Last week, Federal District Judge Robert Sweet ruled that patenting a human gene amounts to nothing more than a "lawyer's trick." The decision, in a case about patenting mutations of two genes associated with breast cancer, called into question decades of precedent and thousands of biotechnology patents. Analysts are worrying about the companies that depend on those patents, biotech executives are working to put out the flames, and investors are trying to figure out whether to press the "sell" button just yet. Despite the uncertainties for the market, however, Judge Sweet's decision may set a precedent that ends up helping biotech researchers, businesses, and consumers, too.
The patents at stake in Monday's decision cover mutations of the BRCA1 and BRCA2 genes, which are strongly linked to breast cancer risk. Myriad Genetics, a defendant in the case, holds these patents but does not license them. This means that Myriad can set monopoly-level prices for its diagnostic test. Any woman who wants to find out if she has the mutation has to go to Myriad. As Rebecca Skloot noted for DoubleX, the monopoly means that women can't seek a second opinion—no other lab can run its own test to confirm a particular result, or to double-check the overall accuracy of Myriad's test.
In its defense, Myriad has made many of the standard arguments for granting patents. The company sunk time and money into analyzing the BRCA mutations and developing its diagnostic test. There'd be no way to get a return on its investment if every other company could piggyback on these efforts. The patients who have used the test have gained from this investment too. As Myriad wrote in its brief, "The future of personalized medicine looks bright, promising new ways of identifying and curing genetic disorders and other diseases, resulting in social and health benefits for everyone. Without patent protection, this future will not happen."
But these arguments don't extend seamlessly to the patenting of human genes. Myriad didn't simply patent a new process for diagnosing the presence of the BRCA genes. If it had, then other companies could try to develop their own tests, and the market would reward whichever is cheapest or most effective. Myriad's patents, though, cover the isolated DNA sequences that code for the mutated genes themselves. This blocks labs from creating their own tests unless they get a license from Myriad. Which the company isn't granting.
This kind of patenting can head off new research. In one survey of biomedical researchers, 30 percent of labs (subscription required) reported discontinuing or not developing diagnostic tests because of exclusive patent licenses. While other anecdotal evidence is mixed, in one study as many as three-quarters of researchers in the biotech industry reported that patents caused them difficulty in conducting their research. Take a look at scientific journals, and you can see this isn't just whining: After a patent covering a gene is granted, the citation rate for publications related to the gene declines (subscription required). This suggests that the patent is a real barrier to new research.
These research problems stem from the nature of gene patents. It's rare that there is a single gene scientists can point to as the sole cause of a disease or disorder. And when there are multiple genes and gene patents, each patent-holder has the power to halt associated research. Lori Andrews, a professor at the Chicago-Kent College of Law, explains the difficulty facing researchers in the current thicket of patent rights. Take the hypothetical example of a researcher who wants to study asthma and finds that there are 20 genes associated with asthma that are covered by human gene patents. "If even one of the holders of an asthma gene decided to exert exclusive control of the gene, research on cures and treatments would be stymied," Andrews explained in an e-mail.
Andrews' example gets to the heart of the concern about gene patents. We want to encourage research and testing because they can improve patient care. By some estimates, many drugs benefit as few as a third of their users. Those aren't great odds. Genetic research and testing has the potential to "personalize" medicine by helping consumers find out which drugs will work best for them. The problem for pharma companies is that tailoring drugs to subsets of the population shrinks the market for drugs that have already been developed. As a result, the companies have an incentive to limit research on diagnostic tests that would identify the patients who are less likely to benefit from their products. Patents on human genes are the perfect mechanism for such blocking. According to the Wall Street Journal, GlaxoSmithKline, for instance, took out patents on genetic tests that could evaluate the effectiveness of its drug Flovent, but intentionally left them undeveloped. (The company disputed these allegations and last year released some of its "neglected disease" patents into a patent pool for researchers; you can read their stated policy on human gene patents here [PDF].)
It may sound paradoxical, but obstacles to genetic testing could get worse as our ability to sequence genes gets better. The $1,000 genome (subscription required) is a milestone of affordability that would give many people access to their entire genetic profile and spawn new research and clinical advancements. But as Dan Vorhaus and John Conley explain in the Genomics Law Report, cheap access to the entire genome isn't compatible with the licensing fees charged by gene patent holders. Why pay $3,000 for Myriad's BRCA test when you could get your entire genome sequenced for less? Nobody would. And so in order to avoid losing business, holders of individual gene patents could try to exert control over companies offering to sequence entire genomes. This is the GlaxoSmithKline example writ large.
Judge Sweet's ruling, by contrast, moves the law a step in the opposite direction. A long list of plaintiffs—including breast cancer survivors, the ACLU, and a panoply of scientific and medical organizations—argued that human genes can't be patented because they are "products of nature," a category not covered by patent law. Significantly, Judge Sweet's ruling applied the product of nature doctrine to "isolated" DNA, genetic material that has been purified via human intervention and is therefore different than what naturally occurs in the body. Judge Sweet reasoned that isolated DNA derives its value from the information contained within it, which is naturally encoded in the genome. According to this view, removing the irrelevant parts of a DNA sequence doesn't make you the inventor of a gene any more than removing advertising inserts from a magazine makes you a writer.
Biotech companies have defended themselves against the controversy this case has generated by arguing that Myriad is an outlier. Licenses on human gene patents, they say, are generally reasonable and promote the public interest. If they're right, then maybe we don't need to worry about whether Judge Sweet's decision survives Myriad's inevitable appeal. But as the era of personalized medicine approaches, it will only become more important to fend off aggressive patent holders. We may need the help of another body known for its "lawyer's tricks"—Congress.