Last November, just before Thanksgiving, 23andMe, the most popular provider of direct-to-consumer (DTC) genetic testing products, announced a new product and pricing model. The company took its most popular product—a $399 all-in-one genotyping service—and split it into two separate products, an “Ancestry Edition” and a “Health Edition.” It also raised prices, with the complete package jumping from $399 to $499.
This November, just before Thanskgiving, 23andMe announced it was undoing most of last November’s changes, eliminating the separate ancestry and health editions and offering, once again, a single product. Not reversed: the price increase.
A Rationale for Raising Prices. The combined product remains priced at $499, although it now requires a 1 year subscription to 23andMe’s (previously optional) Personal Genome Service (PGS). The PGS, which debuted in September, provides customers with access to regular scientific updates and product features for $5 per month. The changes make the effective list price for 23andMe’s service $559, although the company has run frequent $99 sales, and there are rumors that another one is imminent.
Over the weekend, Steven L. Salzberg and Mihaela Pertea published a short but significant article in the journal Genome Biology. In “Do-it-yourself genetic testing,” Salzberg and Pertea describe the creation of “a computational screen that tests an individual’s genome for mutations in the BRCA genes, despite the fact that both are currently protected by patents.”
The software-based test can be downloaded from the website of the University of Maryland’s Center for Bioinformatics & Computational Biology, where Salzberg is the director and Pertea is on the faculty. The test purports to test genomic sequence data against a set of known mutations in the BRCA genes. In addition to representing a conceptual alternative for those seeking to evaluate their risk of hereditary breast cancer, the so-called “Salzberg Screen” is also a direct challenge to Myriad Genetics, the FDA and the existing legal, regulatory and policy regimes that continue to struggle to keep pace with the science and technology of genomics and personalized medicine.
Below, we examine how the Salzberg Screen fits—or does not—within the current legal and regulatory landscape, as well as what it signals for the future of do-it-yourself genomics, whole-genome sequencing and the law.
The business of genetic testing has progressed rapidly, if unevenly, over the past several years. Like any business based on new and rapidly developing science, the promise of new products and markets is counter-balanced by the obstacles of developing commercial products from raw science, fostering markets for those products, constructing profitable business models and overcoming novel legal and regulatory hurdles.
The Regulatory Environment Turns Negative. Until May 2010, the regulatory challenges in the genetic testing world seemed relatively benign, with most attention focused on patent and related IP issues (e.g. the Myriad gene patent litigation) and a challenging economic climate which made commercial operations and capital raising difficult for most businesses.
[Editor’s Note: Newsweek science editor Mary Carmichael has a DNA Dilemma. As Carmichael debates whether to take a direct-to-consumer (DTC) genetic test, she is soliciting feedback from the DTC community, from the public and from other commentators, including myself. At the end of the week, she will make her decision.
On Tuesday, Carmichael and five commentators examined what can be learned from a DTC genetic test. Yesterday, the topic was whether DTC genetic tests are trustworthy, and whether the results can be cause for concern. Today’s topic is the regulation of DTC genetic tests. In addition to several short commentaries, including a much shorter version of the piece below, Carmichael has also posted a lengthy interview with two top FDA officials on the subject of DTC genetic testing regulation.
The column below is an expanded version of what appears over at Newsweek. To see all of the commentaries in Carmichael’s series, click here.]
The recent media attention focused on direct-to-consumer (DTC) genetic tests has left companies, investors, consumers and even regulators scrambling to figure out what comes next.
As the situation stands today, companies and their investors live in a climate of unprecedented regulatory uncertainty, causing delays in the introduction of new products and rendering an already inhospitable economic climate – for both fundraising and sales – even more challenging. Commentators and regulators caution consumers that some DTC genetic tests may be unreliable or, worse, harmful, but have yet to provide clear tools and guidelines for evaluating competing tests. And regulators, including the FDA, must balance their mandate to protect the health and safety of the public with that same public’s desire for autonomy, while also recognizing that innovation is a prerequisite for a healthcare system that must continue to improve outcomes while reducing costs.
Clearly, something must change. But what will that change be? And how will the field of DTC genetic testing evolve? Will DTC be able to continue its current business while regulators and companies engage in protracted negotiations? Will oversight weed out the “snake oil salesmen” and permit legitimate companies to flourish? Will it drive all genetic testing (temporarily) out of the hands of consumers?
Or will the field change in a dramatic and completely unexpected way?
The second and final day of the FDA’s “Public Meeting on Oversight of Laboratory Developed Tests” (LDTs) brought forth many of the same comments and themes as the first. The primary difference was that, whereas the first day began with some comments from the Agency that provided a few hints about what the FDA has in store for LDTs, the second day was notable for the FDA’s near-total silence (although key officials were present and listening). Indeed, perhaps the loudest applause of the day was reserved for Sharon Terry of Genetic Alliance, who remarked that while she was glad the FDA had invited so many comments, “it would be nice [if the Agency] would say something back.”
Something Old, Something New. In addition to a reiteration of yesterday’s themes – especially the need for additional data demonstrating how LDTs are used and what harms, if any, they have inflicted on consumers and patients – a few new areas of discussion emerged over the course of the day. Those included:
These are hectic days for the field of direct-to-consumer (DTC) genetic testing. Every week, and sometimes every day, seems to bring a new development. Two weeks ago it was pharmacy giants Walgreens and CVS unveiling agreements with Pathway Genomics to offer Pathway’s genetic testing kits in drugstores nationwide, to which the FDA responded first by declaring such a strategy illegal and, shortly thereafter, launching an investigation. Last week, on the same day that the University of California, Berkeley announced it would be offering genetic tests to all incoming freshmen, a House of Representatives committee announced it was launching its own investigation into three prominent DTC genetic testing companies.
These developments reflect an uncertainty about the regulatory status of DTC genetic testing that is dramatic, although it is not new. In the summer of 2008, public health officials in New York and California sent warning letters to a number of DTC companies, including 23andMe and Navigenics (both targets of the current Congressional investigation). These state regulatory activities prompted concern that other states might follow suit, potentially subjecting DTC companies to the nightmare scenario of inconsistent state-by-state regulation. Nearly two years later, those particular concerns appear to be unfounded.
The United States House of Representatives Committee on Energy and Commerce today launched an investigation into direct-to-consumer (DTC) genetic testing, sending letters to three prominent DTC companies: 23andMe, Pathway Genomics and Navigenics. Here is the announcement from the Committee:
Today Chairman Henry A. Waxman, Ranking Member Joe Barton, Subcommittee Chairman Bart Stupak, and Subcommittee Ranking Member Michael C. Burgess sent letters to 23andMe, Inc., Navigenics, and Pathway Genomics Corporation in light of recent reports that at least one of the companies is seeking to sell personal genetic testing kits in retail locations, despite concern from the scientific community regarding the accuracy of test results.
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.
Earlier today I examined the FDA’s emerging regulatory “policy” with respect to direct-to-consumer (DTC) genetic tests. The thrust of the FDA’s comments to date appear to focus on Pathway’s proposed partnership with Walgreens, specifically the fact that Pathway’s tests would be available in a “drugstore,” as the impetus for the FDA’s prompt and public regulatory response.
I questioned whether the apparent distinction driving the FDA’s policy—focusing on the point of sale—is an appropriate one. I also asked if that is, in fact, to be the applicable distinction, where you draw the line?
The fact that Walgreens is referred to as a “drugstore” is not much help, particularly when you consider that the number of products sold by Walgreens and similar chains that are not regulated by the FDA—everything from sandals and sunglasses to batteries and beach balls—dwarfs the number of products that are regulated. So what is it, exactly, about the Pathway/Walgreens partnership that prompted the FDA to act so quickly and publicly? Would the FDA’s response have been different if Pathway had partnered with Wal-Mart? With Amazon.com? And if we get all the way to Amazon.com, how different is this from what Pathway was already doing: selling its test directly to consumers through a publicly accessible website? (emphasis added)
As it turns out, 23andMe’s own DTC genetic tests are available through Amazon.com.
Andrew Pollack of The New York Times reports that, in an interview, OIVD Director Alberto Gutierrez indicated that the saliva collection kit Pathway had planned to sell through Walgreens may be a clearer case of a DTC genetic test subject to FDA oversight. According to Director Gutierrez, “Once you take a collection device and you are marketing through a drugstore, it is very easy for me to say whether something would fall under our policy.”
Well that was quick. On Tuesday, Pathway Genomics and Walgreens announced a partnership to sell a saliva collection kit for Pathway Genomics’ direct-to-consumer (DTC) genetic tests in Walgreens’ thousands of drugstores nationwide. Less than forty-eight hours later, after the FDA repeatedly voiced its concerns about the arrangement, Walgreens has hit the brakes.
According to an MSNBC story, the FDA sent a letter to Pathway “asking the test maker to show it has regulatory approval, or prove why [the test] should be sold without the agency’s blessing.” In response, Walgreens is “elect[ing] not to move forward with offering the Pathway product to our customers until we have further clarity on this matter.”
Back to the Drawing Board. Despite its obvious significance, it is hard to be surprised by this latest development. When the Director of the FDA’s Office of In Vitro Diagnostic Device Evaluation and Safety (OIVD) tells The Washington Post that you would be selling an “illegally marketed device” if you proceed as intended, you should know the letter is already in the mail and retreat to the drawing board as quickly as possible.