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FDA Panel Gets Varied Opinions on DTC Genomics

By a GenomeWeb Staff Reporter

NEW YORK (GenomeWeb News) – Advisers for the US Food and Drug Administration this week heard arguments and recommendations about how it should approach direct-to-consumer genetic testing, with some parties making the case for little or no regulation, others seeking tighter controls, and some proposing a stratified regulatory scheme.

In the two-day meeting, FDA's Molecular and Clinical Genetics Panel heard the potential risks and benefits of direct-to-consumer genetic testing by listening to a series of experts on personalized medicine and by considering comments from the public and a variety of stakeholders.

The panel aimed its spotlight on genetic test companies that sell directly to consumers and which make medical claims about their products and services. The group was charged with weighing how the sale of different genetic tests without prescriptions could be addressed by different regulatory approaches.

In public comments submitted and delivered to the panel, a wide range of interested groups and businesses discussed issues such as people's freedom to access their genomes, how too much regulation could thwart the growth of a new and exciting industry, how genetic information could be used or misused in healthcare and beyond, and whether or not patients are prepared to understand complicated test results.

Lewis Bender, CEO of genetic susceptibility testing company Interleukin Genetics, said in comments to the panel that FDA should stratify genetic tests based on their risk, because a "one-size-fits-all" approach to regulation would not reflect the wide varieties of potential risks posed by different tests.

Bender said his firm would like to see certain criteria for differentiating three tiers of tests: those that should not be sold to the public; those that may be provided directly to consumers but with the counsel of a trained professional; and others that may be sold directly to consumers if their results and implications are explained to consumers accurately.

These "high risk," "moderate risk," and "low risk" assignations would define the requirements for who may order the test and receive its results, how much scientific information will be needed to support claims about the tests, and how information from the tests may be delivered.

In Interleukin Genetics' view, Bender explained, genetic tests sold directly to consumers still would be required to have: adequate scientific evidence supporting them; lab certification and analytic validity; appropriate privacy protections of genetic information; and registration with FDA.

Yale School of Medicine Professor David Hafler suggested in his submitted comments that although personalized genomic technologies are new, they are growing more useful and they should not be restricted to prescription-only status.

Hafler, who is chairman of the university's Department of Neurology, stated that new research suggests that the concern that patients will develop anxieties from having their genetic information appears to be "unfounded."

Having such information also could be beneficial, he added. Recent research "indicates that having one's own genetic information can spark interest in health care and a greater intent to undergo screening tests," he said.

Hafler advised that better and more engaging genetics education will be helpful in avoiding some of the potential pitfalls of consumer genetics, and he added that leaving such testing only to doctors may not assist in that goal.

"In reality, a prescription requirement will silo the information into something only the physician understands or needs to think about, as many feel today about a number of different results they get back," he explained. "I wish to give ownership and with that responsibility of [genetic testing] data back to the patients."

Hafler also said that with more than 3,500 genetic associations already available, "the best use of the FDA's time then is not in regulating every single interpretation of genetic information.

"Give our patients the opportunity to make their own decisions while having the FDA instead focusing on setting up frameworks to ensure analytical validity for the technology and protecting consumers in a general way against misleading information," he advised.

The College of American Pathologists in its comments to the panel showed much more concern about the potential risks of delivering complex genetic information straight to consumers.

"While DTC testing has the potential to empower patients in the management of their health, we are concerned that DTC genetic tests can be performed without the significant safeguards that surround genetic testing in traditional clinical laboratories," CAP stated.

CAP argued that there is s no "practical way to mitigate the risk associated with DTC testing."

The association said it is concerned that "there will be a gross misuse of [genetic] information," explaining that there currently are not enough privacy protections in place.

CAP also noted that genetic tests have consequences for family members of those who take predisposition tests for cancer, for example.

The association also said that misinterpreted or misunderstood test results could lead to "serious" problems, such as leading consumers to avoid complying with physician-recommended therapies, to pursue risky or alternative therapies, to lose or be denied insurance coverage, and to delay seeking appropriate medical care and accurate diagnosis.

"Any governmental policies on DTC genetic testing should address the potentially significant consequences of such a change on the delivery of medical care," CAP recommended.

FDA began looking into the possibility of regulating DTC genetic tests last year, and their efforts appeared to gain in urgency after Pathway Genomics signed a deal with the drugstore chain Walgreens to sell its Insight Saliva Collection Kit in its retail stores.

Soon after that deal was announced, the agency sent letters to a number of genetic testing firms, such as 23andMe and DecodeMe, saying that their tests are medical devices and that the companies need to show why they should not be regulated as such. Pathway and Walgreens swiftly put their genetic testing plans on hold after receiving a separate FDA letter.

The agency's concern grew after the Government Accountability Office led an investigation that appeared to show that certain DTC companies were providing misleading or deceptive claims about their tests and how they may be used. The public meeting this week is part of FDA's review process to discover what kinds of regulation, if any, are needed to protect consumers.

During this week's meeting, the panel heard presentations from several experts in related areas, such as FDA regulation of at-home tests, the evaluation of prescription genetic tests, the impacts of consumer genome-wide risk profiling, the risks and benefits of genetic testing susceptibility in healthy populations, and the value and uses of knowing genetic information in general.

FDA has been considering the possibility of regulating tests in different categories based on risk and benefits, including categories such as genetic carrier screening for hereditary diseases, tests which predict risk of future diseases, and pharmacogenomic tests that predicting patient response to specific drugs.

A risk-based system for regulating DTC genetic tests was proposed late last year by Amy McGuire, associate director for research at Baylor College of Medicine's Center for Medical Ethics and Health Policy, which would focus on higher risk tests and give less scrutiny to lower-risk tests.

The goal of a risk-based approach to regulation would be to identify "tests with the potential for egregious harm – those with uncertain validity or utility that could alter the course of medical treatment," while at the same time refraining from over-burdening a new industry, McGuire previously told GenomeWeb Daily News.

"Delaying consumer access to DTC tests until robust premarket data are available would inhibit product development and could effectively regulate DTC companies out of existence," McGuire and her co-authors argued in a policy paper in Science.

The panel also inquired about possible ways to mitigate incorrect, miscommunicated, or misunderstood test results as well as what type of scientific evidence should be required to support the claims of DTC genetic tests, and whether that evidence should be different to support claims for clinical genetic tests.


GenomeWeb Daily News sister publication Pharmacogenomics Reporter has more on the FDA meeting this week.

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