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.
What Five FDA Letters Mean for the Future of DTC Genetic Testing
The FDA has published online letters sent to five personal genomics companies – 23andMe, Navigenics, deCODE Genetics, Knome and Illumina – informing the companies that they are manufacturing and selling medical devices without appropriate FDA premarket review and approval. No surprise that the news that the FDA has sent out letters to some of the most well-known providers of DTC genetic testing products is already making waves. (Daniel MacArthur was the first to point me to the AP story, and Mary Carmichael of Newsweek and Andrew Pollack of The New York Times were among the first to dive into the substance of the letters.)
Below, we will discuss the immediate and long-term implications of the FDA’s most recent regulatory actions for the five companies receiving letters, as well as for the DTC genetic testing industry. First, however, a review of the letters themselves is required. Each of the five two-page letters is signed by Alberto Gutierrez, Director of the FDA’s Office of In Vitro Diagnostic Device Evaluation and Safety (OIVD), and follows a similar format throughout. To gauge the impact of these letters we will take them paragraph by paragraph.
Long’s Op-Ed on Personal Genomics Comes Up Short
In an editorial in the Time’s of London’s Sunday edition – “When DNA means do not ask” – columnist Camilla Long took note of Glenn Close’s decision to sequence her genome. Long’s column begins with gossipy comments appropriate to her usual home turf (which is not science journalism). But she soon gets into territory clearly unfamiliar to her, focusing on what she perceives as the increasing commercialization of personal genomics and the broader failures of genetic information to provide satisfying explanations or cures for complex diseases.
Long’s column is a seriously one-sided and misinformed portrayal of not only personal genomics in the direct-to-consumer (DTC) context but also of the utility of genetic information in any context — clinical, commercial or otherwise. At Genetic Future, Daniel MacArthur’s response (“Willful ignorance is not an effective argument against personal genomics”) is every bit as accurate as it is scathing, and appropriately characterizes Long’s writing as “a true masterpiece of unsupported criticism, and an ode to willful ignorance.”
Life Technologies Fires Latest Sequencing Salvo
Another week, another drop in the cost of whole-genome sequencing. The latest announcement comes from Life Technologies, which yesterday announced the launch of its SOLiD 4 sequencing system. The details of the announcement are well-covered by GenomeWeb and Matthew Herper of Forbes.com.
In brief, the SOLiD 4 generates 100 gigabases of data per run at a cost of $6,000 per genome, a cost that appears to account solely for the consumables and does not include the cost of the machine or of interpreting all of that sequence data. According to GenomeWeb, Life is also promising an upgrade to its system – SOLiD 4hq – in the second half of 2010 which it expects to triple the data output at half of the cost: 300 megabases per run, $3,000 per sequence.
As for the impact of Life’s SOLiD 4 announcement, Matthew Herper hits the nail on the head:
But although the news is good for Life and will keep it in the game as the price of decoding the genetic code continues to drop, the specs of this new machine don’t seem good enough to upset Illumina’s place as the first choice of geneticists. “It’s a solid improvement, but I don’t think this changes the game,” says Isaac Ro, an analyst at Leerink Swan who follows both companies.
Meet the New deCODE, Same as the Old deCODE?
When deCODE genetics declared bankruptcy last fall it made a big splash. Geneticists pondered the future of the Icelandic biotechnology company’s one-of-a-kind genetic database and research platform, while investors and creditors wondered if they were going to be left out in the cold.
The initial bankruptcy buzz gave way over the past several months to a steady but relatively unremarkable stream of filings in the United States Bankruptcy Court for the District of Delaware (the case is No. 09-14063). Last week, however, brought a noteworthy docket entry, with the bankruptcy court approving the sale of most of deCODE genetics Inc.’s assets to Saga Investments LLC (pdf) – an investment company whose owners include Polaris Venture Partners, ARCH Venture Partners and genomic sequencing giant (and DTC genomics dabbler) Illumina.
A Holiday Fire-Sale? The sale, as approved by the bankruptcy court, sends substantially all of deCODE genetics Inc.’s assets – including its valuable genetic research engine that is driven in part by its access to its large Icelandic population database – to Saga Investments. As we described back in November, the bankruptcy sale process required a Stalking Horse bidder (Saga Investments) and a sale and auction process that, at least in theory, allowed other interested parties a chance to step in and make a bid for deCODE’s assets. No other bidders came forward, and the sale to Saga Investments was approved in just under two months.
GLR Update: In The Battle for Sequencing Supremacy, is 128 > $10,000?
The biggest industry developments last week were being announced at J.P. Morgan’s 28th Annual Healthcare Conference in San Francisco. The Genomics Law Report covered Illumina’s announcement of its new next-generation genomic sequencing machine (Another Stop on the Road to the $1,000 Genome), the HiSeq 2000, which promises to sequence an entire genome in one week for $10,000. Illumina’s $10,000 price point represents a new commercial sequencing benchmark, but it is unlikely to deter the company’s competitors. Those include sequencing-as-a-service provider Complete Genomics, which followed up Illumina’s announcement with one of its own, declaring that it plans to sequence up to one million human genomes worldwide over the next five years.
I’ve discussed previously the importance of analyzing just what you get when you purchase a whole-genome sequence. Illumina’s $10,000 genome does not include the cost of the machine or the necessary data analysis, whereas Complete Genomics offers human genome sequences starting at $20,000 while providing its own hardware and data analysis. However, as Matthew Herper of Forbes pointed out last week, the real number to pay attention to in Illumina’s announcement may have been 128—the number of new Illumina machines that BGI committed to buy—and not $10,000. As this recent survey of research labs by In Sequence suggests, current or so-called “second-generation” sequencing platforms, including the one utilized by the HiSeq 2000, continue to make inroads into sequencing centers worldwide, posing an obstacle to Complete Genomics and other newcomers attempting to crack the genomic sequencing space that might not be overcome on price alone.
Another Stop on the Road to the $1,000 Genome
The latest stop on the road to the $1,000 genome? San Francisco, CA, where J.P. Morgan’s 28th Annual Healthcare Conference is in full swing. There is an abundance of real-time Twitter coverage from the conference, but certain announcements warrant a more detailed discussion.
The announcement generating the biggest buzz today came from Illumina, Inc., whose CEO Jay Flatley unveiled a new genome sequencing machine, the HiSeq 2000. According to Matthew Herper of Forbes.com, Illumina’s new machine “will decode a person’s DNA in one week using $10,000 worth of materials – five times cheaper than any other competing gadget on the market.” Herper adds that the machines will begin shipping in February with a cost of $690,000 (compared to $500,000 for Illumina’s current model). Illumina’s own product page for the HiSeq 2000 provides more technical details, including coverage (~30x) and read length (2×100 bp). There have also been unconfirmed rumors that the machine will come equipped with an iPhone user interface, a concept that Flatley first pitched at last summer’s Consumer Genetics Show.
If it performs as advertised, the HiSeq 2000 is likely to be a huge hit with large genome sequencing centers, as evidenced by the announcement that the BGI (formerly the Beijing Genomics Institute) has agreed to purchase a whopping 128 of the new sequencing systems. But what, if anything, does the Illumina announcement mean for individuals consumers interested in receiving a complete genomic sequence?
deCODE Declares. Now What?
If you’re a regular reader of the Genomics Law Report – or the Wall Street Journal for that matter – by now you have probably heard the news: deCODE genetics, Inc. has filed for Chapter 11 Bankruptcy protection.
Given deCODE’s recent financial struggles, this latest development is hardly a surprise. Indeed, two months ago, we anticipated this very event when we asked a hypothetical question: “What Happens if a DTC Genomics Company Goes Belly Up?” That’s precisely the question that deCODE’s customers and creditors are asking today.
In our original article, which was initially published in three parts on September 14, 15 and 16 at Genetic Future, we looked at the interplay between the privacy policies of DTC genomics companies and the relevant bankruptcy law statutes, and offered some educated guesses as to how courts and companies would handle the sale of a bankrupt company’s sale of its customers’ genetic information.
The coming weeks will see that analysis tested in Delaware bankruptcy court. In the meantime, there is a lot to unpack in this morning’s deCODE announcement.
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Completing the Personal Genomics Toolkit
The big news buzzing through the world of genomics this afternoon is the publication of a paper in the journal Science announcing the production of three whole-genome sequences at an average materials cost of $4,400. The work was performed by the third-generation sequencing company Complete Genomics Incorporated, along with researchers from George Church’s lab at Harvard Medical School.
The Race for the $1,000 Genome
Erika Check Hayden of Nature’s blog The Great Beyond has an excellent summary of the Complete announcement in which she also attempts to head off some of the inevitable media hype:
Complete’s $4,400 price tag doesn’t include costs for the company’s infrastructure, such as its Silicon Valley data farm and the army of analysts and technicians required to make sense of the data; the company lists more than 60 employees in this paper’s author list. The company is actually selling genomes at $20,000 apiece in minimum orders of five; costs go down as the order size increases. That puts it slightly behind the schedule it set at its launch; the $5,000 genomes won’t be available until next year.
The announcement from Complete Genomics is hardly unexpected. At its launch last fall the company promised that it would deliver $5,000 genomes (and 1,000 of them, not just 3) by the end of 2009.
From a personal genomics standpoint, there is no question that Complete is a viable contender in the race to deliver affordable, individual whole-genome sequences. Spurred by competition from the likes of IBM, Illumina, Pacific Biosciences, Oxford Nanopore and others, the $1,000 genome continues to draw closer. It is no longer a question of if but when that magic number will be attained.
But while the $1,000 genome competition makes for an exciting horserace, the real focus of today’s announcement should be not on how much a genome sequence costs, but on what you can (or cannot) do with that sequence.
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