(ED NOTE: Without getting into the legal specifics of either side, seems like someone fell asleep at the wheel.  It does not seem to be necessary for the FDA to issue that edict, and raise a firestorm.  It could have been worked out between the opposing sides, without making this public.  As says, it acknowledges its technology is disruptive, but we don’t think they mean legally disruptive.)

 December 2, 2013

(For an excellent rundown of posts on this subject,  go to the EMERGING TECH LIBRARIAN)

Medical researchers, genomics experts, and industry pundits took wildly divergent points of view in a media storm that erupted last week over the FDA’s stern letter ordering 23andMe to stop marketing its Personal Genome Service. The agency cited concerns about “the public health consequences of inaccurate results.” In the wake of the bad publicity, 23andMe co-founder and CEO Anne Wojcicki attempted to reassure her customers with an email that read, in part:

“We have worked extensively with our lab partner to make sure that the results we return are accurate. We stand behind the data that we return to customers—but we recognize that the FDA needs to be convinced of the quality of our data as well. 23andMe has been working with the FDA to navigate the correct regulatory path for direct-to-consumer genetic tests. This is new territory, not just for 23andMe, but for the FDA as well.”

The message’s tone did little to deflect suggestions that 23andMe’s stance toward the FDA is arrogant. In light of the agency’s disclosure that it has not received any communications from 23andMe since May, Wojcicki and her team have come under some harsh criticism. Among the putdowns is a Forbes article, “23and Stupid,” that accuses the company’s leadership of either “deliberately trying to force a battle with the FDA” or of being “guilty of the single dumbest regulatory strategy,” and a Stanford Law School professor whose blog applauds the FDA “for taking seriously its mandate to protect public health.”

Hank Greely, director of Stanford’s Center for Law and the Biosciences, writes, “…sounds as though 23andMe did not just ignore the FDA, but, while walking briskly past it, quickly turned and spat in its face. … If you ignore the FDA for 6 months, it is not surprising that the FDA is going to be unhappy with you, wholly apart from the future of FDA regulation of genetic tests.”

GenomeWeb CEO Bernadette Toner, who has followed the genomics market closely for more than a decade as a journalist, says most industry observers are unsurprised by the FDA warning letter; “it’s in line with the stance the FDA has taken on direct-to-consumer genomics for years.”

What is surprising, however, is that 23andMe seems to have squandered its chance to pioneer a new regulatory environment for the personalized medicine market. Says Toner, “When 23andMe filed for clearance for its test it had the opportunity to work with the FDA to establish a regulatory path for its own products as well as other direct-to-consumer genetic tests.”

23andMe declined comment for this article, but the crux of the conflict seems to be the company’s position that the service it provides is not a diagnostic device, versus the FDA’s insistence that it does indeed come under its regulatory jurisdiction as a device “intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body.”

“The consumer genetics industry has been looking for clarity from the FDA for years now,” says Meredith Salisbury, founder of the Consumer Genetics Conference and industry consultant (and a frequent contributor to Techonomy). “In some respects it is a good thing to see this aggressive stance because it lets other companies know how the FDA is likely to respond to them.”

But Salisbury questions the FDA’s decision to consider all of 23andMe’s findings diagnostic in nature. “For example,” she says, “diagnosing diabetes requires screening of blood glucose levels; screening the genome for somebody’s genetic susceptibility to one day develop diabetes, in my opinion, is a very different thing.” Does telling a chain smoker he is likely to get lung cancer constitute a medical diagnosis? “Of course not,” she says.

Salisbury says she “would like to see more productive discussion among stakeholders before every DNA result that could one day be medically relevant is lumped into the diagnostic category.”

However, Stanford’s Greely points out that, as its letter shows, “the FDA thinks it can and should regulate, to some extent, those tests.” And, he adds, “a reality of regulated industries, especially those regulated by the FDA, is that fighting your regulator may well, in the long run, be a very bad idea.”

Indeed, 23andMe has long hinted that a fight is what it expects. In a July 2012 statement, 23andMe declared:

“As with anything new and potentially disruptive, there have also been concerns. The FDA responded to some of these concerns by indicating that direct-to-consumer genetic testing services require regulatory review to remain on the market. We remain strong in our belief that consumers have a fundamental right to their personal genetic data. We believe personal genetic data will power a revolution in healthcare. But we also recognize that appropriate oversight of this industry can be a stepping stone on the path to realizing that revolution.”

More recently, at an innovation conference in November, Wojcicki expressed her willingness to fight the regulators. Also, in a November 8 interview with Bloomberg, she emphasized that 23andMe does “not diagnose disease.” Instead, she explained, the company’s data tell customers if they have markers that indicate they are at higher risk of certain diseases or are carriers of genes that could put offspring at risk of developing diseases.

But Wojcicki also acknowledged that her company’s long-term goal is “about creating a database of information that is going to become an incredibly valuable tool for all of research—for academics, for pharma companies.” She predicted such a repository would be a “massive asset for society.”

And therein lies an obstacle for 23andMe that’s bigger than a fight over FDA regulatory jurisdiction, says Michael Liebman, a leading biomedical informatics scientist and founder of life sciences and healthcare analytics business IPQ Analytics. Liebman points to 23andMe’s goal to create a research database containing 1 million patients as evidence that the company is actually conducting a “prospective observational clinical trial,” but not following common guidelines for ensuring the clinical value of the effort.

“This type of observational clinical trial involving human subjects should first be presented to an institutional review board,” explains Liebman, who is an expert on large population studies. “If 23andMe’s real intent is to establish a research resource, then not only the study design, but also individual consent has to be approved by an IRB,” he says. “Sample-handling procedures, anonymization/de-identification, methods for analysis and quality control, and patient data—such as family history and diagnoses— are all critical to establishing the quality of any discoveries made with this potentially incredible resource. But those have to be established from the start, not after the fact.”

Had 23andMe followed normal clinical study procedures, it would not just be the FDA asking tough questions of the firm right now. “A lot of questions about privacy and ethics would also have been raised,” Liebman says, “such as about what biases they may be putting into the study because of how they’re collecting samples and data, about the ethics of releasing the data to participants without appropriate guidance, and about quality control and reproducibility of results.”

Ultimately, Liebman says, that failure to follow such standards significantly diminishes the value of the data 23andMe is collecting. To be sure, pharmaceutical companies and academic researchers will consider it a valuable asset for discovery efforts. But, Liebman says, “they won’t be able to rely on the data as it is currently planned.”

In response to those who find preposterous the FDA’s suggestion that individuals could act on incorrect 23andMe test results, Liebman says, “Healthcare involves the interaction between patient and physician, with pressure from patients increasingly influencing clinical decisions.” If a surgeon performs a prophylactic mastectomy at a patient’s request based only on a 23andMe test that indicates a genetic risk for breast cancer, “it’s not unethical, it’s a valid procedure,” Liebman says.

Liebman is also among those—sometimes accused of medical paternalism—who question the ethics of releasing certain genetic information to consumers. “It’s a problem that people might act on the information with limited evidence of quality control and reproducibility,” he says. He’d rather see such data provided via a genetic counselor or physician.

One 23andMe customer who has a different take is genomic futurist and synthetic biology pioneer Andrew Hessel. He says, “Anne Wojcicki and 23andMe have helped introduce genetic screening to the world by making it accessible and affordable. The technology being used to generate the data is state-of-the-art and highly reproducible.”

Hessel considers the results from 23andMe tests, which he says he likes to give as gifts, to be more instructive and educational than diagnostic, and concludes, “There is no way for any organization to prevent access to my genomic information. The technology used by 23andMe is globally distributed and falling in price every day. If 23andMe was not allowed to operate in the U.S., it or another group would appear in a country outside of the FDA’s reach. It would just be another example of the U.S. being unable to adapt to the realities of technological shift.”

“No one’s saying you should not have access,” counters Liebman. “I believe it is critical to understand what it means, and what it doesn’t mean when you get access. There are so many factors involved in giving someone that kind of information, and, realistically, even modern medicine doesn’t know what to do with it.”

But Hessel warns that public access to genomic information is just the beginning of ongoing disruption in healthcare. “Synthetic biology could prove even more disruptive by allowing small groups to actually create novel medicines and treatments,” he says.


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