As deCODE Departs, 23andMe Reloads
A day after Amgen purchased deCODE Genetics for a whopping $415M, in part for access to its unique data (as described in yesterday’s post), 23andMe announced today it had raised $50M in new financing as part of a concerted effort to grow its genetic database to one million customers.
Both events underscore the increasing importance of data to the business of personalized medicine. In addition, today’s news suggests that 23andMe’s efforts to refocus the company to maximize its most valuable asset – “an engaged, enthusiastic and growing community of customers-qua-research-participants” who supply the raw genetic, phenotypic and other material for 23andMe’s expanding database – continue apace.
Either way, in securing another massive round of financing and lowering its price to $99, the last company standing of the direct-to-consumer (DTC) genetic testing pioneers appears unlikely to be joining deCODE, Navigenics and others in abandoning its consumer-facing approach any time soon.
Implications of Amgen/deCODE Deal for Genetic Testing Consumers
The big biotech news of the day is the $415 million sale of deCODE Genetics to Amgen. Coverage of the deal is everywhere, including a typically excellent overview from Matthew Herper of Forbes.
We’ve written extensively about deCODE here at the Genomics Law Report over the years, including the company’s well-publicized bankruptcy and privatization two years ago. That transaction left plenty of deCODE shareholders out in the cold, and those shareholders aren’t likely to be feeling any better about things this winter.
Two years ago, questions were raised regarding how the newly private deCODE would utilize one of its most noteworthy assets: it’s database of genetic and other personal health information about Icelandic citizens. Those questions are likely to resurface now, as Amgen seeks to extract $415 million worth of a company that it bought – at least according to one of deCODE’s owners – in large part for access to deCODE’s data. Expect the usual assurances, but remember that those assurances are only as strong as the paper – and legal framework – upon which they are premised.
DNA DTC: The Return of Direct to Consumer Whole Genome Sequencing
This morning, Gene By Gene, Ltd. – better known as the parent company of the popular genetic genealogy provider Family Tree DNA – formally announced a corporate reorganization that includes the debut of a new division, DNA DTC. (Apparently the news was also announced earlier this month at the Family Tree DNA Conference, although the company waited until today to launch press releases.)
The announcement from Gene By Gene is newsworthy for several reasons, including:
1. The Return of True DTC Whole Genome and Whole Exome Sequencing. According to DNA DTC, the company offers a range of products “utilizing next generation sequencing including the entire exome (at 80x coverage) and the whole genome.” The company’s website, while fairly spartan, appears to bear this out. Whole exomes ($695 at 80x coverage) and genomes ($5,495 at 30x coverage) are both listed as available products.
Now, Gene By Gene is not, as its Wikipedia page claims (as of this writing), “the first commercial company to offer whole genome sequencing tests.” Knome earned that honor more than four years ago, when it started selling whole genome sequences for $350,000; an astounding price, either low (given the cost of the first human genome was $3 billion) or high (given that, well, it was $350,000) depending on your perspective. Gene By Gene probably does represent, however, the only commercial company currently offering a whole genome sequence in a truly direct-to-consumer (DTC) manner.
Updating the DTC Debate: Trial by Press Release, More FDA Letters, the Problem of Pleiotropy and New RUO Guidance
Later today I will join several colleagues here in Chicago, IL at the American Society of Clinical Oncology (ASCO) annual meeting for a panel discussion on Direct-to-Consumer Genetic Testing for Cancer: What Physicians Need to Know (pdf). (Daniel MacArthur and Misha Angrist will not be on the panel, although each joined us in authoring the pre-conference paper.)
This will, I believe, mark direct-to-consumer (DTC) genetic testing’s formal debut at ASCO. It should also serve as another reminder that, despite its relatively small numbers (both in terms of dollars and customers), DTC genetic testing continues to exert an outsized influence when it comes to conversations about the future of genomic medicine. This is particularly true when the discussion turns to appropriate policy and regulatory oversight.
In advance of ASCO, here are several items of interest from the past few weeks in DTC genetic testing.
New Diagnostic Guidelines and DTC Testing for Alzheimer’s Disease
Last month, the National Institute on Aging and the Alzheimer’s Association issued new diagnostic guidelines that divide Alzheimer’s disease into three distinct stages, reflecting recent evidence that the disease begins to affect the brain years before symptoms become evident. The expanded definition of Alzheimer’s includes two new phases of the disease:
(1) presymptomatic and (2) mildly symptomatic but pre-dementia, along with (3) dementia caused by Alzheimer’s. This reflects current thinking that Alzheimer’s begins creating distinct and measurable changes in the brains of affected people years, perhaps decades, before memory and thinking symptoms are noticeable.
At least for the moment, the new guidelines are intended to be used only with patients enrolled in clinical trials, making them more of a work in progress and not a standardized method of determining disease onset in Alzheimer’s patients.
Federal Alzheimer’s Activity. The revisions to the diagnostic guidelines – the first in nearly three decades – indicate how far scientists have come in understanding the disease and are reflected in new legislation introduced in both the Senate (S.738) and the House (H.R.1386) that would expand Medicare coverage of Alzheimer’s to cover “comprehensive Alzheimer’s disease diagnosis and services,” including for individuals who fall under stage (1) or (2) of the new guidelines.
Closer Scrutiny Ahead for DTC Genetic Testing Claims
The FDA’s public meeting on the future of clinical direct-to-consumer (DTC) genetic testing (which we have covered here, here and here) is continuing to draw significant attention from the media and other commentators. Most of the coverage, especially over the past 7-10 days, has added little that is new in the way of either reporting or analysis. One exception, however, comes from Robert VerBruggen of National Review in his column on “The FDA’s Genetic Paternalism.”
What’s new and interesting here is not the substance of VerBruggen’s analysis. Whether or not you agree with Verbruggen’s particular formulation, the “paternalism” critique of proposed FDA regulation of DTC genetic testing is not new. What caught our eye is a comment from deCODE genetics’ CEO Kári Stefánsson. When questioned by VerBruggen about his company’s marketing of its DTC genetic test offering, deCODEme (see screenshot) – which includes statements such as “your genes are a road-map to better health” – here is how Stefánsson responded:
“I think that is both cheesy and somewhat incorrect. I don’t know who came up with that, but whoever it is, is going to be duly punished,” [Stefánsson] said. “I think it’s safe to say we’ll probably be removing that statement and putting up something that at least sounds better.”
After its well-publicized 2009 bankruptcy, deCODE emerged in 2010 as a privately-held company and so it is unlikely the public will know whether Stefánsson follows through with his promise to “duly punish” the source of the “road-map” statement. On the other hand, whether and how deCODE follows through with Stefánsson’s not-quite-a-promise to change deCODEme’s marketing and claims is something that will happen in full view of the public.
2011 Personal Genomics Preview: It’s Déjà Vu…
Last January we kicked off the new year by posing “Five Questions for Personal Genomics in 2010.” Here were the five questions we asked:
1. Will the $1,000 genome live up to the hype?
2. Will personal genomics stay DTC?
3. How will the ongoing gene patent debate affect the progress of personalized medicine?
4. When and where will the next regulatory shoe fall?
5. Who will control the data?
A year later the question that comes first to mind is, has anything really changed?
The short answer is no, not fundamentally, although that is not meant to imply that nothing of note happened in 2010. Far from it, as significant legal, regulatory, policy and technological developments continued to reshape the personal genomics landscape.
With that in mind, we welcome 2011 with a look back at the year that was, and a look ahead at what to expect from 2011 and beyond.
Surreptitious Genetic Testing: WikiLeaks Highlights Gap in Genetic Privacy Law
The top news story the past two weeks: the release of hundreds of thousands of confidential American diplomatic cables by WikiLeaks. While dissecting diplomatic maneuvering is not a traditional area of expertise for the Genomics Law Report, a pair of cables did catch our eye.
The first is primarily a curiosity: the allegation that Chinese authorities are spying on deCode Genetics, Iceland’s most prominent genetic research company and provider of the direct-to-consumer genetic testing service, deCODEme. Nobody seems to know exactly what China is looking to gain by clandestinely exploring Iceland’s genetic genealogy. You are welcome to speculate in the comments.
The second raises broader issues: the revelation that the State Department’s ongoing human intelligence collection directives include requests for “biometric information” on key world leaders, including United Nations arms inspectors, the Director General of the World Health Organization (WHO) and key advisors and aides to United Nations Secretary General Ban Ki-moon. A separate cable detailing intelligence collection priorities in Africa’s Great Lakes region clarifies that “biometric information” includes “health [data]…fingerprints, facial images, DNA, and iris scans.”
Not disclosed in the WikiLeaked cables: why the State Department wants the biometric data or whether any have been successfully obtained.
Surreptitious Testing: An Overview. The cables are, however, a reminder that the law surrounding the surreptitious collection and testing of biometric data, including DNA, remains extremely murky.
The Past, Present and Future of DTC Genetic Testing Regulation
[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?
While You Were Meeting: FDA Mails Letters to 14 More Genetic Test Providers
Earlier this week the FDA held a widely publicized two-day public meeting to discuss its planned regulation of laboratory developed tests (LDTs) (for more see: Day One Recap and Day Two Recap). Other than Monday morning, when the FDA presented background information on LDTs and some of the considerations that have pushed the Agency to pursue a “risk-based application of oversight to LDTs,” the top Agency officials at the meeting were conspicuously quiet. Elsewhere, however, the FDA was doing plenty of talking.
In letters dated July 19th, the first day of the FDA’s public LDT meeting, the Agency continued its crackdown on direct-to-consumer (DTC) genetic test providers, mailing letters to 14 providers of genetic tests. A list of all 14 companies and tests appears below.
