In a closely-watched oral argument Monday at a federal courthouse in Washington, the core questions of the case read like scripts from a college philosophy exam: are isolated human genes and the subsequent comparisons of their sequences patentable? Can one company own a monopoly on such genes without violating the rights of others? They are multi-billion dollar questions, the judicially-sanctioned answers to which will have enormous ramifications for the worlds of medicine, science, law, business, politics and religion.
Even the name of the case at the U.S. Circuit Court for the Federal Circuit -- Association of Molecular Pathology, et al. v United States Patent and Trademark Office, et al -- oozes significance. The appeals court judges have been asked to determine whether seven existing patents covering two genes -- BRCA1 and BRCA2 (a/k/a "Breast Cancer Susceptibility Genes 1 and 2") -- are valid under federal law or, instead, fall under statutory exceptions that preclude from patentability what the law identifies as "products of nature."
In other words, no one can patent a human being. Not yet anyway. But there are plenty of other fascinating items or products, which you might otherwise consider "natural," that may be lawfully patented. Like Harvard's famously patented mouse, for example. The Patent and Trademark Office thought that BRCA1 and BRCA2 fit into this category. And the company which sought and now possesses the patents, Myriad Genetics, heavily markets the results today as one of their "molecular diagnostic products." From the company's website, here is the pitch:
BRACAnalysis® assesses a woman's risk of developing breast or ovarian cancer based on detection of mutations in the BRCA1 and BRCA2 genes. This test has become the standard of care in identification of individuals with hereditary breast and ovarian cancer and is reimbursed by insurance.
But a trial judge last March may have changed the plan. In a ruling with ramifications as large as the publicity it generated, U.S. District Judge Robert W. Sweet, a judge sitting with senior status in the Southern District of New York, declared that the two genes were unpatentable and that the USPTO had violated the constitutional rights of others in accepting Myriad's patents on them. Without valid patents, Myriad no longer would have "exclusive" rights to research the genes it had researched and developed. The field of BRCA1/2 research suddenly would be quite crowded, indeed.
Which brings us to Monday morning, when the Federal Circuit once again has to figure out what the nature of nature is as it relates to federal patent law. It's dense, technical stuff that belies the fundamental nature of the inquiry -- and the fact that there are millions of people here, there and everywhere who are following this story because it may have a direct impact upon their lives. That story, the legal aspect of it anyway, began in May 2009 when a group of doctors, patients, gene researchers, the American Civil Liberties Union and others challenged the Myriad patents. In their complaint, the group plainly stated their cause:
Ease of access to genomic discoveries is crucial if basic research is to be expeditiously translated into clinical tests that benefit patients in the emerging era of personalized and predictive medicine. The patents make ease of access more restricted. Because of the patents, defendant Myriad has the right to prevent clinicians from independently looking at or interpreting a person's BRCA1 and BRCA2 genes to determine if the person is at a higher risk of breast and/or ovarian cancer. Because of the patents and because Myriad chooses not to license the patents broadly, woman who fear they may be at an increased risk of breast and/or ovarian cancer are barred from having anyone look at their BRCA1 and BRCA 2 genes or interpret them except for the patent holder.
Myriad and its co-defendants in this civil action quickly moved to dismiss the complaint. It's lawyers were also clear. They wrote:
[The] patent system has worked exactly as it was designed to do. Myriad Genetics and the other Defendants have spent considerable time, effort, and money, in competition with other researchers, to discover the BRCA1 and BRCA2 genes, synthesize DNA corresponding to the genes in test tubes, and identify specific gene mutations that are correlated with breast and ovarian cancer.... The plaintiffs accept these facts, but they object to the Defendants' exclusive rights covering the diagnostic tests. Of course, such limited terms of exclusivity is exactly how the patent system rewards the Defendants' landmark discoveries, and encourages the life-saving research that the Defendants have performed. Without such efforts incentivized by exclusivity, there would be a much smaller number of women, if any, tested for mutations in the BRCA1 and BRCA2 genes. Indeed, but for the prospect of the patent exclusivity, Myriad Genetics would not have been established and funded by investors.
The federal government also responded to the gene patenting lawsuit. The U.S. Patent and Trademark Office, which had issued the patents to Myriad in the first place (and thousands more in this field), sought to defend its decision. The USPTO had both the statutory and constitutional authority to issue the patents, federal lawyers argued, and there were good reasons for the severe statutory restrictions on the ability of third-parties to challenge those patents. Science likes certainty -- but capital and the law like it even more. The USPTO essentially told the judge that Myriad had truly "invented" something beyond a "product of nature" worth protecting through patent.
The first ruling in the case came on November 1, 2009. Judge Sweet (who once upon a time was deputy mayor of New York) rejected the motions to dismiss. He said that the plaintiffs did have a right to challenge the constitutionality of the USPTO's polices and practices as well as to evaluate the legitimacy of Myriad's specific patents. In a footnote, tellingly, he wrote: "Although the USPTO suggests that finding ... jurisdiction over Plaintiffs' constitutional claims would open the gates to a flood of challenges to patents based on alleged constitutional violations, it is difficult to see how a colorable claim ... could arise out of patents for more commonly patented inventions, such as computer chips or carburetors."
Having rejected the defendants' move to toss the case out on procedural grounds, Judge Sweet then moved on to the merits of the plaintiffs' claims. His next ruling, in late March 2010, invalidated the patents and sent the biomedical and venture capital worlds into a tizzy. It is a long opinion, full of facts about molecular biology that even the judge acknowledged were often difficult to follow. But Judge Sweet was clear about the results: The USPTO had been too lax in issuing patents like these and Myriad's patents were legally invalid. The judge wrote:
The claims ... directed to "isolated DNA" containing human BRCA1/2 gene sequences reflect the USPTO's practice of granting patents on DNA sequences so long as those sequences are claimed in the form of "isolated DNA." This practice is premised on the view that DNA should be treated no differently from any other chemical compound, and that its purification from the body, using well-known techniques, renders it patentable by transforming it into something distinctly different in character. Many, however, including scientists in the field of molecular biology and genomics, have considered this practice a "lawyer's trick" that circumvents the prohibitions on the direct patenting of the DNA in our bodies but which, in practice, reaches the same result.... It is concluded that DNA's existence in an "isolated" form alters neither this fundamental quality of DNA as it exists in the body nor the information it encodes.
Gary Cohen (no relation), who is Vice President of Bioethics, Law & Policy at Foundation Medicine, takes no official position on the case. But he recognized in Judge Sweet's ruling a shifting of paradigms in this area of law and science. Cohen told me:
We've been accustomed to thinking of DNA as a molecule, a chemical entity (which, of course, it is). But in this more sophisticated era, we understand that DNA is not "just" a molecule; its an information-carrying molecule. Genes are better thought of as packets of information, not mere molecules, Judge Sweet reasoned. This reasoning is key to his decision -- because the information encoded by a gene is the same, whether its sitting amongst its natural neighbor genes, or in isolated form. That's why researchers want to isolate genes -- because they are useful in all sorts of ways, but only because the isolated form contains the same genetic instructions as the naturally-occuring form. Using this information paradigm, the judge reasoned that "isolation" does not render a naturally-occurring gene something novel, something patentable. This part of the ruling is what makes it so interesting -- its very much consistent with "information age" thinking -- bits, bytes, genetic base pairs, genes: all information carriers.
There have been dozens of amici briefs filed for one side or the other, all arguing over the policy choices inherent at the intersection of patent law, medicine and science. Should we be tinkering with the free market by allowing patents for such things? Is this how the government wants to exercise its prerogative to offer 20-year monopolies? Good questions. For now, all Uncle Sam will say is that it does not want to endorse either side in the argument. However, in a court filing in advance of Monday's argument, Justice Department officials undercut the USPTO's initial determination, perhaps fatally. The feds now argue:
The district court correctly held, however, that genomic DNA that has merely been isolated from the human body, without further alteration or manipulation, is not patent-eligible.... The chemical structure of native human genes is a product of nature, and it is no less a product of nature when that structure is "isolated" from its natural environment than are cotton fibers that have been separated from cotton seeds or coal that has been extracted from the earth.
So many people in so many different industries and for so many different reasons are waiting for a ruling in this case from the Federal Circuit -- and then perhaps from the United States Supreme Court. In a case over molecular biology, from small things, truly, big things one day come. Monday is the next big day in this case. It surely will not be the last.