Alex Philippidis Senior News Editor Genetic Engineering & Biotechnology News
Changes including more regulation may take some time, as recommendations for the agency are yet to be finalized.
A role for professionals in direct-to-consumer (DTC) genetic tests seemed like a forgone conclusion from an FDA hearing held two weeks ago, considering the agency first weighed in on the issue last spring. In May 2010, Walgreens backtracked from plans it announced two days earlier to sell a saliva collection kit for Pathway Genomics’ genetic test. The decision followed FDA request for Pathway Genomics to provide more information since the test had not been approved by the agency.
Subsequently, FDA created a 21-member panel of professionals to study the issue. After the hearing, held March 8–9 by FDA’s Molecular & Clinical Genetics Panel, it has become clear that the agency will enact regulations under which professionals of some sort will play a role in administering at least the riskier consumer DTC tests. That limited consensus was detailed in FDA’s official summary of the hearing, which was released on March 14.
“The panel generally agreed on the recommendation that several categories or specific genetic tests should be offered solely on prescription,” the FDA noted in its summary. Those categories include “presymptomatic tests with high predictor for a disease, with potentially severe consequences, and pharmacogenetic tests.” The panel also said doctors should be involved in advising consumers about the results of a genetic test.
Negative Impact of Regulation
The prospect of two additional doctor visits will drive up costs of genetic testing to consumers, especially for the millions of Americans who lack health insurance, noted Mary K. Pendergast, a lawyer who heads a consulting firm for biopharmaceutical and medical device companies.
“I think that the basic laws of economics apply to genetic testing—when a product becomes more expensive, its sales may be reduced. So requiring physician intervention will increase the costs and decrease the use of genetic testing,” Pendergast told GEN. “Requiring a doctor to prescribe a genetic test would have an adverse impact on the ability of consumers to access their genetic information.”
She added that the lack of clear guidance from FDA’s Center for Devices and Radiological Health (CDRH) as to what tests will be regulated and how will limit growth and innovation in the DTC genetic testing industry.
“The threat of potential civil and criminal enforcement action in this situation—where there are not yet regulatory standards that fit the new technologies being used—may well have a negative impact on the development of new DTC tests and the overall growth of the DTC testing industry,” said Pendergast.
The center is now seeking regulation of all DTC genetic tests. It notes that it is only the government’s “enforcement discretion” that permits the tests to be sold at all, while CDRH figures out how to regulate them.
Importance of Accuracy
Jeremy Gruber, president of the Council for Responsible Genetics, proposed that DTC require more regulation to protect consumers; the Council for Responsible Genetics is a public policy group focused on the social, ethical, and environmental implications of genetic technologies.
“We believe everyone should have access to their genome and be able to sequence it if they choose,” Gruber said in testimony to the panel. “What we do feel strongly about, however, is that people shouldn’t be misled about the significance of that information and that people should be able to be assured that the claims that are made are accurate and that their privacy will be protected.”
Pendergast agreed about the need for accuracy in testing but said reports of anxiety resulting from false-positive tests “are usually anecdotal and overblown, and most of the recent research about the psychological impact of DTC genetic testing demonstrates that anxiety, if it occurs, is transient.”
She said doctors and patients will both need to get up to speed on genetic testing: “We are entering an era of personalized medicine where the treatments used will vary depending, in part, on the genetic signature of the patient. For the country to move to this more-focused treatment paradigm, it will be important to educate the public, and the medical professionals could play a useful role in education.”
The issue of accuracy of DTC genetic tests was raised last year in a report by the General Accountability Office (GAO). It concluded that four sellers of DTC genetic tests—23andMe, Decode Genetics, Navigenics, and Pathway Genomics—offered contradictory risk predictions for at least nine diseases for each of five fictitious customers.
GAO said it submitted to the companies one true set and one false set of DNA data for each customer and found that follow-up consultations lacked expert advice. Representatives of the genetic testing industry have criticized the report’s methodology as unscientific and its findings as misleading.
FDA’s Molecular & Clinical Genetics Panel shared GAO’s and Gruber’s concern about accuracy by testing companies. Options discussed ranged from patient education and training to clear labeling, online videos, training of professionals, as well as health provider input into the results. The panel’s summary, however, showed no agreement on which one or more options the FDA should pursue.
Need for Validation
The panel agreed that DTC tests should be held to the same standards of evidence and performance as over-the-counter and prescription tests. The tests, it added, should incorporate available science including family histories, environmental factors, and personal history. “In some cases, the environmental and phenotypic characteristics may trump genetic contributions, and that should be clearly stated,” the panel stated.
And the panel did agree that confirmatory tests be required for genetic tests involving rare conditions or markers, citing their significant rate of false-positive results. Such confirmatory tests may differ from the original but should not be performed by the DTC test provider, panelists concurred.
Questioning the Direct Route
The panel is still to decide whether carrier testing will require a professional or be offered DTC. The panel pointed to the complexity of diseases at issue, differences in individual tests, and result interpretation. Some panelists said current knowledge isn’t deep enough to assess whether the risks of offering these tests DTC outweigh the benefits.
The panel agreed that nutrigenic tests were less risky than presymptomatic and pharmacogenetic tests if the test is analytically and clinically valid, and thus they may not see offering many of these tests DTC as problematic. The group added a caveat, though: “Unless there was a potential risk to the patient pertinent to a specific test.”
Professionals to Get Involved
The panel did not come to terms on whether results of certain DTC tests deemed medically actionable must be routed through a doctor or genetic counselor, given the number of genetic tests and disease states. Doctors are likely to be called for at least some results judging from the panel’s deliberations. “The definition of ‘medically actionable’ may vary depending on the disease state. Some of the rarer and more complex test results should be routed through the consumer’s primary care physician.” Pendergast noted that access to primary care varies greatly in the U.S. Requiring access to a primary care physician could have a detrimental impact on some consumers, she said.
Panelists did, however, agree that companies should be required to provide qualified genetic counselors or other appropriately licensed genetic professionals for consumers who purchase DTC genetic tests.
Perhaps the biggest area of uncertainty is how quickly the FDA panel will draw up preliminary recommendations for DTC regulations that the FDA can review before stating final mandates. “To my knowledge, no further meetings are scheduled or planned,” John R. Waterson, M.D., Ph.D., chairman of the agency’s Molecular & Clinical Genetics Panel, told GEN.
There is no timeframe for future meetings or a preliminary set of recommendations suggested in the summary. As a result, ultimate action by the agency is unlikely to be quick.
Alex Philippidis is senior news editor at Mary Ann Liebert, Inc., and Genetic Engineering & Biotechnology News.