has its own team of genetic counselors available to educate and support both health care providers and its customers. Vanier further stated that Navigenics operates in full compliance with all existing state and federal regulations "and is the only consumer genomics company that is approved by state regulators to operate in every state."

Navigenics also welcomes balanced federal oversight, Vanier said, and the company supports the creation of an outside advisory committee to guide the FDA as it determines how to regulate personal genetic testing services.

Finally, Ashley C. Gould, general counsel to 23andMe, Inc. testified that the company wants to better understand the issues involved and that "...23andMe has worked with the Genetics and Public Policy Center at Johns Hopkins University to conduct an independent study of how 23andMe customers understand and use their results. We fully appreciate the concerns that different companies can return different risk predictions, which can happen even when the tests are accurate."

23andMe also supports improving the regulatory framework for personal genetic testing.

The hearing testimony can be accessed here.