Genomic Sequencing
Clearing a Path for DTC Oversight
In a few hours, the FDA will kick off a two-day public meeting to consider the future of clinical direct-to-consumer (DTC) genetic tests. Few corners of the personal genomics landscape have generated as much attention from regulators, consumers and, especially, the media as DTC genetic testing. Thus, when the meeting was first announced last month, we applauded the FDA’s attempt to examine DTC’s unique set of issues separate from other larger and ongoing regulatory conversations, including whether and how to regulate the far more numerous category of laboratory developed tests (LDTs).
So just what should we expect from the next two-days? 2010 saw a flurry of DTC-related regulatory and legislative activity but, ultimately, little in the way of new oversight or concrete guidance. Both regulators (including the FDA) and industry appear to have responded in 2011 with a more measured approach, and this week’s meeting is an opportunity to thoroughly examine the state of DTC genetic testing and develop a clear, sensible strategy for future oversight of the industry.
Over at Genetic Future, Daniel MacArthur has already weighed in, adopting a tone of cautious optimism in advance of the DTC meeting. Meanwhile, with just a few hours left until the meeting kicks off, here are three key points I’ll be emphasizing in my own talk tomorrow morning (slides):
How Will Myriad Respond to the Next Generation of BRCA Testing?
Robert Cook-Deegan contributed to this commentary. Dr. Cook-Deegan is Director of the Center for Genome Ethics, Law & Policy at Duke University Institute for Genome Sciences and Policy’s and is currently on leave at the Fondation Brocher in Hermance, Switzerland.
The past few months have brought a number of significant research and commercial developments in the BRCA diagnostic testing market, particularly in Europe. These developments have been met by enigmatic comments from the management of Myriad Genetics, the sole provider of commercial BRCA diagnostic testing in the United States and a defendant in ongoing and closely-scrutinized gene patent litigation. What can these recent developments tell us about Myriad’s future plans in both Europe and the U.S.?
The Next Generation of BRCA Testing. Myriad’s current BRCA diagnostic test, BRACAnalysis (pdf), uses a combination of two traditional technologies—Sanger sequencing and PCR—to identify mutations associated with a significant risk of breast cancer and/or ovarian cancer in the BRCA1 and BRAC2 genes. Although Myriad has dabbled with next-generation sequencing technologies, Myriad has yet to announce any concrete plans to apply any of the increasingly numerous and powerful next-generation sequencing technologies to its BRACAnalysis testing.
Others, however, are moving rapidly in exactly this direction.
A Googol of Genomes?
Earlier this week we took a look back at 2010 and offered our projections for the coming year in personal genomics. Topic #1, just as it was last year: the $1,000 genome.
In hindsight, it might have been ill-advised to offer predictions about the near-term future of genome sequencing during the same week in which one of the year’s major industry conferences (the JP Morgan annual Healthcare Conference) is taking place.
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.
Restricting Gene Patents: A Pro-Market Agenda
This commentary is contributed by James P. Evans, clinical professor genetics and medicine at the University of North Carolina and Editor-in-Chief of Genetics in Medicine.
Gene patents have been controversial since they were first granted in the US over two decades ago. The controversy is now reaching a fevered pitch after a surprising US District Court decision which held that human genes are not legitimately patentable and an amicus brief by the Department of Justice largely in support of this contention. How this case will be decided by the Court of Appeals for the Federal Circuit and the Supreme Court (should it accept the inevitable appeal) is anyone’s guess.
But in spite of what might be suggested by the rhetoric often accompanying this debate, the questions at hand are amenable to logical analysis and the application of evidence. Such an analysis argues strongly that if patents on naturally occurring genes are ultimately ruled out of bounds, the net effect on commerce would be positive.
A Thanksgiving Tradition: 23andMe Repackages Product, Raises Prices
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.
Twitter Roundup: Personalized Medicine Conference Edition
With so many developments at the intersection of genomics and the law, there are often a variety of interesting stories that, for one reason or another, don’t find their way into a full-length posting on the Genomics Law Report. In addition to the regular @genomicslawyer Twitter recap, this week I was also tweeting from the 6th annual Partners Healthcare conference on Personalized Medicine. So this version of the Twitter Roundup comes in two sections: tweets from the Partners conference, as well as a brief recap, followed by the regular Twitter roundup.
Part I: Personalized Medicine Conference. Much like last year’s conference, which I also attended and tweeted, the dominant theme voiced by both speakers and attendees was the need to overhaul the personalized medicine reimbursement model. From increasing up-front R&D costs to slowing patient and participant uptake, both of which depress investor interest, almost everybody agreed that reimbursement for personalized medicine products – and advanced diagnostics in particular – needs work.
Next-Gen Sequencing Update: Sequencing for Thousands, Suing for Millions
It is shaping up to be an eventful fourth quarter for genomic sequencing companies. Investors welcomed sequencing newcomer Pacific Biosciences (PacBio) to the public stage with a strong initial public offering (IPO). According to The Wall Street Journal, the company managed “the first U.S. life-sciences [IPO] this year to price well and trade higher” (although the stock has since traded down somewhat). Up next: another next-gen sequencing IPO with Complete Genomics (CGI) expected to follow PacBio into the public market as early as tomorrow.1
The past few weeks have also seen strong third quarter earnings reports from market leaders Illumina (earnings recap) and Life Technologies (earnings recap), with both companies touting double-digit growth in their next-generation sequencing businesses. Illumina and Life Technologies (Life) are also hard at work on their next generation of products which are intended to compete more directly with the offerings from PacBio and CGI (Oxford Nanopore for Illumina, Ion Torrent and Starlight for Life). Meanwhile, China’s own sequencing entrant, BGI, continues to buy up sequencers (first from Illumina, more recently from Life), and what will soon become the world’s largest provider of genomic sequencing has its own ambitious plans.
Swine Soar Higher in Myriad Thanks to US Government’s Amicus Brief
This past March Judge Robert Sweet handed down an unexpected summary judgment ruling in the Myriad gene patent litigation (see: Pigs Fly: Federal Court Invalidates Myriad’s Patent Claims). Myriad quickly appealed Sweet’s district court decision to the Court of Appeals for the Federal Circuit (CAFC).
After several months of courtroom quiet, the briefs began rolling in to the CAFC last week. Most, including Myriad’s own appellant brief (pdf), presented the argument we would expect. Myriad and its supporters frame Judge Sweet’s ruling as an erroneous application of settled patent law and policy that, if upheld, “would have far-reaching negative consequences” (pdf) for the continued development of biotechnology.
And then there is the United States government. In an amicus brief filed on Friday (pdf) the Department of Justice (DOJ), on behalf of the United States, dropped a minor bombshell. Contradicting the longstanding policy of the United States Patent and Trademark Office (PTO), the government’s brief argues that isolated human genes, without further modification, are a product of nature and do not constitute patent-eligible subject matter under § 101 of the Patent Act.
A Do-It-Yourself Genomic Challenge to Myriad, the FDA and the Future of Genetic Tests
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.
