That's the central question in Association for Molecular Pathology v. Myriad Genetics, Inc., a case argued before the U.S. Supreme Court this week. The lawsuit was organized by the American Civil Liberties Union on behalf of Should human genes be patentable? several professional organizations that have long opposed such patents, which the U.S. Patent and Trademark Office has been granting since the 1980s. Patent law is arcane, and arguments about it can sound a lot like haggling over the number of angels that can dance on the head of pin. But in this case, it is tens of billions of dollars in research, products, and profits that are doing the dancing.
At the issue are several patents related to two breast cancer genes, BRCA 1 and BRCA 2. In the 1990s, researchers at Myriad identified and isolated two genes in which certain mutations dramatically increase the risk of breast and ovarian cancer. The company then offered a product, called BRACAnalysis, which compares patients' BRCA genetic sequences to the company's reference sequence to identify the mutations. Armed with the knowledge that they are at greater risk, patients can then engage in protective actions ranging from more frequent mammograms and ultrasound examinations to having their breasts and ovaries surgically removed. The court must decide if Myriad is merely using products of nature (which cannot be patented) or if it has invented a "new and useful process, machine, manufacture, or composition of matter, or any new and useful improvement thereof" (which can).
Why do the plaintiffs want to invalidate human gene patents? As a matter of public policy, it's mainly because they believe such patents impede rather than speed valuable research and development. (The Association for Molecular Pathology, for example, cites estimates that "about 20 percent of the human genome is under patent," and argues that "scientific research has been delayed, limited or even shut down due to concerns about gene patents.") As a matter of law, the groups argue that a gene isolated by Myriad conveys the same genetic information as a gene found in a human body, and that it thus "represents the same laws of nature as genomic DNA." Myriad, the ACLU concludes, "is in effect arguing that it may obtain a patent on a product or law of nature itself if it finds a new use for it."
In its brief, Myriad counters that no one would contest a patent on a new chemical that could be applied to a blood or tissue sample to detect a higher cancer risk. "That is what Myriad's patented molecules are," the company claims, "and they were never available to the world until Myriad's scientists applied their faculties to a previously undistinguished mass of genetic matter in order to identify, define, and create the isolated DNA molecules."
Who's right? It's illuminating to consider how the patent office applies the product of nature doctrine to issuing a patent. In one training example, the office notes that exposure to sunlight is known to affect some people's moods. If someone tried to patent a method for treating seasonal affective disorder that amounts to exposing a patient to sunlight, the application would be rejected, since it "is no more than the law of nature plus telling people to 'apply it.'" Nor would the office issue a narrower patent on exposing the patient to a source of white light, since the sun is also a source of white light. But it would patent a treatment in which a patient is precisely positioned for a specified length of time near a white light source from which ultra-violet rays have been filtered. In fact, just such a treatment was patented in 2002.
So are Myriad's molecules more like advising a patient to sit in the summer sunlight or more like creating a contraption that exposes him to white light in the depths of winter? I am not patent lawyer, but it seems to me that gene patents are more like the latter—that the isolated DNA molecules are the result of human ingenuity and are composed, manufactured, and improved, not merely discovered or found.
The public policy issue raises a different question: Do gene patents promote progress, or do they impede discovery and invention? In its brief, Myriad makes the uncontested point that since its BRCA patents were issued, 18,000 researchers have conducted studies involving those genes, published over 8,000 scientific papers, and conducted over 130 clinical trials. That's a lot of progress, and the evidence that the patents have prevented still more progress from occurring is slim. In a recent, comprehensive analysis, Christopher Holman, a professor at the University of Missouri–Kansas City Law School, deflates the claim that 20 percent of human genes are patented and that this constitutes a roadblock to newer genetic technologies, such as testing based on whole genome sequencing.
The claim that 20 percent of human genes are patented comes from a single article in Science magazine in 2005. The Science authors assumed that the mention of a gene's DNA sequence in patent claim was equivalent to patenting the gene, but in most cases that actually isn't so. What's more, sequencing a whole genome does not require the use of isolated genes. It involves running a person's DNA through a detection device to determine the specific order of DNA base pairs; these data are then compared with publicly available studies describing the various effects of the identified sequences on an individual's health and well-being. In very few instances would preexisting patents prevent this.
Holman concludes that "there is no empirical support for the widespread notion that 20 percent of human genes are patented in manner that would be inevitably infringed" by modern genetic testing technologies. In fact, whole genome sequencing will soon be cheaper than diagnostic tests, such as Myriad's, that depend on patented genes.
In the meantime, declaring human gene patents invalid would likely slow progress in the creation of new medical treatments. As Holman notes, the "biotechnology industry has invested heavily in life-saving products based on the expectation that effective patent protections are available for innovations in this field." During oral arguments, Justice Antonin Scalia asked the highly relevant question of the ACLU attorney: "Why would a company incur massive investment if it—if it cannot patent?" The lawyer lamely responded that scientists might do such work "because they're curious," "because they want a Nobel Prize," and because they would "get enormous recognition." Scalia drily replied, "Well, that's lovely." Scalia asked the right question; for the sake of future patients' well-being, let's hope a majority of the court comes up with the right answer.
Disclosure: I am still a card-carrying member of the ACLU.